Kerndatensatz Senologie
0.9.0 - ci-build

Kerndatensatz Senologie - Local Development build (v0.9.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

Resource Profile: Senologie_Somatische_Mutation - Detailed Descriptions

Draft as of 2026-05-04

Definitions for the senologie-somatische-mutation resource profile.

Guidance on how to interpret the contents of this table can be foundhere

0. Observation
Definition

Measurements and simple assertions made about a patient, device or other subject.

ShortVariantMeasurements and simple assertions
Comments

Used for simple observations such as device measurements, laboratory atomic results, vital signs, height, weight, smoking status, comments, etc. Other resources are used to provide context for observations such as laboratory reports, etc.

Control0..*
Is Modifierfalse
Alternate NamesVital Signs, Measurement, Results, Tests
Invariantsdom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources (contained.contained.empty())
dom-4: If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated (contained.meta.versionId.empty() and contained.meta.lastUpdated.empty())
dom-3: If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource (contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty())
dom-6: A resource should have narrative for robust management (text.`div`.exists())
dom-5: If a resource is contained in another resource, it SHALL NOT have a security label (contained.meta.security.empty())
obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present (value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty())
obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present (dataAbsentReason.empty() or value.empty())
obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present (dataAbsentReason.empty() or value.empty())
obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present (value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty())
2. Observation.meta
Definition

The metadata about the resource. This is content that is maintained by the infrastructure. Changes to the content might not always be associated with version changes to the resource.

ShortMetadata about the resource
Control0..1
This element is affected by the following invariants: ele-1
TypeMeta
Is Modifierfalse
Summarytrue
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
4. Observation.meta.profile
Definition

A list of profiles (references to StructureDefinition resources) that this resource claims to conform to. The URL is a reference to StructureDefinition.url.


A list of profiles (references to StructureDefinition resources) that this resource claims to conform to. The URL is a reference to StructureDefinition.url.

ShortProfiles this resource claims to conform to
Comments

It is up to the server and/or other infrastructure of policy to determine whether/how these claims are verified and/or updated over time. The list of profile URLs is a set.

Control0..*
This element is affected by the following invariants: ele-1
Typecanonical(StructureDefinition, StructureDefinition)
Is Modifierfalse
Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
Must Supporttrue
Summarytrue
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
6. Observation.implicitRules
Definition

A reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content. Often, this is a reference to an implementation guide that defines the special rules along with other profiles etc.

ShortA set of rules under which this content was created
Comments

Asserting this rule set restricts the content to be only understood by a limited set of trading partners. This inherently limits the usefulness of the data in the long term. However, the existing health eco-system is highly fractured, and not yet ready to define, collect, and exchange data in a generally computable sense. Wherever possible, implementers and/or specification writers should avoid using this element. Often, when used, the URL is a reference to an implementation guide that defines these special rules as part of it's narrative along with other profiles, value sets, etc.

Control0..1
This element is affected by the following invariants: ele-1
Typeuri
Is Modifiertrue because This element is labeled as a modifier because the implicit rules may provide additional knowledge about the resource that modifies it's meaning or interpretation
Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
Summarytrue
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
8. Observation.extension:secondary-finding
Slice Namesecondary-finding
Definition

Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement.

For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings.

ShortSecondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings
Comments

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

Control0..1
This element is affected by the following invariants: ele-1
TypeExtension(Observation Secondary Finding) (Extension Type: CodeableConcept)
Alternate Namesextensions, user content
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
10. Observation.extension:body-structure
Slice Namebody-structure
Definition

Record details about the anatomical location of a specimen or body part. This resource may be used when a coded concept does not provide the necessary detail needed for the use case.

ShortTarget anatomic location or structure
Comments

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

Control0..1
This element is affected by the following invariants: ele-1
TypeExtension(BodyStructure Reference) (Extension Type: Reference(BodyStructure))
Alternate Namesextensions, user content
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
12. Observation.modifierExtension
Definition

May be used to represent additional information that is not part of the basic definition of the resource and that modifies the understanding of the element that contains it and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

ShortExtensions that cannot be ignored
Comments

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

Control0..*
This element is affected by the following invariants: ele-1
TypeExtension
Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the resource that contains them
Requirements

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

Alternate Namesextensions, user content
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
SlicingThis element introduces a set of slices on Observation.modifierExtension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
  • value @ url
  • 14. Observation.status
    Definition

    Status der Beobachtung


    The status of the result value.

    ShortUntersuchungsstatusregistered | preliminary | final | amended +
    Comments

    This element is labeled as a modifier because the status contains codes that mark the resource as not currently valid.

    Control1..1
    This element is affected by the following invariants: ele-1
    BindingThe codes SHALL be taken from ObservationStatushttp://hl7.org/fhir/ValueSet/observation-status|4.0.1
    (required to http://hl7.org/fhir/ValueSet/observation-status|4.0.1)

    Codes providing the status of an observation.

    Typecode
    Is Modifiertrue because This element is labeled as a modifier because it is a status element that contains status entered-in-error which means that the resource should not be treated as valid
    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
    Must Supporttrue
    Summarytrue
    Requirements

    Need to track the status of individual results. Some results are finalized before the whole report is finalized.

    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    16. Observation.category
    Definition

    Klassifizierung der Beobachtungsart


    A code that classifies the general type of observation being made.

    ShortKategorieClassification of type of observation
    Comments

    In addition to the required category valueset, this element allows various categorization schemes based on the owner’s definition of the category and effectively multiple categories can be used at once. The level of granularity is defined by the category concepts in the value set.

    Control20..*
    This element is affected by the following invariants: ele-1
    BindingThe codes SHOULD be taken from ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category|4.0.1
    (preferred to http://hl7.org/fhir/ValueSet/observation-category)

    Codes for high level observation categories.

    TypeCodeableConcept
    Is Modifierfalse
    Must Supporttrue
    Requirements

    Used for filtering what observations are retrieved and displayed.

    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    SlicingThis element introduces a set of slices on Observation.category. The slices areUnordered and Open, and can be differentiated using the following discriminators:
    • value @ coding
    • 18. Observation.category:labCategory
      Slice NamelabCategory
      Definition

      A code that classifies the general type of observation being made.

      ShortClassification of type of observation
      Comments

      In addition to the required category valueset, this element allows various categorization schemes based on the owner’s definition of the category and effectively multiple categories can be used at once. The level of granularity is defined by the category concepts in the value set.

      Control10..1*
      This element is affected by the following invariants: ele-1
      BindingThe codes SHOULD be taken from ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category|4.0.1
      (preferred to http://hl7.org/fhir/ValueSet/observation-category)

      Codes for high level observation categories.

      TypeCodeableConcept
      Is Modifierfalse
      Requirements

      Used for filtering what observations are retrieved and displayed.

      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      20. Observation.category:labCategory.coding
      Definition

      A reference to a code defined by a terminology system.

      ShortCode defined by a terminology system
      Comments

      Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.

      Control10..1*
      This element is affected by the following invariants: ele-1
      TypeCoding
      Is Modifierfalse
      Summarytrue
      Requirements

      Allows for alternative encodings within a code system, and translations to other code systems.

      Pattern Value{
        "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
        "code" : "laboratory"
      }
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      22. Observation.category:geCategory
      Slice NamegeCategory
      Definition

      A code that classifies the general type of observation being made.

      ShortClassification of type of observation
      Comments

      In addition to the required category valueset, this element allows various categorization schemes based on the owner’s definition of the category and effectively multiple categories can be used at once. The level of granularity is defined by the category concepts in the value set.

      Control10..1*
      This element is affected by the following invariants: ele-1
      BindingThe codes SHOULD be taken from ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category|4.0.1
      (preferred to http://hl7.org/fhir/ValueSet/observation-category)

      Codes for high level observation categories.

      TypeCodeableConcept
      Is Modifierfalse
      Requirements

      Used for filtering what observations are retrieved and displayed.

      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      24. Observation.category:geCategory.coding
      Definition

      A reference to a code defined by a terminology system.

      ShortCode defined by a terminology system
      Comments

      Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.

      Control10..1*
      This element is affected by the following invariants: ele-1
      TypeCoding
      Is Modifierfalse
      Summarytrue
      Requirements

      Allows for alternative encodings within a code system, and translations to other code systems.

      Pattern Value{
        "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
        "code" : "GE"
      }
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      26. Observation.code
      Definition

      Code zur Identifizierung der Varianten-Beobachtung


      Describes what was observed. Sometimes this is called the observation "name".

      ShortGenetische Variante (LOINC 69548-6)Type of observation (code / type)
      Comments

      All code-value and, if present, component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

      Control1..1
      This element is affected by the following invariants: ele-1
      BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
      (example to http://hl7.org/fhir/ValueSet/observation-codes)

      Codes identifying names of simple observations.

      TypeCodeableConcept
      Is Modifierfalse
      Must Supporttrue
      Summarytrue
      Requirements

      Knowing what kind of observation is being made is essential to understanding the observation.

      Alternate NamesName
      Pattern Value{
        "coding" : [{
          "system" : "http://loinc.org",
          "code" : "69548-6"
        }]
      }
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      28. Observation.subject
      Definition

      Der Patient oder die Gruppe auf die sich die Variante bezieht


      The patient, or group of patients, location, or device this observation is about and into whose record the observation is placed. If the actual focus of the observation is different from the subject (or a sample of, part, or region of the subject), the focus element or the code itself specifies the actual focus of the observation.

      ShortPatient/inWho and/or what the observation is about
      Comments

      One would expect this element to be a cardinality of 1..1. The only circumstance in which the subject can be missing is when the observation is made by a device that does not know the patient. In this case, the observation SHALL be matched to a patient through some context/channel matching technique, and at this point, the observation should be updated.

      Control10..1
      This element is affected by the following invariants: ele-1
      TypeReference(Patient, Patient, Group, Device, Location)
      Is Modifierfalse
      Must Supporttrue
      Summarytrue
      Requirements

      Observations have no value if you don't know who or what they're about.

      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      ref-1: SHALL have a contained resource if a local reference is provided (reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids')))
      30. Observation.focus
      Definition

      The actual focus of an observation when it is not the patient of record representing something or someone associated with the patient such as a spouse, parent, fetus, or donor. For example, fetus observations in a mother's record. The focus of an observation could also be an existing condition, an intervention, the subject's diet, another observation of the subject, or a body structure such as tumor or implanted device. An example use case would be using the Observation resource to capture whether the mother is trained to change her child's tracheostomy tube. In this example, the child is the patient of record and the mother is the focus.

      ShortWhat the observation is about, when it is not about the subject of record
      Comments

      Typically, an observation is made about the subject - a patient, or group of patients, location, or device - and the distinction between the subject and what is directly measured for an observation is specified in the observation code itself ( e.g., "Blood Glucose") and does not need to be represented separately using this element. Use specimen if a reference to a specimen is required. If a code is required instead of a resource use either bodysite for bodysites or the standard extension focusCode.

      Control0..*
      This element is affected by the following invariants: ele-1
      TypeReference(MII PR Onkologie Diagnose Primärtumor, Resource)
      Is Modifierfalse
      Must Supporttrue
      Summarytrue
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      ref-1: SHALL have a contained resource if a local reference is provided (reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids')))
      32. Observation.encounter
      Definition

      The healthcare event (e.g. a patient and healthcare provider interaction) during which this observation is made.

      ShortHealthcare event during which this observation is made
      Comments

      This will typically be the encounter the event occurred within, but some events may be initiated prior to or after the official completion of an encounter but still be tied to the context of the encounter (e.g. pre-admission laboratory tests).

      Control0..1
      This element is affected by the following invariants: ele-1
      TypeReference(Encounter, Encounter)
      Is Modifierfalse
      Must Supporttrue
      Summarytrue
      Requirements

      For some observations it may be important to know the link between an observation and a particular encounter.

      Alternate NamesContext
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      ref-1: SHALL have a contained resource if a local reference is provided (reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids')))
      34. Observation.effective[x]
      Definition

      Klinisch relevanter Zeitpunkt oder Zeitraum der Beobachtung


      The time or time-period the observed value is asserted as being true. For biological subjects - e.g. human patients - this is usually called the "physiologically relevant time". This is usually either the time of the procedure or of specimen collection, but very often the source of the date/time is not known, only the date/time itself.

      ShortZeitpunkt der BeobachtungClinically relevant time/time-period for observation
      Comments

      At least a date should be present unless this observation is a historical report. For recording imprecise or "fuzzy" times (For example, a blood glucose measurement taken "after breakfast") use the Timing datatype which allow the measurement to be tied to regular life events.

      Control0..1
      This element is affected by the following invariants: ele-1
      TypeChoice of: dateTime, Period, Timing, instant
      [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
      Is Modifierfalse
      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
      Must Supporttrue
      Must Support TypesNo must-support rules about the choice of types/profiles
      Summarytrue
      Requirements

      Knowing when an observation was deemed true is important to its relevance as well as determining trends.

      Alternate NamesOccurrence
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      SlicingThis element introduces a set of slices on Observation.effective[x]. The slices areUnordered and Open, and can be differentiated using the following discriminators:
      • type @ $this
      • 36. Observation.effective[x]:effectiveDateTime
        Slice NameeffectiveDateTime
        Definition

        Klinisch relevanter Zeitpunkt oder Zeitraum der Beobachtung


        The time or time-period the observed value is asserted as being true. For biological subjects - e.g. human patients - this is usually called the "physiologically relevant time". This is usually either the time of the procedure or of specimen collection, but very often the source of the date/time is not known, only the date/time itself.

        ShortZeitpunkt der BestimmungClinically relevant time/time-period for observation
        Comments

        At least a date should be present unless this observation is a historical report. For recording imprecise or "fuzzy" times (For example, a blood glucose measurement taken "after breakfast") use the Timing datatype which allow the measurement to be tied to regular life events.

        Control0..1
        This element is affected by the following invariants: ele-1
        TypedateTime, Period, Timing, instant
        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
        Is Modifierfalse
        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
        Must Supporttrue
        Summarytrue
        Requirements

        Knowing when an observation was deemed true is important to its relevance as well as determining trends.

        Alternate NamesOccurrence
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        38. Observation.issued
        Definition

        Datum und Uhrzeit der Freigabe der Beobachtung


        The date and time this version of the observation was made available to providers, typically after the results have been reviewed and verified.

        ShortFreigabedatumDate/Time this version was made available
        Comments

        For Observations that don’t require review and verification, it may be the same as the lastUpdated time of the resource itself. For Observations that do require review and verification for certain updates, it might not be the same as the lastUpdated time of the resource itself due to a non-clinically significant update that doesn’t require the new version to be reviewed and verified again.

        Control0..1
        This element is affected by the following invariants: ele-1
        Typeinstant
        Is Modifierfalse
        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
        Must Supporttrue
        Summarytrue
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        40. Observation.value[x]
        Definition

        Das Ergebnis der Variantenanalyse - vorhanden oder abwesend


        The information determined as a result of making the observation, if the information has a simple value.

        ShortErgebniswertActual result
        Comments

        An observation may have; 1) a single value here, 2) both a value and a set of related or component values, or 3) only a set of related or component values. If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

        Control0..1
        This element is affected by the following invariants: ele-1, obs-7
        TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
        Is Modifierfalse
        Must Supporttrue
        Summarytrue
        Requirements

        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        SlicingThis element introduces a set of slices on Observation.value[x]. The slices areUnordered and Closed, and can be differentiated using the following discriminators:
        • type @ $this
        • 42. Observation.value[x]:valueCodeableConcept
          Slice NamevalueCodeableConcept
          Definition

          The presence or absence of the variant described in the components. If not searching for specific variations and merely reporting what's found, the profile's value should be set to 'Present'.


          The information determined as a result of making the observation, if the information has a simple value.

          ShortIndeterminate | No call | Present | Absent.Actual result
          Comments

          See here for usage guidance.


          An observation may have; 1) a single value here, 2) both a value and a set of related or component values, or 3) only a set of related or component values. If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

          Control0..1
          This element is affected by the following invariants: ele-1, obs-7
          BindingThe codes SHALL be taken from For codes, see LOINC Answer List LL1971-2
          (required to http://loinc.org/vs/LL1971-2)
          TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
          Is Modifierfalse
          Must Supporttrue
          Summarytrue
          Requirements

          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          44. Observation.value[x]:valueCodeableConcept.coding
          Definition

          A reference to a code defined by a terminology system.

          ShortCode defined by a terminology system
          Comments

          Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.

          Control0..*
          This element is affected by the following invariants: ele-1
          TypeCoding
          Is Modifierfalse
          Summarytrue
          Requirements

          Allows for alternative encodings within a code system, and translations to other code systems.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          46. Observation.value[x]:valueCodeableConcept.coding.system
          Definition

          The identification of the code system that defines the meaning of the symbol in the code.

          ShortIdentity of the terminology system
          Comments

          The URI may be an OID (urn:oid:...) or a UUID (urn:uuid:...). OIDs and UUIDs SHALL be references to the HL7 OID registry. Otherwise, the URI should come from HL7's list of FHIR defined special URIs or it should reference to some definition that establishes the system clearly and unambiguously.

          Control0..1
          This element is affected by the following invariants: ele-1
          Typeuri
          Is Modifierfalse
          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
          Must Supporttrue
          Summarytrue
          Requirements

          Need to be unambiguous about the source of the definition of the symbol.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          48. Observation.value[x]:valueCodeableConcept.coding.code
          Definition

          A symbol in syntax defined by the system. The symbol may be a predefined code or an expression in a syntax defined by the coding system (e.g. post-coordination).

          ShortSymbol in syntax defined by the system
          Comments

          Note that FHIR strings SHALL NOT exceed 1MB in size

          Control0..1
          This element is affected by the following invariants: ele-1
          Typecode
          Is Modifierfalse
          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
          Must Supporttrue
          Summarytrue
          Requirements

          Need to refer to a particular code in the system.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          50. Observation.dataAbsentReason
          Definition

          Provides a reason why the expected value in the element Observation.value[x] is missing.

          ShortWhy the result is missing
          Comments

          Null or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "specimen unsatisfactory".

          The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Note that an observation may only be reported if there are values to report. For example differential cell counts values may be reported only when > 0. Because of these options, use-case agreements are required to interpret general observations for null or exceptional values.

          Control0..1
          This element is affected by the following invariants: ele-1, obs-6
          BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
          (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

          Codes specifying why the result (Observation.value[x]) is missing.

          TypeCodeableConcept
          Is Modifierfalse
          Requirements

          For many results it is necessary to handle exceptional values in measurements.

          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          52. Observation.interpretation
          Definition

          A categorical assessment of an observation value. For example, high, low, normal.

          ShortAusprägung (M=Mutation, W=Wildtyp, N=nicht bestimmbar, U=unbekannt)High, low, normal, etc.
          Comments

          Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

          Control0..*
          This element is affected by the following invariants: ele-1
          BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation|4.0.1
          (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

          Codes identifying interpretations of observations.

          TypeCodeableConcept
          Is Modifierfalse
          Must Supporttrue
          Requirements

          For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

          Alternate NamesAbnormal Flag
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          SlicingThis element introduces a set of slices on Observation.interpretation. The slices areUnordered and Open, and can be differentiated using the following discriminators:
          • type @ $this
          • 54. Observation.interpretation:oBDS
            Slice NameoBDS
            Definition

            A categorical assessment of an observation value. For example, high, low, normal.

            ShortHigh, low, normal, etc.
            Comments

            Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

            Control0..1*
            This element is affected by the following invariants: ele-1
            BindingThe codes SHALL be taken from Unless not suitable, these codes SHALL be taken from MII_VS Onkologie Genetische Variante Ausprägunghttp://hl7.org/fhir/ValueSet/observation-interpretation|4.0.1
            (required to https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-genetische-variante-auspraegung)

            Codes identifying interpretations of observations.

            TypeCodeableConcept
            Is Modifierfalse
            Requirements

            For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

            Alternate NamesAbnormal Flag
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            56. Observation.interpretation:oBDS.coding
            Definition

            Genetische Variante Ausprägung gemäß 23.1 oBDS 2021


            A reference to a code defined by a terminology system.

            ShortGenetische Variante AusprägungCode defined by a terminology system
            Comments

            Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.

            Control0..*
            This element is affected by the following invariants: ele-1
            TypeCoding
            Is Modifierfalse
            Summarytrue
            Requirements

            Allows for alternative encodings within a code system, and translations to other code systems.

            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            58. Observation.interpretation:oBDS.coding.system
            Definition

            The identification of the code system that defines the meaning of the symbol in the code.

            ShortIdentity of the terminology system
            Comments

            The URI may be an OID (urn:oid:...) or a UUID (urn:uuid:...). OIDs and UUIDs SHALL be references to the HL7 OID registry. Otherwise, the URI should come from HL7's list of FHIR defined special URIs or it should reference to some definition that establishes the system clearly and unambiguously.

            Control0..1
            This element is affected by the following invariants: ele-1
            Typeuri
            Is Modifierfalse
            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
            Must Supporttrue
            Summarytrue
            Requirements

            Need to be unambiguous about the source of the definition of the symbol.

            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            60. Observation.interpretation:oBDS.coding.code
            Definition

            A symbol in syntax defined by the system. The symbol may be a predefined code or an expression in a syntax defined by the coding system (e.g. post-coordination).

            ShortSymbol in syntax defined by the system
            Comments

            Note that FHIR strings SHALL NOT exceed 1MB in size

            Control0..1
            This element is affected by the following invariants: ele-1
            Typecode
            Is Modifierfalse
            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
            Must Supporttrue
            Summarytrue
            Requirements

            Need to refer to a particular code in the system.

            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            62. Observation.note
            Definition

            A text note which also contains information about who made the statement and when.


            Comments about the observation or the results.

            ShortComments about the Observation that also contain a coded typeComments about the observation
            Comments

            May include general statements about the observation, or statements about significant, unexpected or unreliable results values, or information about its source when relevant to its interpretation. The CodedAnnotation data type, while not allowing for or intending to make the content computable, does allow the author to indicate the type of note. This does not replace the use of interpretation, value, or component values. One important note is that Annotation is a FHIR data type, this is NOT about annotations in the genomic context.


            May include general statements about the observation, or statements about significant, unexpected or unreliable results values, or information about its source when relevant to its interpretation.

            Control0..*
            This element is affected by the following invariants: ele-1
            TypeAnnotation(Coded Annotation)
            Is Modifierfalse
            Must Supporttrue
            Requirements

            Need to be able to provide free text additional information. Notes SHALL NOT contain information which can be captured in a structured way.


            Need to be able to provide free text additional information.

            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            64. Observation.note.extension:code
            Slice Namecode
            Definition

            Codifies the content of an Annotation

            ShortAnnotation Code
            Comments

            There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

            Control0..1
            This element is affected by the following invariants: ele-1
            TypeExtension(Annotation Code) (Extension Type: CodeableConcept)
            Alternate Namesextensions, user content
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
            ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
            66. Observation.note.text
            Definition

            Genetische Variante Name gemäß 23.1 oBDS 2021


            The text of the annotation in markdown format.

            ShortGenetische Variante NameThe annotation - text content (as markdown)
            Comments

            Systems are not required to have markdown support, so the text should be readable without markdown processing. The markdown syntax is GFM - see https://github.github.com/gfm/

            Control1..1
            This element is affected by the following invariants: ele-1
            Typemarkdown
            Is Modifierfalse
            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
            Must Supporttrue
            Summarytrue
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            68. Observation.method
            Definition

            Die verwendete Untersuchungsmethode


            Indicates the mechanism used to perform the observation.

            ShortMethodeHow it was done
            Comments

            Only used if not implicit in code for Observation.code.

            Control0..1
            This element is affected by the following invariants: ele-1
            BindingUnless not suitable, these codes SHALL be taken from For example codes, see LOINC Answer List LL4048-6http://hl7.org/fhir/ValueSet/observation-methods|4.0.1
            (extensible to http://loinc.org/vs/LL4048-6)

            Methods for simple observations.

            TypeCodeableConcept
            Is Modifierfalse
            Must Supporttrue
            Requirements

            In some cases, method can impact results and is thus used for determining whether results can be compared or determining significance of results.

            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            70. Observation.specimen
            Definition

            Referenz auf die Tumorprobe (Specimen), aus der die genetische Variante bestimmt wurde. Optional, da die Methodik auch über GenomicStudy abgebildet werden kann.


            The specimen that was used when this observation was made.

            ShortTumorprobeSpecimen used for this observation
            Comments

            Should only be used if not implicit in code found in Observation.code. Observations are not made on specimens themselves; they are made on a subject, but in many cases by the means of a specimen. Note that although specimens are often involved, they are not always tracked and reported explicitly. Also note that observation resources may be used in contexts that track the specimen explicitly (e.g. Diagnostic Report).

            Control0..1
            This element is affected by the following invariants: ele-1
            TypeReference(MII PR Onkologie Specimen, Specimen)
            Is Modifierfalse
            Must Supporttrue
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            ref-1: SHALL have a contained resource if a local reference is provided (reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids')))
            72. Observation.device
            Definition

            Das verwendete Analysegerät


            The device used to generate the observation data.

            ShortGerät(Measurement) Device
            Comments

            Note that this is not meant to represent a device involved in the transmission of the result, e.g., a gateway. Such devices may be documented using the Provenance resource where relevant.

            Control0..1
            This element is affected by the following invariants: ele-1
            TypeReference(Device, DeviceMetric, Device, DeviceMetric)
            Is Modifierfalse
            Must Supporttrue
            Must Support TypesNo must-support rules about the choice of types/profiles
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            ref-1: SHALL have a contained resource if a local reference is provided (reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids')))
            74. Observation.derivedFrom
            Definition

            The target resource that represents a measurement from which this observation value is derived. For example, a calculated anion gap or a fetal measurement based on an ultrasound image.

            ShortRelated measurements the observation is made from
            Comments

            All the reference choices that are listed in this element can represent clinical observations and other measurements that may be the source for a derived value. The most common reference will be another Observation. For a discussion on the ways Observations can assembled in groups together, see Notes below.

            Control0..*
            This element is affected by the following invariants: ele-1
            TypeReference(DocumentReference, ImagingStudy, Media, QuestionnaireResponse, Observation, MolecularSequence, DocumentReference, ImagingStudy, Media, QuestionnaireResponse, Observation, MolecularSequence)
            Is Modifierfalse
            Summarytrue
            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
            ref-1: SHALL have a contained resource if a local reference is provided (reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids')))
            SlicingThis element introduces a set of slices on Observation.derivedFrom. The slices areUnordered and Open, and can be differentiated using the following discriminators:
            • profile @ resolve()
            • 76. Observation.component
              Definition

              Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

              ShortComponent results
              Comments

              For a discussion on the ways Observations can be assembled in groups together see Notes below.

              Control0..*
              This element is affected by the following invariants: ele-1
              TypeBackboneElement
              Is Modifierfalse
              Summarytrue
              Requirements

              Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
              SlicingThis element introduces a set of slices on Observation.component. The slices areUnordered and Open, and can be differentiated using the following discriminators:
              • value @ code
              • 78. Observation.component.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                80. Observation.component.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                ShortType of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                82. Observation.component.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                84. Observation.component:conclusion-string
                Slice Nameconclusion-string
                Definition

                Textuelle Zusammenfassung oder Schlussfolgerung zur Variante


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortSchlussfolgerung - TextComponent results
                Comments

                An example would be the interpretative information, typically canned, about a variant identified in the patient.


                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Need to be able to provide a conclusion that is not lost among the basic result data.


                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                86. Observation.component:conclusion-string.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                88. Observation.component:conclusion-string.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Shortconclusion-stringType of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                    "code" : "conclusion-string"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                90. Observation.component:conclusion-string.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                92. Observation.component:gene-studied
                Slice Namegene-studied
                Definition

                Das untersuchte Gen identifiziert durch HGNC-ID


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortUntersuchtes Gen (BRCA1/BRCA2/PALB2)Component results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                94. Observation.component:gene-studied.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                96. Observation.component:gene-studied.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short48018-6Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "48018-6"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                98. Observation.component:gene-studied.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                ShortThe HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.Actual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                BindingUnless not suitable, these codes SHALL be taken from For codes, see HUGO Gene Nomenclature Committee Gene Names (HGNC)
                (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs)
                TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                100. Observation.component:gene-studied.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                102. Observation.component:cytogenetic-location
                Slice Namecytogenetic-location
                Definition

                Chromosomale Position der Variante in Bandennomenklatur


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortZytogenetische LokalisationComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                104. Observation.component:cytogenetic-location.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                106. Observation.component:cytogenetic-location.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short48001-2Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "48001-2"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                108. Observation.component:cytogenetic-location.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                ShortExample: 1q21.1Actual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                110. Observation.component:cytogenetic-location.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                112. Observation.component:reference-sequence-assembly
                Slice Namereference-sequence-assembly
                Definition

                Die verwendete Referenzgenom-Version wie z.B. GRCh37 oder GRCh38


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortReferenzgenom-AssemblyComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                114. Observation.component:reference-sequence-assembly.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                116. Observation.component:reference-sequence-assembly.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short62374-4Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "62374-4"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                118. Observation.component:reference-sequence-assembly.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                ShortGRCh37 | GRCh38 | ...Actual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                BindingUnless not suitable, these codes SHALL be taken from For codes, see LOINC Answer List LL1040-6
                (extensible to http://loinc.org/vs/LL1040-6)
                TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                120. Observation.component:reference-sequence-assembly.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                122. Observation.component:chromosome-identifier
                Slice Namechromosome-identifier
                Definition

                Das betroffene Chromosom


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortChromosomComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                124. Observation.component:chromosome-identifier.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                126. Observation.component:chromosome-identifier.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short48000-4Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "48000-4"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                128. Observation.component:chromosome-identifier.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                ShortChromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome YActual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                BindingThe codes SHALL be taken from For codes, see LOINC Answer List LL2938-0
                (required to http://loinc.org/vs/LL2938-0)
                TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                130. Observation.component:chromosome-identifier.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                132. Observation.component:representative-coding-hgvs
                Slice Namerepresentative-coding-hgvs
                Definition

                Die cDNA-Änderung in HGVS-Nomenklatur auf Transkriptebene


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortDNA-Änderung c.HGVSComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                134. Observation.component:representative-coding-hgvs.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                136. Observation.component:representative-coding-hgvs.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short48004-6Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "48004-6"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                138. Observation.component:representative-coding-hgvs.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                ShortA valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T.Actual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                BindingThe codes SHALL be taken from For codes, see Human Genome Variation Society (HGVS) Nomenclature
                (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs)
                TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                140. Observation.component:representative-coding-hgvs.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                142. Observation.component:genomic-hgvs
                Slice Namegenomic-hgvs
                Definition

                Die genomische DNA-Änderung in HGVS-Nomenklatur


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortGenomische DNA-Änderung g.HGVSComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                144. Observation.component:genomic-hgvs.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                146. Observation.component:genomic-hgvs.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short81290-9Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "81290-9"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                148. Observation.component:genomic-hgvs.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                ShortA valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dupActual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                BindingThe codes SHALL be taken from For codes, see Human Genome Variation Society (HGVS) Nomenclature
                (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs)
                TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                150. Observation.component:genomic-hgvs.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                152. Observation.component:cytogenomic-nomenclature
                Slice Namecytogenomic-nomenclature
                Definition

                Fully describes a variant with a single code. Typically a large variant such as a mosaic, abnormal chromosome numbers, etc.


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortCytogenomic Nomenclature (ISCN)Component results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                154. Observation.component:cytogenomic-nomenclature.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                156. Observation.component:cytogenomic-nomenclature.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short81291-7Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "81291-7"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                158. Observation.component:cytogenomic-nomenclature.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                ShortActual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                Binding

                Binding not yet defined

                TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                160. Observation.component:cytogenomic-nomenclature.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                162. Observation.component:genomic-ref-seq
                Slice Namegenomic-ref-seq
                Definition

                Die genomische Referenzsequenz-ID wie z.B. NC_000007.14


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortGenomische ReferenzsequenzComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                164. Observation.component:genomic-ref-seq.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                166. Observation.component:genomic-ref-seq.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short48013-7Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "48013-7"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                168. Observation.component:genomic-ref-seq.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                ShortVersioned genomic reference sequence identifierActual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                Binding

                Multiple bindings acceptable (NCBI or LRG)

                TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                170. Observation.component:genomic-ref-seq.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                172. Observation.component:representative-protein-ref-seq
                Slice Namerepresentative-protein-ref-seq
                Definition

                ID of the protein reference sequence, which includes transcribed and non transcribed stretches. It covers the entire protein described.


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortProtein Reference SequenceComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                174. Observation.component:representative-protein-ref-seq.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                176. Observation.component:representative-protein-ref-seq.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Shortprotein-ref-seqType of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                    "code" : "protein-ref-seq"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                178. Observation.component:representative-protein-ref-seq.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                ShortVersioned protein reference sequence identifierActual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                Binding

                Multiple bindings acceptable (NCBI or LRG)

                TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                180. Observation.component:representative-protein-ref-seq.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                182. Observation.component:representative-transcript-ref-seq
                Slice Namerepresentative-transcript-ref-seq
                Definition

                Die Transkript-Referenzsequenz-ID wie z.B. NM_004333.4


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortTranskript-ReferenzsequenzComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                184. Observation.component:representative-transcript-ref-seq.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                186. Observation.component:representative-transcript-ref-seq.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short51958-7Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "51958-7"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                188. Observation.component:representative-transcript-ref-seq.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                ShortVersioned transcript reference sequence identifierActual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                Binding

                Multiple bindings acceptable (NCBI or LRG)

                TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                190. Observation.component:representative-transcript-ref-seq.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                192. Observation.component:exact-start-end
                Slice Nameexact-start-end
                Definition

                Die exakten genomischen Koordinaten der Variante - Start und Ende


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortExakte Start-End-PositionComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                194. Observation.component:exact-start-end.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                196. Observation.component:exact-start-end.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short81254-5Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "81254-5"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                198. Observation.component:exact-start-end.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                200. Observation.component:inner-start-end
                Slice Nameinner-start-end
                Definition

                Der innere Bereich bei strukturellen Varianten


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortInnere Start-End-PositionComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                202. Observation.component:inner-start-end.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                204. Observation.component:inner-start-end.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short81302-2Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "81302-2"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                206. Observation.component:inner-start-end.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                208. Observation.component:outer-start-end
                Slice Nameouter-start-end
                Definition

                Der äußere Bereich bei strukturellen Varianten


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortÄußere Start-End-PositionComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                210. Observation.component:outer-start-end.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                212. Observation.component:outer-start-end.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short81301-4Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "81301-4"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                214. Observation.component:outer-start-end.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                216. Observation.component:coordinate-system
                Slice Namecoordinate-system
                Definition

                These are different ways of identifying nucleotides or amino acids within a sequence. In the 1-based system, the first unit of the polymer (e.g. the first nucleotide) is counted as number 1. In the 0-based system, the number 0 designates the location before the first nucleotide. Different databases and file types may use different systems.


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortCoordinate SystemComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                218. Observation.component:coordinate-system.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                220. Observation.component:coordinate-system.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short92822-6Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "92822-6"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                222. Observation.component:coordinate-system.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                Short0-based interval counting | 0-based character counting | 1-based character countingActual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                BindingUnless not suitable, these codes SHALL be taken from For codes, see LOINC Answer List LL5323-2
                (extensible to http://loinc.org/vs/LL5323-2)
                TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                224. Observation.component:coordinate-system.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                226. Observation.component:ref-allele
                Slice Nameref-allele
                Definition

                Die Nukleotidsequenz des Referenz-Allels


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortReferenz-AllelComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                228. Observation.component:ref-allele.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                230. Observation.component:ref-allele.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short69547-8Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "69547-8"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                232. Observation.component:ref-allele.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                234. Observation.component:alt-allele
                Slice Namealt-allele
                Definition

                Die Nukleotidsequenz des alternativen - mutierten - Allels


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortAlternatives AllelComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                236. Observation.component:alt-allele.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                238. Observation.component:alt-allele.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short69551-0Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "69551-0"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                240. Observation.component:alt-allele.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                242. Observation.component:coding-change-type
                Slice Namecoding-change-type
                Definition

                Der Typ der DNA-Änderung wie z.B. Substitution oder Deletion


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortDNA-ÄnderungstypComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                244. Observation.component:coding-change-type.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                246. Observation.component:coding-change-type.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short48019-4Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "48019-4"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                248. Observation.component:coding-change-type.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                Shortdeletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many)Actual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                BindingUnless not suitable, these codes SHALL be taken from For codes, see DNA Change Type
                (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs)

                Concepts in sequence ontology under SO:0002072

                TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                250. Observation.component:coding-change-type.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                252. Observation.component:genomic-source-class
                Slice Namegenomic-source-class
                Definition

                Die Herkunft der Variante wie z.B. somatisch oder Keimbahn


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortGenomische HerkunftsklasseComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                254. Observation.component:genomic-source-class.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                256. Observation.component:genomic-source-class.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short48002-0Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "48002-0"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                258. Observation.component:genomic-source-class.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                ShortGermline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novoActual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                BindingUnless not suitable, these codes SHALL be taken from For codes, see LOINC Answer List LL378-1
                (extensible to http://loinc.org/vs/LL378-1)
                TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                260. Observation.component:genomic-source-class.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                262. Observation.component:sample-allelic-frequency
                Slice Namesample-allelic-frequency
                Definition

                Die Häufigkeit des varianten Allels in der untersuchten Probe


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortAllelfrequenz in der ProbeComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                264. Observation.component:sample-allelic-frequency.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                266. Observation.component:sample-allelic-frequency.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short81258-6Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "81258-6"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                268. Observation.component:sample-allelic-frequency.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                270. Observation.component:allelic-read-depth
                Slice Nameallelic-read-depth
                Definition

                Die Anzahl der Reads die das Allel unterstützen


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortAllelische LesetiefeComponent results
                Comments

                See here for usage guidance.


                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                272. Observation.component:allelic-read-depth.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                274. Observation.component:allelic-read-depth.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short82121-5Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "82121-5"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                276. Observation.component:allelic-read-depth.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                278. Observation.component:allelic-state
                Slice Nameallelic-state
                Definition

                Der Allelstatus wie z.B. heterozygot oder homozygot


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortAllelstatusComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                280. Observation.component:allelic-state.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                282. Observation.component:allelic-state.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short53034-5Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "53034-5"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                284. Observation.component:allelic-state.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                ShortHeteroplasmic | Homoplasmic | Homozygous | Heterozygous | HemizygousActual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                BindingUnless not suitable, these codes SHALL be taken from For codes, see LOINC Answer List LL381-5
                (extensible to http://loinc.org/vs/LL381-5)
                TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                286. Observation.component:allelic-state.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                288. Observation.component:variant-inheritance
                Slice Namevariant-inheritance
                Definition

                Die Vererbungsart der Variante wie z.B. maternal oder paternal


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortVarianten-VererbungComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                290. Observation.component:variant-inheritance.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                292. Observation.component:variant-inheritance.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short94186-4Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "94186-4"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                294. Observation.component:variant-inheritance.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                ShortMaternal | Paternal | UnknownActual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                BindingUnless not suitable, these codes SHALL be taken from For codes, see LOINC Answer List LL5489-1
                (extensible to http://loinc.org/vs/LL5489-1)
                TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                296. Observation.component:variant-inheritance.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                298. Observation.component:variant-inheritance-basis
                Slice Namevariant-inheritance-basis
                Definition

                The method by which the variant inheritance is determined.


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortEvidential basis for variant inheritanceComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                300. Observation.component:variant-inheritance-basis.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                302. Observation.component:variant-inheritance-basis.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                ShortBasis for allelic phaseType of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "82309-6"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                304. Observation.component:variant-inheritance-basis.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                ShortDirectly measured | Family DNA | Family history | Inferred from population dataActual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                BindingUnless not suitable, these codes SHALL be taken from For codes, see LOINC Answer List LL4050-2
                (extensible to http://loinc.org/vs/LL4050-2)
                TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                306. Observation.component:variant-inheritance-basis.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                308. Observation.component:variation-code
                Slice Namevariation-code
                Definition

                Eindeutiger Identifikator der Variante aus externen Datenbanken wie z.B. ClinVar oder dbSNP


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortVarianten-CodeComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                310. Observation.component:variation-code.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                312. Observation.component:variation-code.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short81252-9Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "81252-9"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                314. Observation.component:variation-code.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                ShortClinVar ID or similarActual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                Binding

                Multiple bindings acceptable

                TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                316. Observation.component:variation-code.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                318. Observation.component:representative-protein-hgvs
                Slice Namerepresentative-protein-hgvs
                Definition

                Die Aminosäure-Änderung in HGVS-Nomenklatur auf Proteinebene


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortAminosäure-Änderung p.HGVSComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                320. Observation.component:representative-protein-hgvs.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                322. Observation.component:representative-protein-hgvs.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short48005-3Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "48005-3"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                324. Observation.component:representative-protein-hgvs.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                ShortA valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys)Actual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                BindingThe codes SHALL be taken from For codes, see Human Genome Variation Society (HGVS) Nomenclature
                (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs)
                TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                326. Observation.component:representative-protein-hgvs.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                328. Observation.component:copy-number
                Slice Namecopy-number
                Definition

                Die Anzahl der Kopien eines genomischen Abschnitts


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortKopienzahlComponent results
                Comments

                Copy number variants are often described with a single copy number value. However, due to the nature of assays, such as qPCR and microarray, it can be difficult to assign an exact copy number. Therefore, labs sometimes report a range instead of an exact copy number. They may alternatively choose to report decimal numbers, even if whole numbers are biologically correct.

                In general, it can be difficult to estimate a copy number from measurements taken on a heterogenous population of cells, such as a tumor. As indicated in the ISCN 2020 specifications, it is appropriate to express the measurements using a range. Furthermore, regardless of cell population, many assays use fluorescent probes to detect copy number. These testing methodologies do not always provide an exact, discrete value for this data point.


                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                There SHALL be a code with a value of '1' if there is a value. If system is present, it SHALL be UCUM.


                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                330. Observation.component:copy-number.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                332. Observation.component:copy-number.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short82155-3Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "82155-3"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                334. Observation.component:copy-number.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                336. Observation.component:variant-confidence-status
                Slice Namevariant-confidence-status
                Definition

                Der Vertrauensstatus der Variantendetektion


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortKonfidenzstatus der VarianteComponent results
                Comments

                See here for usage guidance.


                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                338. Observation.component:variant-confidence-status.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                340. Observation.component:variant-confidence-status.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Shortvariant-confidence-statusType of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                    "code" : "variant-confidence-status"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                342. Observation.component:variant-confidence-status.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                ShortHigh | Intermediate | LowActual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                BindingThe codes SHALL be taken from For codes, see Variant Confidence Status
                (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs)
                TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                344. Observation.component:variant-confidence-status.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                346. Observation.component:repeat-motif
                Slice Namerepeat-motif
                Definition

                Nucleotides of a repeat expansion motif.


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortRepeat MotifComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                348. Observation.component:repeat-motif.extension:repeat-motif-order
                Slice Namerepeat-motif-order
                Definition

                Use to group and order repeat expansion motifs.

                ShortRepeat Motif Order
                Comments

                If there are multiple repeat expansion pairs, this must be used both to indicate the sequence position of a given repeat-motif and repeat-number pair and to group the related components together. Components with the same extension value describe the same motif.

                Control0..1
                This element is affected by the following invariants: ele-1
                TypeExtension(Repeat Motif Order) (Extension Type: positiveInt)
                Requirements

                The value must be a natural number starting from 1 and increasing sequentially

                Alternate Namesextensions, user content
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                350. Observation.component:repeat-motif.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                352. Observation.component:repeat-motif.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Shortrepeat-motifType of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                    "code" : "repeat-motif"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                354. Observation.component:repeat-motif.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                ShortCAGActual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                Typestring, dateTime, boolean, SampledData, Quantity, Period, Ratio, integer, time, Range, CodeableConcept
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                356. Observation.component:repeat-motif.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                358. Observation.component:repeat-number
                Slice Namerepeat-number
                Definition

                Number of repeats of a repeat expansion.


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortRepeat NumberComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                360. Observation.component:repeat-number.extension:repeat-motif-order
                Slice Namerepeat-motif-order
                Definition

                Use to group and order repeat expansion motifs.

                ShortRepeat Motif Order
                Comments

                If there are multiple repeat expansion pairs, this must be used both to indicate the sequence position of a given repeat-motif and repeat-number pair and to group the related components together. Components with the same extension value describe the same motif.

                Control0..1
                This element is affected by the following invariants: ele-1
                TypeExtension(Repeat Motif Order) (Extension Type: positiveInt)
                Requirements

                The value must be a natural number starting from 1 and increasing sequentially

                Alternate Namesextensions, user content
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                362. Observation.component:repeat-number.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                364. Observation.component:repeat-number.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Shortrepeat-numberType of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                    "code" : "repeat-number"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                366. Observation.component:repeat-number.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                Short40Actual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                TypeQuantity, dateTime, boolean, string, SampledData, Period, Ratio, integer, time, Range, CodeableConcept
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                368. Observation.component:repeat-number.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                370. Observation.component:dna-region
                Slice Namedna-region
                Definition

                Ein lesbarer Name für die untersuchte Region. Typischerweise Exon # oder Intron # oder andere.


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortDNA-RegionsnameComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                372. Observation.component:dna-region.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                374. Observation.component:dna-region.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                Short47999-8Type of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "47999-8"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                376. Observation.component:dna-region.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                ShortActual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                Typestring, dateTime, boolean, SampledData, Quantity, Period, Ratio, integer, time, Range, CodeableConcept
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                378. Observation.component:dna-region.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                380. Observation.component:gene-fusion
                Slice Namegene-fusion
                Definition

                Details zur Genfusion in Blut oder Gewebe mittels molekulargenetischer Methode


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortGenfusionComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                382. Observation.component:gene-fusion.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                384. Observation.component:gene-fusion.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                ShortType of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "95123-6"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                386. Observation.component:gene-fusion.value[x]
                Definition

                The information determined as a result of making the observation, if the information has a simple value.

                ShortHGNC-Format für Genfusionen GENESYMBOL1::GENESYMBOL2 und Readthrough-Transkripte GENESYMBOL1-GENESYMBOL2Actual component result
                Comments

                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                Control10..1
                This element is affected by the following invariants: ele-1
                BindingUnless not suitable, these codes SHALL be taken from For codes, see HUGO Gene Nomenclature Committee Gene Names (HGNC)
                (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs)
                TypeCodeableConcept, dateTime, boolean, string, SampledData, Quantity, Period, Ratio, integer, time, Range
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                Is Modifierfalse
                Summarytrue
                Requirements

                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                388. Observation.component:gene-fusion.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                390. Observation.component:detection-limit
                Slice Namedetection-limit
                Definition

                Die Nachweisgrenze des Laborgeräts


                Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                ShortNachweisgrenzeComponent results
                Comments

                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                Control0..1*
                This element is affected by the following invariants: ele-1
                TypeBackboneElement
                Is Modifierfalse
                Must Supporttrue
                Summarytrue
                Requirements

                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                392. Observation.component:detection-limit.modifierExtension
                Definition

                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                ShortExtensions that cannot be ignored even if unrecognized
                Comments

                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                Control0..*
                This element is affected by the following invariants: ele-1
                TypeExtension
                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                Summarytrue
                Requirements

                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                Alternate Namesextensions, user content, modifiers
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                394. Observation.component:detection-limit.code
                Definition

                Describes what was observed. Sometimes this is called the observation "code".

                ShortType of component observation (code / type)
                Comments

                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                Control1..1
                This element is affected by the following invariants: ele-1
                BindingFor example codes, see LOINCCodeshttp://hl7.org/fhir/ValueSet/observation-codes|4.0.1
                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                Codes identifying names of simple observations.

                TypeCodeableConcept
                Is Modifierfalse
                Summarytrue
                Requirements

                Knowing what kind of observation is being made is essential to understanding the observation.

                Pattern Value{
                  "coding" : [{
                    "system" : "http://loinc.org",
                    "code" : "87706-8"
                  }]
                }
                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                396. Observation.component:detection-limit.dataAbsentReason
                Definition

                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                ShortWhy the component result is missing
                Comments

                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                Control0..1
                This element is affected by the following invariants: ele-1, obs-6
                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason|4.0.1
                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                Codes specifying why the result (Observation.value[x]) is missing.

                TypeCodeableConcept
                Is Modifierfalse
                Requirements

                For many results it is necessary to handle exceptional values in measurements.

                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))

                Guidance on how to interpret the contents of this table can be foundhere

                0. Observation
                2. Observation.status
                ShortUntersuchungsstatus
                4. Observation.code
                ShortGenetische Variante (LOINC 69548-6)
                6. Observation.subject
                ShortPatient/in
                8. Observation.effective[x]
                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                SlicingThis element introduces a set of slices on Observation.effective[x]. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                • type @ $this
                • 10. Observation.effective[x]:effectiveDateTime
                  Slice NameeffectiveDateTime
                  ShortZeitpunkt der Bestimmung
                  Control0..1
                  TypedateTime
                  [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                  Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                  Must Supporttrue
                  12. Observation.interpretation
                  ShortAusprägung (M=Mutation, W=Wildtyp, N=nicht bestimmbar, U=unbekannt)
                  14. Observation.specimen
                  ShortTumorprobe
                  16. Observation.component:gene-studied
                  Slice Namegene-studied
                  ShortUntersuchtes Gen (BRCA1/BRCA2/PALB2)

                  Guidance on how to interpret the contents of this table can be foundhere

                  0. Observation
                  Definition

                  Measurements and simple assertions made about a patient, device or other subject.

                  ShortVariant
                  Comments

                  Used for simple observations such as device measurements, laboratory atomic results, vital signs, height, weight, smoking status, comments, etc. Other resources are used to provide context for observations such as laboratory reports, etc.

                  Control0..*
                  Alternate NamesVital Signs, Measurement, Results, Tests
                  Invariantsdom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources (contained.contained.empty())
                  dom-4: If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated (contained.meta.versionId.empty() and contained.meta.lastUpdated.empty())
                  dom-3: If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource (contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty())
                  dom-6: A resource should have narrative for robust management (text.`div`.exists())
                  dom-5: If a resource is contained in another resource, it SHALL NOT have a security label (contained.meta.security.empty())
                  obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present (value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty())
                  obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present (dataAbsentReason.empty() or value.empty())
                  2. Observation.id
                  Definition

                  The logical id of the resource, as used in the URL for the resource. Once assigned, this value never changes.

                  ShortLogical id of this artifact
                  Comments

                  The only time that a resource does not have an id is when it is being submitted to the server using a create operation.

                  Control0..1
                  Typeid
                  Summarytrue
                  4. Observation.meta
                  Definition

                  The metadata about the resource. This is content that is maintained by the infrastructure. Changes to the content might not always be associated with version changes to the resource.

                  ShortMetadata about the resource
                  Control0..1
                  This element is affected by the following invariants: ele-1
                  TypeMeta
                  Summarytrue
                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                  6. Observation.meta.id
                  Definition

                  Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                  ShortUnique id for inter-element referencing
                  Control0..1
                  Typestring
                  XML FormatIn the XML format, this property is represented as an attribute.
                  8. Observation.meta.extension
                  Definition

                  May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                  ShortAdditional content defined by implementations
                  Comments

                  There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                  Control0..*
                  This element is affected by the following invariants: ele-1
                  TypeExtension
                  Alternate Namesextensions, user content
                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                  ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                  SlicingThis element introduces a set of slices on Observation.meta.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                  • value @ url
                  • 10. Observation.meta.versionId
                    Definition

                    The version specific identifier, as it appears in the version portion of the URL. This value changes when the resource is created, updated, or deleted.

                    ShortVersion specific identifier
                    Comments

                    The server assigns this value, and ignores what the client specifies, except in the case that the server is imposing version integrity on updates/deletes.

                    Control0..1
                    This element is affected by the following invariants: ele-1
                    Typeid
                    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                    Summarytrue
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    12. Observation.meta.lastUpdated
                    Definition

                    When the resource last changed - e.g. when the version changed.

                    ShortWhen the resource version last changed
                    Comments

                    This value is always populated except when the resource is first being created. The server / resource manager sets this value; what a client provides is irrelevant. This is equivalent to the HTTP Last-Modified and SHOULD have the same value on a read interaction.

                    Control0..1
                    This element is affected by the following invariants: ele-1
                    Typeinstant
                    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                    Summarytrue
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    14. Observation.meta.source
                    Definition

                    A uri that identifies the source system of the resource. This provides a minimal amount of Provenance information that can be used to track or differentiate the source of information in the resource. The source may identify another FHIR server, document, message, database, etc.

                    ShortIdentifies where the resource comes from
                    Comments

                    In the provenance resource, this corresponds to Provenance.entity.what[x]. The exact use of the source (and the implied Provenance.entity.role) is left to implementer discretion. Only one nominated source is allowed; for additional provenance details, a full Provenance resource should be used.

                    This element can be used to indicate where the current master source of a resource that has a canonical URL if the resource is no longer hosted at the canonical URL.

                    Control0..1
                    This element is affected by the following invariants: ele-1
                    Typeuri
                    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                    Summarytrue
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    16. Observation.meta.profile
                    Definition

                    A list of profiles (references to StructureDefinition resources) that this resource claims to conform to. The URL is a reference to StructureDefinition.url.

                    ShortProfiles this resource claims to conform to
                    Comments

                    It is up to the server and/or other infrastructure of policy to determine whether/how these claims are verified and/or updated over time. The list of profile URLs is a set.

                    Control0..*
                    This element is affected by the following invariants: ele-1
                    Typecanonical(StructureDefinition)
                    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                    Must Supporttrue
                    Summarytrue
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    18. Observation.meta.security
                    Definition

                    Security labels applied to this resource. These tags connect specific resources to the overall security policy and infrastructure.

                    ShortSecurity Labels applied to this resource
                    Comments

                    The security labels can be updated without changing the stated version of the resource. The list of security labels is a set. Uniqueness is based the system/code, and version and display are ignored.

                    Control0..*
                    This element is affected by the following invariants: ele-1
                    BindingUnless not suitable, these codes SHALL be taken from All Security Labels
                    (extensible to http://hl7.org/fhir/ValueSet/security-labels)

                    Security Labels from the Healthcare Privacy and Security Classification System.

                    TypeCoding
                    Summarytrue
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    20. Observation.meta.tag
                    Definition

                    Tags applied to this resource. Tags are intended to be used to identify and relate resources to process and workflow, and applications are not required to consider the tags when interpreting the meaning of a resource.

                    ShortTags applied to this resource
                    Comments

                    The tags can be updated without changing the stated version of the resource. The list of tags is a set. Uniqueness is based the system/code, and version and display are ignored.

                    Control0..*
                    This element is affected by the following invariants: ele-1
                    BindingFor example codes, see CommonTags
                    (example to http://hl7.org/fhir/ValueSet/common-tags)

                    Codes that represent various types of tags, commonly workflow-related; e.g. "Needs review by Dr. Jones".

                    TypeCoding
                    Summarytrue
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    22. Observation.implicitRules
                    Definition

                    A reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content. Often, this is a reference to an implementation guide that defines the special rules along with other profiles etc.

                    ShortA set of rules under which this content was created
                    Comments

                    Asserting this rule set restricts the content to be only understood by a limited set of trading partners. This inherently limits the usefulness of the data in the long term. However, the existing health eco-system is highly fractured, and not yet ready to define, collect, and exchange data in a generally computable sense. Wherever possible, implementers and/or specification writers should avoid using this element. Often, when used, the URL is a reference to an implementation guide that defines these special rules as part of it's narrative along with other profiles, value sets, etc.

                    Control0..1
                    This element is affected by the following invariants: ele-1
                    Typeuri
                    Is Modifiertrue because This element is labeled as a modifier because the implicit rules may provide additional knowledge about the resource that modifies it's meaning or interpretation
                    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                    Summarytrue
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    24. Observation.language
                    Definition

                    The base language in which the resource is written.

                    ShortLanguage of the resource content
                    Comments

                    Language is provided to support indexing and accessibility (typically, services such as text to speech use the language tag). The html language tag in the narrative applies to the narrative. The language tag on the resource may be used to specify the language of other presentations generated from the data in the resource. Not all the content has to be in the base language. The Resource.language should not be assumed to apply to the narrative automatically. If a language is specified, it should it also be specified on the div element in the html (see rules in HTML5 for information about the relationship between xml:lang and the html lang attribute).

                    Control0..1
                    This element is affected by the following invariants: ele-1
                    BindingThe codes SHOULD be taken from CommonLanguages
                    (preferred to http://hl7.org/fhir/ValueSet/languages)

                    A human language.

                    Additional BindingsPurpose
                    AllLanguagesMax Binding
                    Typecode
                    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    26. Observation.text
                    Definition

                    A human-readable narrative that contains a summary of the resource and can be used to represent the content of the resource to a human. The narrative need not encode all the structured data, but is required to contain sufficient detail to make it "clinically safe" for a human to just read the narrative. Resource definitions may define what content should be represented in the narrative to ensure clinical safety.

                    ShortText summary of the resource, for human interpretation
                    Comments

                    Contained resources do not have narrative. Resources that are not contained SHOULD have a narrative. In some cases, a resource may only have text with little or no additional discrete data (as long as all minOccurs=1 elements are satisfied). This may be necessary for data from legacy systems where information is captured as a "text blob" or where text is additionally entered raw or narrated and encoded information is added later.

                    Control0..1
                    This element is affected by the following invariants: ele-1
                    TypeNarrative
                    Alternate Namesnarrative, html, xhtml, display
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    28. Observation.contained
                    Definition

                    These resources do not have an independent existence apart from the resource that contains them - they cannot be identified independently, and nor can they have their own independent transaction scope.

                    ShortContained, inline Resources
                    Comments

                    This should never be done when the content can be identified properly, as once identification is lost, it is extremely difficult (and context dependent) to restore it again. Contained resources may have profiles and tags In their meta elements, but SHALL NOT have security labels.

                    Control0..*
                    TypeResource
                    Alternate Namesinline resources, anonymous resources, contained resources
                    30. Observation.extension
                    Definition

                    May be used to represent additional information that is not part of the basic definition of the resource. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                    ShortAdditional content defined by implementations
                    Comments

                    There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                    Control0..*
                    This element is affected by the following invariants: ele-1
                    TypeExtension
                    Alternate Namesextensions, user content
                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                    ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                    SlicingThis element introduces a set of slices on Observation.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                    • value @ url
                    • 32. Observation.extension:secondary-finding
                      Slice Namesecondary-finding
                      Definition

                      Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement.

                      For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings.

                      ShortSecondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings
                      Comments

                      There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                      Control0..1
                      This element is affected by the following invariants: ele-1
                      TypeExtension(Observation Secondary Finding) (Extension Type: CodeableConcept)
                      Alternate Namesextensions, user content
                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                      34. Observation.extension:body-structure
                      Slice Namebody-structure
                      Definition

                      Record details about the anatomical location of a specimen or body part. This resource may be used when a coded concept does not provide the necessary detail needed for the use case.

                      ShortTarget anatomic location or structure
                      Comments

                      There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                      Control0..1
                      This element is affected by the following invariants: ele-1
                      TypeExtension(BodyStructure Reference) (Extension Type: Reference(BodyStructure))
                      Alternate Namesextensions, user content
                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                      36. Observation.modifierExtension
                      Definition

                      May be used to represent additional information that is not part of the basic definition of the resource and that modifies the understanding of the element that contains it and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                      Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                      ShortExtensions that cannot be ignored
                      Comments

                      There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                      Control0..*
                      This element is affected by the following invariants: ele-1
                      TypeExtension
                      Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the resource that contains them
                      Requirements

                      Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                      Alternate Namesextensions, user content
                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                      SlicingThis element introduces a set of slices on Observation.modifierExtension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                      • value @ url
                      • 38. Observation.identifier
                        Definition

                        A unique identifier assigned to this observation.

                        ShortBusiness Identifier for observation
                        NoteThis is a business identifier, not a resource identifier (see discussion)
                        Control0..*
                        This element is affected by the following invariants: ele-1
                        TypeIdentifier
                        Summarytrue
                        Requirements

                        Allows observations to be distinguished and referenced.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        40. Observation.basedOn
                        Definition

                        A plan, proposal or order that is fulfilled in whole or in part by this event. For example, a MedicationRequest may require a patient to have laboratory test performed before it is dispensed.

                        ShortFulfills plan, proposal or order
                        Comments

                        References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository.

                        Control0..*
                        This element is affected by the following invariants: ele-1
                        TypeReference(CarePlan, DeviceRequest, ImmunizationRecommendation, MedicationRequest, NutritionOrder, ServiceRequest)
                        Summarytrue
                        Requirements

                        Allows tracing of authorization for the event and tracking whether proposals/recommendations were acted upon.

                        Alternate NamesFulfills
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ref-1: SHALL have a contained resource if a local reference is provided (reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids')))
                        42. Observation.partOf
                        Definition

                        A larger event of which this particular Observation is a component or step. For example, an observation as part of a procedure.

                        ShortPart of referenced event
                        Comments

                        To link an Observation to an Encounter use encounter. See the Notes below for guidance on referencing another Observation.

                        Control0..*
                        This element is affected by the following invariants: ele-1
                        TypeReference(MedicationAdministration, MedicationDispense, MedicationStatement, Procedure, Immunization, ImagingStudy, Genomic Study)
                        Summarytrue
                        Alternate NamesContainer
                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        ref-1: SHALL have a contained resource if a local reference is provided (reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids')))
                        44. Observation.status
                        Definition

                        Status der Beobachtung

                        ShortUntersuchungsstatus
                        Comments

                        This element is labeled as a modifier because the status contains codes that mark the resource as not currently valid.

                        Control1..1
                        This element is affected by the following invariants: ele-1
                        BindingThe codes SHALL be taken from ObservationStatus
                        (required to http://hl7.org/fhir/ValueSet/observation-status|4.0.1)

                        Codes providing the status of an observation.

                        Typecode
                        Is Modifiertrue because This element is labeled as a modifier because it is a status element that contains status entered-in-error which means that the resource should not be treated as valid
                        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                        Must Supporttrue
                        Summarytrue
                        Requirements

                        Need to track the status of individual results. Some results are finalized before the whole report is finalized.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        46. Observation.category
                        Definition

                        Klassifizierung der Beobachtungsart

                        ShortKategorie
                        Comments

                        In addition to the required category valueset, this element allows various categorization schemes based on the owner’s definition of the category and effectively multiple categories can be used at once. The level of granularity is defined by the category concepts in the value set.

                        Control2..*
                        This element is affected by the following invariants: ele-1
                        BindingThe codes SHOULD be taken from ObservationCategoryCodes
                        (preferred to http://hl7.org/fhir/ValueSet/observation-category)

                        Codes for high level observation categories.

                        TypeCodeableConcept
                        Must Supporttrue
                        Requirements

                        Used for filtering what observations are retrieved and displayed.

                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                        SlicingThis element introduces a set of slices on Observation.category. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                        • value @ coding
                        • 48. Observation.category:labCategory
                          Slice NamelabCategory
                          Definition

                          A code that classifies the general type of observation being made.

                          ShortClassification of type of observation
                          Comments

                          In addition to the required category valueset, this element allows various categorization schemes based on the owner’s definition of the category and effectively multiple categories can be used at once. The level of granularity is defined by the category concepts in the value set.

                          Control1..1
                          This element is affected by the following invariants: ele-1
                          BindingThe codes SHOULD be taken from ObservationCategoryCodes
                          (preferred to http://hl7.org/fhir/ValueSet/observation-category)

                          Codes for high level observation categories.

                          TypeCodeableConcept
                          Requirements

                          Used for filtering what observations are retrieved and displayed.

                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          50. Observation.category:labCategory.id
                          Definition

                          Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                          ShortUnique id for inter-element referencing
                          Control0..1
                          Typestring
                          XML FormatIn the XML format, this property is represented as an attribute.
                          52. Observation.category:labCategory.extension
                          Definition

                          May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                          ShortAdditional content defined by implementations
                          Comments

                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                          Control0..*
                          This element is affected by the following invariants: ele-1
                          TypeExtension
                          Alternate Namesextensions, user content
                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                          SlicingThis element introduces a set of slices on Observation.category.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                          • value @ url
                          • 54. Observation.category:labCategory.coding
                            Definition

                            A reference to a code defined by a terminology system.

                            ShortCode defined by a terminology system
                            Comments

                            Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.

                            Control1..1
                            This element is affected by the following invariants: ele-1
                            TypeCoding
                            Summarytrue
                            Requirements

                            Allows for alternative encodings within a code system, and translations to other code systems.

                            Pattern Value{
                              "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
                              "code" : "laboratory"
                            }
                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                            56. Observation.category:labCategory.text
                            Definition

                            A human language representation of the concept as seen/selected/uttered by the user who entered the data and/or which represents the intended meaning of the user.

                            ShortPlain text representation of the concept
                            Comments

                            Very often the text is the same as a displayName of one of the codings.

                            Control0..1
                            This element is affected by the following invariants: ele-1
                            Typestring
                            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                            Summarytrue
                            Requirements

                            The codes from the terminologies do not always capture the correct meaning with all the nuances of the human using them, or sometimes there is no appropriate code at all. In these cases, the text is used to capture the full meaning of the source.

                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                            58. Observation.category:geCategory
                            Slice NamegeCategory
                            Definition

                            A code that classifies the general type of observation being made.

                            ShortClassification of type of observation
                            Comments

                            In addition to the required category valueset, this element allows various categorization schemes based on the owner’s definition of the category and effectively multiple categories can be used at once. The level of granularity is defined by the category concepts in the value set.

                            Control1..1
                            This element is affected by the following invariants: ele-1
                            BindingThe codes SHOULD be taken from ObservationCategoryCodes
                            (preferred to http://hl7.org/fhir/ValueSet/observation-category)

                            Codes for high level observation categories.

                            TypeCodeableConcept
                            Requirements

                            Used for filtering what observations are retrieved and displayed.

                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                            60. Observation.category:geCategory.id
                            Definition

                            Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                            ShortUnique id for inter-element referencing
                            Control0..1
                            Typestring
                            XML FormatIn the XML format, this property is represented as an attribute.
                            62. Observation.category:geCategory.extension
                            Definition

                            May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                            ShortAdditional content defined by implementations
                            Comments

                            There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                            Control0..*
                            This element is affected by the following invariants: ele-1
                            TypeExtension
                            Alternate Namesextensions, user content
                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                            ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                            SlicingThis element introduces a set of slices on Observation.category.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                            • value @ url
                            • 64. Observation.category:geCategory.coding
                              Definition

                              A reference to a code defined by a terminology system.

                              ShortCode defined by a terminology system
                              Comments

                              Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.

                              Control1..1
                              This element is affected by the following invariants: ele-1
                              TypeCoding
                              Summarytrue
                              Requirements

                              Allows for alternative encodings within a code system, and translations to other code systems.

                              Pattern Value{
                                "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
                                "code" : "GE"
                              }
                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              66. Observation.category:geCategory.text
                              Definition

                              A human language representation of the concept as seen/selected/uttered by the user who entered the data and/or which represents the intended meaning of the user.

                              ShortPlain text representation of the concept
                              Comments

                              Very often the text is the same as a displayName of one of the codings.

                              Control0..1
                              This element is affected by the following invariants: ele-1
                              Typestring
                              Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                              Summarytrue
                              Requirements

                              The codes from the terminologies do not always capture the correct meaning with all the nuances of the human using them, or sometimes there is no appropriate code at all. In these cases, the text is used to capture the full meaning of the source.

                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              68. Observation.code
                              Definition

                              Code zur Identifizierung der Varianten-Beobachtung

                              ShortGenetische Variante (LOINC 69548-6)
                              Comments

                              All code-value and, if present, component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                              Control1..1
                              This element is affected by the following invariants: ele-1
                              BindingFor example codes, see LOINCCodes
                              (example to http://hl7.org/fhir/ValueSet/observation-codes)

                              Codes identifying names of simple observations.

                              TypeCodeableConcept
                              Must Supporttrue
                              Summarytrue
                              Requirements

                              Knowing what kind of observation is being made is essential to understanding the observation.

                              Alternate NamesName
                              Pattern Value{
                                "coding" : [{
                                  "system" : "http://loinc.org",
                                  "code" : "69548-6"
                                }]
                              }
                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              70. Observation.subject
                              Definition

                              Der Patient oder die Gruppe auf die sich die Variante bezieht

                              ShortPatient/in
                              Comments

                              One would expect this element to be a cardinality of 1..1. The only circumstance in which the subject can be missing is when the observation is made by a device that does not know the patient. In this case, the observation SHALL be matched to a patient through some context/channel matching technique, and at this point, the observation should be updated.

                              Control1..1
                              This element is affected by the following invariants: ele-1
                              TypeReference(Patient)
                              Must Supporttrue
                              Summarytrue
                              Requirements

                              Observations have no value if you don't know who or what they're about.

                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              ref-1: SHALL have a contained resource if a local reference is provided (reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids')))
                              72. Observation.focus
                              Definition

                              The actual focus of an observation when it is not the patient of record representing something or someone associated with the patient such as a spouse, parent, fetus, or donor. For example, fetus observations in a mother's record. The focus of an observation could also be an existing condition, an intervention, the subject's diet, another observation of the subject, or a body structure such as tumor or implanted device. An example use case would be using the Observation resource to capture whether the mother is trained to change her child's tracheostomy tube. In this example, the child is the patient of record and the mother is the focus.

                              ShortWhat the observation is about, when it is not about the subject of record
                              Comments

                              Typically, an observation is made about the subject - a patient, or group of patients, location, or device - and the distinction between the subject and what is directly measured for an observation is specified in the observation code itself ( e.g., "Blood Glucose") and does not need to be represented separately using this element. Use specimen if a reference to a specimen is required. If a code is required instead of a resource use either bodysite for bodysites or the standard extension focusCode.

                              Control0..*
                              This element is affected by the following invariants: ele-1
                              TypeReference(MII PR Onkologie Diagnose Primärtumor)
                              Must Supporttrue
                              Summarytrue
                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              ref-1: SHALL have a contained resource if a local reference is provided (reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids')))
                              74. Observation.encounter
                              Definition

                              The healthcare event (e.g. a patient and healthcare provider interaction) during which this observation is made.

                              ShortHealthcare event during which this observation is made
                              Comments

                              This will typically be the encounter the event occurred within, but some events may be initiated prior to or after the official completion of an encounter but still be tied to the context of the encounter (e.g. pre-admission laboratory tests).

                              Control0..1
                              This element is affected by the following invariants: ele-1
                              TypeReference(Encounter)
                              Must Supporttrue
                              Summarytrue
                              Requirements

                              For some observations it may be important to know the link between an observation and a particular encounter.

                              Alternate NamesContext
                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              ref-1: SHALL have a contained resource if a local reference is provided (reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids')))
                              76. Observation.effective[x]
                              Definition

                              Klinisch relevanter Zeitpunkt oder Zeitraum der Beobachtung

                              ShortZeitpunkt der Beobachtung
                              Comments

                              At least a date should be present unless this observation is a historical report. For recording imprecise or "fuzzy" times (For example, a blood glucose measurement taken "after breakfast") use the Timing datatype which allow the measurement to be tied to regular life events.

                              Control0..1
                              This element is affected by the following invariants: ele-1
                              TypeChoice of: dateTime, Period, Timing, instant
                              [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                              Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                              Must Supporttrue
                              Must Support TypesNo must-support rules about the choice of types/profiles
                              Summarytrue
                              Requirements

                              Knowing when an observation was deemed true is important to its relevance as well as determining trends.

                              Alternate NamesOccurrence
                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                              SlicingThis element introduces a set of slices on Observation.effective[x]. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                              • type @ $this
                              • 78. Observation.effective[x]:effectiveDateTime
                                Slice NameeffectiveDateTime
                                Definition

                                Klinisch relevanter Zeitpunkt oder Zeitraum der Beobachtung

                                ShortZeitpunkt der Bestimmung
                                Comments

                                At least a date should be present unless this observation is a historical report. For recording imprecise or "fuzzy" times (For example, a blood glucose measurement taken "after breakfast") use the Timing datatype which allow the measurement to be tied to regular life events.

                                Control0..1
                                This element is affected by the following invariants: ele-1
                                TypedateTime
                                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                Must Supporttrue
                                Summarytrue
                                Requirements

                                Knowing when an observation was deemed true is important to its relevance as well as determining trends.

                                Alternate NamesOccurrence
                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                80. Observation.issued
                                Definition

                                Datum und Uhrzeit der Freigabe der Beobachtung

                                ShortFreigabedatum
                                Comments

                                For Observations that don’t require review and verification, it may be the same as the lastUpdated time of the resource itself. For Observations that do require review and verification for certain updates, it might not be the same as the lastUpdated time of the resource itself due to a non-clinically significant update that doesn’t require the new version to be reviewed and verified again.

                                Control0..1
                                This element is affected by the following invariants: ele-1
                                Typeinstant
                                Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                Must Supporttrue
                                Summarytrue
                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                82. Observation.performer
                                Definition

                                Who was responsible for asserting the observed value as "true".

                                ShortWho is responsible for the observation
                                Comments

                                References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository.

                                Control0..*
                                This element is affected by the following invariants: ele-1
                                TypeReference(Practitioner, PractitionerRole, Organization, CareTeam, Patient, RelatedPerson)
                                Summarytrue
                                Requirements

                                May give a degree of confidence in the observation and also indicates where follow-up questions should be directed.

                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                ref-1: SHALL have a contained resource if a local reference is provided (reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids')))
                                84. Observation.value[x]
                                Definition

                                Das Ergebnis der Variantenanalyse - vorhanden oder abwesend

                                ShortErgebniswert
                                Comments

                                An observation may have; 1) a single value here, 2) both a value and a set of related or component values, or 3) only a set of related or component values. If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                Control0..1
                                This element is affected by the following invariants: ele-1, obs-7
                                TypeCodeableConcept
                                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                Must Supporttrue
                                Summarytrue
                                Requirements

                                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                SlicingThis element introduces a set of slices on Observation.value[x]. The slices areUnordered and Closed, and can be differentiated using the following discriminators:
                                • type @ $this
                                • 86. Observation.value[x]:valueCodeableConcept
                                  Slice NamevalueCodeableConcept
                                  Definition

                                  The presence or absence of the variant described in the components. If not searching for specific variations and merely reporting what's found, the profile's value should be set to 'Present'.

                                  ShortIndeterminate | No call | Present | Absent.
                                  Comments

                                  See here for usage guidance.

                                  Control0..1
                                  This element is affected by the following invariants: ele-1, obs-7
                                  BindingThe codes SHALL be taken from LOINC Answer List LL1971-2
                                  (required to http://loinc.org/vs/LL1971-2)
                                  TypeCodeableConcept
                                  [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                  Must Supporttrue
                                  Summarytrue
                                  Requirements

                                  An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                  88. Observation.value[x]:valueCodeableConcept.id
                                  Definition

                                  Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                  ShortUnique id for inter-element referencing
                                  Control0..1
                                  Typestring
                                  XML FormatIn the XML format, this property is represented as an attribute.
                                  90. Observation.value[x]:valueCodeableConcept.extension
                                  Definition

                                  May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                  ShortAdditional content defined by implementations
                                  Comments

                                  There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                  Control0..*
                                  This element is affected by the following invariants: ele-1
                                  TypeExtension
                                  Alternate Namesextensions, user content
                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                  ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                  SlicingThis element introduces a set of slices on Observation.value[x].extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                  • value @ url
                                  • 92. Observation.value[x]:valueCodeableConcept.coding
                                    Definition

                                    A reference to a code defined by a terminology system.

                                    ShortCode defined by a terminology system
                                    Comments

                                    Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.

                                    Control0..*
                                    This element is affected by the following invariants: ele-1
                                    TypeCoding
                                    Summarytrue
                                    Requirements

                                    Allows for alternative encodings within a code system, and translations to other code systems.

                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                    94. Observation.value[x]:valueCodeableConcept.coding.id
                                    Definition

                                    Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                    ShortUnique id for inter-element referencing
                                    Control0..1
                                    Typestring
                                    XML FormatIn the XML format, this property is represented as an attribute.
                                    96. Observation.value[x]:valueCodeableConcept.coding.extension
                                    Definition

                                    May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                    ShortAdditional content defined by implementations
                                    Comments

                                    There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                    Control0..*
                                    This element is affected by the following invariants: ele-1
                                    TypeExtension
                                    Alternate Namesextensions, user content
                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                    ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                    SlicingThis element introduces a set of slices on Observation.value[x].coding.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                    • value @ url
                                    • 98. Observation.value[x]:valueCodeableConcept.coding.system
                                      Definition

                                      The identification of the code system that defines the meaning of the symbol in the code.

                                      ShortIdentity of the terminology system
                                      Comments

                                      The URI may be an OID (urn:oid:...) or a UUID (urn:uuid:...). OIDs and UUIDs SHALL be references to the HL7 OID registry. Otherwise, the URI should come from HL7's list of FHIR defined special URIs or it should reference to some definition that establishes the system clearly and unambiguously.

                                      Control0..1
                                      This element is affected by the following invariants: ele-1
                                      Typeuri
                                      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                      Must Supporttrue
                                      Summarytrue
                                      Requirements

                                      Need to be unambiguous about the source of the definition of the symbol.

                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                      100. Observation.value[x]:valueCodeableConcept.coding.version
                                      Definition

                                      The version of the code system which was used when choosing this code. Note that a well-maintained code system does not need the version reported, because the meaning of codes is consistent across versions. However this cannot consistently be assured, and when the meaning is not guaranteed to be consistent, the version SHOULD be exchanged.

                                      ShortVersion of the system - if relevant
                                      Comments

                                      Where the terminology does not clearly define what string should be used to identify code system versions, the recommendation is to use the date (expressed in FHIR date format) on which that version was officially published as the version date.

                                      NoteThis is a business version Id, not a resource version Id (see discussion)
                                      Control0..1
                                      This element is affected by the following invariants: ele-1
                                      Typestring
                                      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                      Summarytrue
                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                      102. Observation.value[x]:valueCodeableConcept.coding.code
                                      Definition

                                      A symbol in syntax defined by the system. The symbol may be a predefined code or an expression in a syntax defined by the coding system (e.g. post-coordination).

                                      ShortSymbol in syntax defined by the system
                                      Comments

                                      Note that FHIR strings SHALL NOT exceed 1MB in size

                                      Control0..1
                                      This element is affected by the following invariants: ele-1
                                      Typecode
                                      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                      Must Supporttrue
                                      Summarytrue
                                      Requirements

                                      Need to refer to a particular code in the system.

                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                      104. Observation.value[x]:valueCodeableConcept.coding.display
                                      Definition

                                      A representation of the meaning of the code in the system, following the rules of the system.

                                      ShortRepresentation defined by the system
                                      Comments

                                      Note that FHIR strings SHALL NOT exceed 1MB in size

                                      Control0..1
                                      This element is affected by the following invariants: ele-1
                                      Typestring
                                      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                      Summarytrue
                                      Requirements

                                      Need to be able to carry a human-readable meaning of the code for readers that do not know the system.

                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                      106. Observation.value[x]:valueCodeableConcept.coding.userSelected
                                      Definition

                                      Indicates that this coding was chosen by a user directly - e.g. off a pick list of available items (codes or displays).

                                      ShortIf this coding was chosen directly by the user
                                      Comments

                                      Amongst a set of alternatives, a directly chosen code is the most appropriate starting point for new translations. There is some ambiguity about what exactly 'directly chosen' implies, and trading partner agreement may be needed to clarify the use of this element and its consequences more completely.

                                      Control0..1
                                      This element is affected by the following invariants: ele-1
                                      Typeboolean
                                      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                      Summarytrue
                                      Requirements

                                      This has been identified as a clinical safety criterium - that this exact system/code pair was chosen explicitly, rather than inferred by the system based on some rules or language processing.

                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                      108. Observation.value[x]:valueCodeableConcept.text
                                      Definition

                                      A human language representation of the concept as seen/selected/uttered by the user who entered the data and/or which represents the intended meaning of the user.

                                      ShortPlain text representation of the concept
                                      Comments

                                      Very often the text is the same as a displayName of one of the codings.

                                      Control0..1
                                      This element is affected by the following invariants: ele-1
                                      Typestring
                                      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                      Summarytrue
                                      Requirements

                                      The codes from the terminologies do not always capture the correct meaning with all the nuances of the human using them, or sometimes there is no appropriate code at all. In these cases, the text is used to capture the full meaning of the source.

                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                      110. Observation.dataAbsentReason
                                      Definition

                                      Provides a reason why the expected value in the element Observation.value[x] is missing.

                                      ShortWhy the result is missing
                                      Comments

                                      Null or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "specimen unsatisfactory".

                                      The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Note that an observation may only be reported if there are values to report. For example differential cell counts values may be reported only when > 0. Because of these options, use-case agreements are required to interpret general observations for null or exceptional values.

                                      Control0..1
                                      This element is affected by the following invariants: ele-1, obs-6
                                      BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                      (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                      Codes specifying why the result (Observation.value[x]) is missing.

                                      TypeCodeableConcept
                                      Requirements

                                      For many results it is necessary to handle exceptional values in measurements.

                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                      112. Observation.interpretation
                                      Definition

                                      A categorical assessment of an observation value. For example, high, low, normal.

                                      ShortAusprägung (M=Mutation, W=Wildtyp, N=nicht bestimmbar, U=unbekannt)
                                      Comments

                                      Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                      Control0..*
                                      This element is affected by the following invariants: ele-1
                                      BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                      (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                      Codes identifying interpretations of observations.

                                      TypeCodeableConcept
                                      Must Supporttrue
                                      Requirements

                                      For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                      Alternate NamesAbnormal Flag
                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                      SlicingThis element introduces a set of slices on Observation.interpretation. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                      • type @ $this
                                      • 114. Observation.interpretation:oBDS
                                        Slice NameoBDS
                                        Definition

                                        A categorical assessment of an observation value. For example, high, low, normal.

                                        ShortHigh, low, normal, etc.
                                        Comments

                                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                        Control0..1
                                        This element is affected by the following invariants: ele-1
                                        BindingThe codes SHALL be taken from MII_VS Onkologie Genetische Variante Ausprägung
                                        (required to https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-genetische-variante-auspraegung)

                                        Codes identifying interpretations of observations.

                                        TypeCodeableConcept
                                        Requirements

                                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                        Alternate NamesAbnormal Flag
                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                        116. Observation.interpretation:oBDS.id
                                        Definition

                                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                        ShortUnique id for inter-element referencing
                                        Control0..1
                                        Typestring
                                        XML FormatIn the XML format, this property is represented as an attribute.
                                        118. Observation.interpretation:oBDS.extension
                                        Definition

                                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                        ShortAdditional content defined by implementations
                                        Comments

                                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                        Control0..*
                                        This element is affected by the following invariants: ele-1
                                        TypeExtension
                                        Alternate Namesextensions, user content
                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                        SlicingThis element introduces a set of slices on Observation.interpretation.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                        • value @ url
                                        • 120. Observation.interpretation:oBDS.coding
                                          Definition

                                          Genetische Variante Ausprägung gemäß 23.1 oBDS 2021

                                          ShortGenetische Variante Ausprägung
                                          Comments

                                          Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.

                                          Control0..*
                                          This element is affected by the following invariants: ele-1
                                          TypeCoding
                                          Summarytrue
                                          Requirements

                                          Allows for alternative encodings within a code system, and translations to other code systems.

                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                          122. Observation.interpretation:oBDS.coding.id
                                          Definition

                                          Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                          ShortUnique id for inter-element referencing
                                          Control0..1
                                          Typestring
                                          XML FormatIn the XML format, this property is represented as an attribute.
                                          124. Observation.interpretation:oBDS.coding.extension
                                          Definition

                                          May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                          ShortAdditional content defined by implementations
                                          Comments

                                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                          Control0..*
                                          This element is affected by the following invariants: ele-1
                                          TypeExtension
                                          Alternate Namesextensions, user content
                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                          SlicingThis element introduces a set of slices on Observation.interpretation.coding.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                          • value @ url
                                          • 126. Observation.interpretation:oBDS.coding.system
                                            Definition

                                            The identification of the code system that defines the meaning of the symbol in the code.

                                            ShortIdentity of the terminology system
                                            Comments

                                            The URI may be an OID (urn:oid:...) or a UUID (urn:uuid:...). OIDs and UUIDs SHALL be references to the HL7 OID registry. Otherwise, the URI should come from HL7's list of FHIR defined special URIs or it should reference to some definition that establishes the system clearly and unambiguously.

                                            Control0..1
                                            This element is affected by the following invariants: ele-1
                                            Typeuri
                                            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                            Must Supporttrue
                                            Summarytrue
                                            Requirements

                                            Need to be unambiguous about the source of the definition of the symbol.

                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                            128. Observation.interpretation:oBDS.coding.version
                                            Definition

                                            The version of the code system which was used when choosing this code. Note that a well-maintained code system does not need the version reported, because the meaning of codes is consistent across versions. However this cannot consistently be assured, and when the meaning is not guaranteed to be consistent, the version SHOULD be exchanged.

                                            ShortVersion of the system - if relevant
                                            Comments

                                            Where the terminology does not clearly define what string should be used to identify code system versions, the recommendation is to use the date (expressed in FHIR date format) on which that version was officially published as the version date.

                                            NoteThis is a business version Id, not a resource version Id (see discussion)
                                            Control0..1
                                            This element is affected by the following invariants: ele-1
                                            Typestring
                                            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                            Summarytrue
                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                            130. Observation.interpretation:oBDS.coding.code
                                            Definition

                                            A symbol in syntax defined by the system. The symbol may be a predefined code or an expression in a syntax defined by the coding system (e.g. post-coordination).

                                            ShortSymbol in syntax defined by the system
                                            Comments

                                            Note that FHIR strings SHALL NOT exceed 1MB in size

                                            Control0..1
                                            This element is affected by the following invariants: ele-1
                                            Typecode
                                            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                            Must Supporttrue
                                            Summarytrue
                                            Requirements

                                            Need to refer to a particular code in the system.

                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                            132. Observation.interpretation:oBDS.coding.display
                                            Definition

                                            A representation of the meaning of the code in the system, following the rules of the system.

                                            ShortRepresentation defined by the system
                                            Comments

                                            Note that FHIR strings SHALL NOT exceed 1MB in size

                                            Control0..1
                                            This element is affected by the following invariants: ele-1
                                            Typestring
                                            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                            Summarytrue
                                            Requirements

                                            Need to be able to carry a human-readable meaning of the code for readers that do not know the system.

                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                            134. Observation.interpretation:oBDS.coding.userSelected
                                            Definition

                                            Indicates that this coding was chosen by a user directly - e.g. off a pick list of available items (codes or displays).

                                            ShortIf this coding was chosen directly by the user
                                            Comments

                                            Amongst a set of alternatives, a directly chosen code is the most appropriate starting point for new translations. There is some ambiguity about what exactly 'directly chosen' implies, and trading partner agreement may be needed to clarify the use of this element and its consequences more completely.

                                            Control0..1
                                            This element is affected by the following invariants: ele-1
                                            Typeboolean
                                            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                            Summarytrue
                                            Requirements

                                            This has been identified as a clinical safety criterium - that this exact system/code pair was chosen explicitly, rather than inferred by the system based on some rules or language processing.

                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                            136. Observation.interpretation:oBDS.text
                                            Definition

                                            A human language representation of the concept as seen/selected/uttered by the user who entered the data and/or which represents the intended meaning of the user.

                                            ShortPlain text representation of the concept
                                            Comments

                                            Very often the text is the same as a displayName of one of the codings.

                                            Control0..1
                                            This element is affected by the following invariants: ele-1
                                            Typestring
                                            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                            Summarytrue
                                            Requirements

                                            The codes from the terminologies do not always capture the correct meaning with all the nuances of the human using them, or sometimes there is no appropriate code at all. In these cases, the text is used to capture the full meaning of the source.

                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                            138. Observation.note
                                            Definition

                                            A text note which also contains information about who made the statement and when.

                                            ShortComments about the Observation that also contain a coded type
                                            Comments

                                            May include general statements about the observation, or statements about significant, unexpected or unreliable results values, or information about its source when relevant to its interpretation. The CodedAnnotation data type, while not allowing for or intending to make the content computable, does allow the author to indicate the type of note. This does not replace the use of interpretation, value, or component values. One important note is that Annotation is a FHIR data type, this is NOT about annotations in the genomic context.

                                            Control0..*
                                            This element is affected by the following invariants: ele-1
                                            TypeAnnotation(Coded Annotation)
                                            Must Supporttrue
                                            Requirements

                                            Need to be able to provide free text additional information. Notes SHALL NOT contain information which can be captured in a structured way.

                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                            140. Observation.note.id
                                            Definition

                                            Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                            ShortUnique id for inter-element referencing
                                            Control0..1
                                            Typestring
                                            XML FormatIn the XML format, this property is represented as an attribute.
                                            142. Observation.note.extension
                                            Definition

                                            May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                            ShortAdditional content defined by implementations
                                            Comments

                                            There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                            Control0..*
                                            This element is affected by the following invariants: ele-1
                                            TypeExtension
                                            Alternate Namesextensions, user content
                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                            ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                            SlicingThis element introduces a set of slices on Observation.note.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                            • value @ url
                                            • 144. Observation.note.extension:code
                                              Slice Namecode
                                              Definition

                                              Codifies the content of an Annotation

                                              ShortAnnotation Code
                                              Comments

                                              There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                              Control0..1
                                              This element is affected by the following invariants: ele-1
                                              TypeExtension(Annotation Code) (Extension Type: CodeableConcept)
                                              Alternate Namesextensions, user content
                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                              ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                              146. Observation.note.author[x]
                                              Definition

                                              The individual responsible for making the annotation.

                                              ShortIndividual responsible for the annotation
                                              Comments

                                              Organization is used when there's no need for specific attribution as to who made the comment.

                                              Control0..1
                                              This element is affected by the following invariants: ele-1
                                              TypeChoice of: Reference(Practitioner, Patient, RelatedPerson, Organization), string
                                              [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                              Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                              Summarytrue
                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                              148. Observation.note.time
                                              Definition

                                              Indicates when this particular annotation was made.

                                              ShortWhen the annotation was made
                                              Control0..1
                                              This element is affected by the following invariants: ele-1
                                              TypedateTime
                                              Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                              Summarytrue
                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                              150. Observation.note.text
                                              Definition

                                              Genetische Variante Name gemäß 23.1 oBDS 2021

                                              ShortGenetische Variante Name
                                              Comments

                                              Systems are not required to have markdown support, so the text should be readable without markdown processing. The markdown syntax is GFM - see https://github.github.com/gfm/

                                              Control1..1
                                              This element is affected by the following invariants: ele-1
                                              Typemarkdown
                                              Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                              Must Supporttrue
                                              Summarytrue
                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                              152. Observation.bodySite
                                              Definition

                                              Indicates the site on the subject's body where the observation was made (i.e. the target site).

                                              ShortObserved body part
                                              Comments

                                              Only used if not implicit in code found in Observation.code. In many systems, this may be represented as a related observation instead of an inline component.

                                              If the use case requires BodySite to be handled as a separate resource (e.g. to identify and track separately) then use the standard extension bodySite.

                                              Control0..1
                                              This element is affected by the following invariants: ele-1
                                              BindingFor example codes, see SNOMEDCTBodyStructures
                                              (example to http://hl7.org/fhir/ValueSet/body-site)

                                              Codes describing anatomical locations. May include laterality.

                                              TypeCodeableConcept
                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                              154. Observation.method
                                              Definition

                                              Die verwendete Untersuchungsmethode

                                              ShortMethode
                                              Comments

                                              Only used if not implicit in code for Observation.code.

                                              Control0..1
                                              This element is affected by the following invariants: ele-1
                                              BindingUnless not suitable, these codes SHALL be taken from LOINC Answer List LL4048-6
                                              (extensible to http://loinc.org/vs/LL4048-6)

                                              Methods for simple observations.

                                              TypeCodeableConcept
                                              Must Supporttrue
                                              Requirements

                                              In some cases, method can impact results and is thus used for determining whether results can be compared or determining significance of results.

                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                              156. Observation.specimen
                                              Definition

                                              Referenz auf die Tumorprobe (Specimen), aus der die genetische Variante bestimmt wurde. Optional, da die Methodik auch über GenomicStudy abgebildet werden kann.

                                              ShortTumorprobe
                                              Comments

                                              Should only be used if not implicit in code found in Observation.code. Observations are not made on specimens themselves; they are made on a subject, but in many cases by the means of a specimen. Note that although specimens are often involved, they are not always tracked and reported explicitly. Also note that observation resources may be used in contexts that track the specimen explicitly (e.g. Diagnostic Report).

                                              Control0..1
                                              This element is affected by the following invariants: ele-1
                                              TypeReference(MII PR Onkologie Specimen)
                                              Must Supporttrue
                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                              ref-1: SHALL have a contained resource if a local reference is provided (reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids')))
                                              158. Observation.device
                                              Definition

                                              Das verwendete Analysegerät

                                              ShortGerät
                                              Comments

                                              Note that this is not meant to represent a device involved in the transmission of the result, e.g., a gateway. Such devices may be documented using the Provenance resource where relevant.

                                              Control0..1
                                              This element is affected by the following invariants: ele-1
                                              TypeReference(Device, DeviceMetric)
                                              Must Supporttrue
                                              Must Support TypesNo must-support rules about the choice of types/profiles
                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                              ref-1: SHALL have a contained resource if a local reference is provided (reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids')))
                                              160. Observation.referenceRange
                                              Definition

                                              Guidance on how to interpret the value by comparison to a normal or recommended range. Multiple reference ranges are interpreted as an "OR". In other words, to represent two distinct target populations, two referenceRange elements would be used.

                                              ShortProvides guide for interpretation
                                              Comments

                                              Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                              Control0..*
                                              This element is affected by the following invariants: ele-1
                                              TypeBackboneElement
                                              Requirements

                                              Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                              obs-3: Must have at least a low or a high or text (low.exists() or high.exists() or text.exists())
                                              162. Observation.referenceRange.id
                                              Definition

                                              Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                              ShortUnique id for inter-element referencing
                                              Control0..1
                                              Typestring
                                              XML FormatIn the XML format, this property is represented as an attribute.
                                              164. Observation.referenceRange.extension
                                              Definition

                                              May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                              ShortAdditional content defined by implementations
                                              Comments

                                              There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                              Control0..*
                                              This element is affected by the following invariants: ele-1
                                              TypeExtension
                                              Alternate Namesextensions, user content
                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                              ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                              SlicingThis element introduces a set of slices on Observation.referenceRange.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                              • value @ url
                                              • 166. Observation.referenceRange.modifierExtension
                                                Definition

                                                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                ShortExtensions that cannot be ignored even if unrecognized
                                                Comments

                                                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                Control0..*
                                                This element is affected by the following invariants: ele-1
                                                TypeExtension
                                                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                Summarytrue
                                                Requirements

                                                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                Alternate Namesextensions, user content, modifiers
                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                168. Observation.referenceRange.low
                                                Definition

                                                The value of the low bound of the reference range. The low bound of the reference range endpoint is inclusive of the value (e.g. reference range is >=5 - <=9). If the low bound is omitted, it is assumed to be meaningless (e.g. reference range is <=2.3).

                                                ShortLow Range, if relevant
                                                Comments

                                                The context of use may frequently define what kind of quantity this is and therefore what kind of units can be used. The context of use may also restrict the values for the comparator.

                                                Control0..1
                                                This element is affected by the following invariants: ele-1, obs-3
                                                TypeQuantity(SimpleQuantity)
                                                Is Modifierfalse
                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                qty-3: If a code for the unit is present, the system SHALL also be present (code.empty() or system.exists())
                                                sqty-1: The comparator is not used on a SimpleQuantity (comparator.empty())
                                                170. Observation.referenceRange.high
                                                Definition

                                                The value of the high bound of the reference range. The high bound of the reference range endpoint is inclusive of the value (e.g. reference range is >=5 - <=9). If the high bound is omitted, it is assumed to be meaningless (e.g. reference range is >= 2.3).

                                                ShortHigh Range, if relevant
                                                Comments

                                                The context of use may frequently define what kind of quantity this is and therefore what kind of units can be used. The context of use may also restrict the values for the comparator.

                                                Control0..1
                                                This element is affected by the following invariants: ele-1, obs-3
                                                TypeQuantity(SimpleQuantity)
                                                Is Modifierfalse
                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                qty-3: If a code for the unit is present, the system SHALL also be present (code.empty() or system.exists())
                                                sqty-1: The comparator is not used on a SimpleQuantity (comparator.empty())
                                                172. Observation.referenceRange.type
                                                Definition

                                                Codes to indicate the what part of the targeted reference population it applies to. For example, the normal or therapeutic range.

                                                ShortReference range qualifier
                                                Comments

                                                This SHOULD be populated if there is more than one range. If this element is not present then the normal range is assumed.

                                                Control0..1
                                                This element is affected by the following invariants: ele-1
                                                BindingThe codes SHOULD be taken from ObservationReferenceRangeMeaningCodes
                                                (preferred to http://hl7.org/fhir/ValueSet/referencerange-meaning)

                                                Code for the meaning of a reference range.

                                                TypeCodeableConcept
                                                Requirements

                                                Need to be able to say what kind of reference range this is - normal, recommended, therapeutic, etc., - for proper interpretation.

                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                174. Observation.referenceRange.appliesTo
                                                Definition

                                                Codes to indicate the target population this reference range applies to. For example, a reference range may be based on the normal population or a particular sex or race. Multiple appliesTo are interpreted as an "AND" of the target populations. For example, to represent a target population of African American females, both a code of female and a code for African American would be used.

                                                ShortReference range population
                                                Comments

                                                This SHOULD be populated if there is more than one range. If this element is not present then the normal population is assumed.

                                                Control0..*
                                                This element is affected by the following invariants: ele-1
                                                BindingFor example codes, see ObservationReferenceRangeAppliesToCodes
                                                (example to http://hl7.org/fhir/ValueSet/referencerange-appliesto)

                                                Codes identifying the population the reference range applies to.

                                                TypeCodeableConcept
                                                Requirements

                                                Need to be able to identify the target population for proper interpretation.

                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                176. Observation.referenceRange.age
                                                Definition

                                                The age at which this reference range is applicable. This is a neonatal age (e.g. number of weeks at term) if the meaning says so.

                                                ShortApplicable age range, if relevant
                                                Comments

                                                The stated low and high value are assumed to have arbitrarily high precision when it comes to determining which values are in the range. I.e. 1.99 is not in the range 2 -> 3.

                                                Control0..1
                                                This element is affected by the following invariants: ele-1
                                                TypeRange
                                                Requirements

                                                Some analytes vary greatly over age.

                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                rng-2: If present, low SHALL have a lower value than high (low.empty() or high.empty() or (low <= high))
                                                178. Observation.referenceRange.text
                                                Definition

                                                Text based reference range in an observation which may be used when a quantitative range is not appropriate for an observation. An example would be a reference value of "Negative" or a list or table of "normals".

                                                ShortText based reference range in an observation
                                                Comments

                                                Note that FHIR strings SHALL NOT exceed 1MB in size

                                                Control0..1
                                                This element is affected by the following invariants: ele-1
                                                Typestring
                                                Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                180. Observation.hasMember
                                                Definition

                                                This observation is a group observation (e.g. a battery, a panel of tests, a set of vital sign measurements) that includes the target as a member of the group.

                                                ShortRelated resource that belongs to the Observation group
                                                Comments

                                                When using this element, an observation will typically have either a value or a set of related resources, although both may be present in some cases. For a discussion on the ways Observations can assembled in groups together, see Notes below. Note that a system may calculate results from QuestionnaireResponse into a final score and represent the score as an Observation.

                                                Control0..*
                                                This element is affected by the following invariants: ele-1
                                                TypeReference(Observation, QuestionnaireResponse, MolecularSequence)
                                                Summarytrue
                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                ref-1: SHALL have a contained resource if a local reference is provided (reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids')))
                                                182. Observation.derivedFrom
                                                Definition

                                                The target resource that represents a measurement from which this observation value is derived. For example, a calculated anion gap or a fetal measurement based on an ultrasound image.

                                                ShortRelated measurements the observation is made from
                                                Comments

                                                All the reference choices that are listed in this element can represent clinical observations and other measurements that may be the source for a derived value. The most common reference will be another Observation. For a discussion on the ways Observations can assembled in groups together, see Notes below.

                                                Control0..*
                                                This element is affected by the following invariants: ele-1
                                                TypeReference(DocumentReference, ImagingStudy, Media, QuestionnaireResponse, Observation, MolecularSequence)
                                                Summarytrue
                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                ref-1: SHALL have a contained resource if a local reference is provided (reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids')))
                                                SlicingThis element introduces a set of slices on Observation.derivedFrom. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                • profile @ resolve()
                                                • 184. Observation.component
                                                  Definition

                                                  Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

                                                  ShortComponent results
                                                  Comments

                                                  For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                  Control0..*
                                                  This element is affected by the following invariants: ele-1
                                                  TypeBackboneElement
                                                  Summarytrue
                                                  Requirements

                                                  Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                  SlicingThis element introduces a set of slices on Observation.component. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                  • value @ code
                                                  • 186. Observation.component.id
                                                    Definition

                                                    Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                    ShortUnique id for inter-element referencing
                                                    Control0..1
                                                    Typestring
                                                    XML FormatIn the XML format, this property is represented as an attribute.
                                                    188. Observation.component.extension
                                                    Definition

                                                    May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                    ShortAdditional content defined by implementations
                                                    Comments

                                                    There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                    Control0..*
                                                    This element is affected by the following invariants: ele-1
                                                    TypeExtension
                                                    Alternate Namesextensions, user content
                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                    ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                    SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                    • value @ url
                                                    • 190. Observation.component.modifierExtension
                                                      Definition

                                                      May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                      Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                      ShortExtensions that cannot be ignored even if unrecognized
                                                      Comments

                                                      There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                      Control0..*
                                                      This element is affected by the following invariants: ele-1
                                                      TypeExtension
                                                      Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                      Summarytrue
                                                      Requirements

                                                      Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                      Alternate Namesextensions, user content, modifiers
                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                      192. Observation.component.code
                                                      Definition

                                                      Describes what was observed. Sometimes this is called the observation "code".

                                                      ShortType of component observation (code / type)
                                                      Comments

                                                      All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                      Control1..1
                                                      This element is affected by the following invariants: ele-1
                                                      BindingFor example codes, see LOINCCodes
                                                      (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                      Codes identifying names of simple observations.

                                                      TypeCodeableConcept
                                                      Summarytrue
                                                      Requirements

                                                      Knowing what kind of observation is being made is essential to understanding the observation.

                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                      194. Observation.component.value[x]
                                                      Definition

                                                      The information determined as a result of making the observation, if the information has a simple value.

                                                      ShortActual component result
                                                      Comments

                                                      Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                      Control0..1
                                                      This element is affected by the following invariants: ele-1
                                                      TypeChoice of: Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period
                                                      [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                      Summarytrue
                                                      Requirements

                                                      An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                      196. Observation.component.dataAbsentReason
                                                      Definition

                                                      Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                      ShortWhy the component result is missing
                                                      Comments

                                                      "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                      The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                      Control0..1
                                                      This element is affected by the following invariants: ele-1, obs-6
                                                      BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                      (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                      Codes specifying why the result (Observation.value[x]) is missing.

                                                      TypeCodeableConcept
                                                      Requirements

                                                      For many results it is necessary to handle exceptional values in measurements.

                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                      198. Observation.component.interpretation
                                                      Definition

                                                      A categorical assessment of an observation value. For example, high, low, normal.

                                                      ShortHigh, low, normal, etc.
                                                      Comments

                                                      Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                      Control0..*
                                                      This element is affected by the following invariants: ele-1
                                                      BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                      (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                      Codes identifying interpretations of observations.

                                                      TypeCodeableConcept
                                                      Requirements

                                                      For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                      Alternate NamesAbnormal Flag
                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                      200. Observation.component.referenceRange
                                                      Definition

                                                      Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                      ShortProvides guide for interpretation of component result
                                                      Comments

                                                      Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                      Control0..*
                                                      TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                      Requirements

                                                      Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                      202. Observation.component:conclusion-string
                                                      Slice Nameconclusion-string
                                                      Definition

                                                      Textuelle Zusammenfassung oder Schlussfolgerung zur Variante

                                                      ShortSchlussfolgerung - Text
                                                      Comments

                                                      An example would be the interpretative information, typically canned, about a variant identified in the patient.

                                                      Control0..1
                                                      This element is affected by the following invariants: ele-1
                                                      TypeBackboneElement
                                                      Must Supporttrue
                                                      Summarytrue
                                                      Requirements

                                                      Need to be able to provide a conclusion that is not lost among the basic result data.

                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                      204. Observation.component:conclusion-string.id
                                                      Definition

                                                      Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                      ShortUnique id for inter-element referencing
                                                      Control0..1
                                                      Typestring
                                                      XML FormatIn the XML format, this property is represented as an attribute.
                                                      206. Observation.component:conclusion-string.extension
                                                      Definition

                                                      May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                      ShortAdditional content defined by implementations
                                                      Comments

                                                      There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                      Control0..*
                                                      This element is affected by the following invariants: ele-1
                                                      TypeExtension
                                                      Alternate Namesextensions, user content
                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                      SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                      • value @ url
                                                      • 208. Observation.component:conclusion-string.modifierExtension
                                                        Definition

                                                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                        ShortExtensions that cannot be ignored even if unrecognized
                                                        Comments

                                                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                        Control0..*
                                                        This element is affected by the following invariants: ele-1
                                                        TypeExtension
                                                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                        Summarytrue
                                                        Requirements

                                                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                        Alternate Namesextensions, user content, modifiers
                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                        210. Observation.component:conclusion-string.code
                                                        Definition

                                                        Describes what was observed. Sometimes this is called the observation "code".

                                                        Shortconclusion-string
                                                        Comments

                                                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                        Control1..1
                                                        This element is affected by the following invariants: ele-1
                                                        BindingFor example codes, see LOINCCodes
                                                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                        Codes identifying names of simple observations.

                                                        TypeCodeableConcept
                                                        Summarytrue
                                                        Requirements

                                                        Knowing what kind of observation is being made is essential to understanding the observation.

                                                        Pattern Value{
                                                          "coding" : [{
                                                            "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                                                            "code" : "conclusion-string"
                                                          }]
                                                        }
                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                        212. Observation.component:conclusion-string.value[x]
                                                        Definition

                                                        The information determined as a result of making the observation, if the information has a simple value.

                                                        ShortSummary conclusion (interpretation/impression)
                                                        Comments

                                                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                        Control0..1
                                                        This element is affected by the following invariants: ele-1
                                                        Typestring
                                                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                        Summarytrue
                                                        Requirements

                                                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                        214. Observation.component:conclusion-string.dataAbsentReason
                                                        Definition

                                                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                        ShortWhy the component result is missing
                                                        Comments

                                                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                        Control0..1
                                                        This element is affected by the following invariants: ele-1, obs-6
                                                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                        Codes specifying why the result (Observation.value[x]) is missing.

                                                        TypeCodeableConcept
                                                        Requirements

                                                        For many results it is necessary to handle exceptional values in measurements.

                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                        216. Observation.component:conclusion-string.interpretation
                                                        Definition

                                                        A categorical assessment of an observation value. For example, high, low, normal.

                                                        ShortHigh, low, normal, etc.
                                                        Comments

                                                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                        Control0..*
                                                        This element is affected by the following invariants: ele-1
                                                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                        Codes identifying interpretations of observations.

                                                        TypeCodeableConcept
                                                        Requirements

                                                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                        Alternate NamesAbnormal Flag
                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                        218. Observation.component:conclusion-string.referenceRange
                                                        Definition

                                                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                        ShortProvides guide for interpretation of component result
                                                        Comments

                                                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                        Control0..*
                                                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                        Requirements

                                                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                        220. Observation.component:gene-studied
                                                        Slice Namegene-studied
                                                        Definition

                                                        Das untersuchte Gen identifiziert durch HGNC-ID

                                                        ShortUntersuchtes Gen (BRCA1/BRCA2/PALB2)
                                                        Comments

                                                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                        Control0..*
                                                        This element is affected by the following invariants: ele-1
                                                        TypeBackboneElement
                                                        Must Supporttrue
                                                        Summarytrue
                                                        Requirements

                                                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                        222. Observation.component:gene-studied.id
                                                        Definition

                                                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                        ShortUnique id for inter-element referencing
                                                        Control0..1
                                                        Typestring
                                                        XML FormatIn the XML format, this property is represented as an attribute.
                                                        224. Observation.component:gene-studied.extension
                                                        Definition

                                                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                        ShortAdditional content defined by implementations
                                                        Comments

                                                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                        Control0..*
                                                        This element is affected by the following invariants: ele-1
                                                        TypeExtension
                                                        Alternate Namesextensions, user content
                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                        SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                        • value @ url
                                                        • 226. Observation.component:gene-studied.modifierExtension
                                                          Definition

                                                          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                          ShortExtensions that cannot be ignored even if unrecognized
                                                          Comments

                                                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                          Control0..*
                                                          This element is affected by the following invariants: ele-1
                                                          TypeExtension
                                                          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                          Summarytrue
                                                          Requirements

                                                          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                          Alternate Namesextensions, user content, modifiers
                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                          228. Observation.component:gene-studied.code
                                                          Definition

                                                          Describes what was observed. Sometimes this is called the observation "code".

                                                          Short48018-6
                                                          Comments

                                                          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                          Control1..1
                                                          This element is affected by the following invariants: ele-1
                                                          BindingFor example codes, see LOINCCodes
                                                          (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                          Codes identifying names of simple observations.

                                                          TypeCodeableConcept
                                                          Summarytrue
                                                          Requirements

                                                          Knowing what kind of observation is being made is essential to understanding the observation.

                                                          Pattern Value{
                                                            "coding" : [{
                                                              "system" : "http://loinc.org",
                                                              "code" : "48018-6"
                                                            }]
                                                          }
                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                          230. Observation.component:gene-studied.value[x]
                                                          Definition

                                                          The information determined as a result of making the observation, if the information has a simple value.

                                                          ShortThe HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
                                                          Comments

                                                          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                          Control1..1
                                                          This element is affected by the following invariants: ele-1
                                                          BindingUnless not suitable, these codes SHALL be taken from HUGO Gene Nomenclature Committee Gene Names (HGNC)
                                                          (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs)
                                                          TypeCodeableConcept
                                                          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                          Summarytrue
                                                          Requirements

                                                          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                          232. Observation.component:gene-studied.dataAbsentReason
                                                          Definition

                                                          Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                          ShortWhy the component result is missing
                                                          Comments

                                                          "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                          The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                          Control0..1
                                                          This element is affected by the following invariants: ele-1, obs-6
                                                          BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                          (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                          Codes specifying why the result (Observation.value[x]) is missing.

                                                          TypeCodeableConcept
                                                          Requirements

                                                          For many results it is necessary to handle exceptional values in measurements.

                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                          234. Observation.component:gene-studied.interpretation
                                                          Definition

                                                          A categorical assessment of an observation value. For example, high, low, normal.

                                                          ShortHigh, low, normal, etc.
                                                          Comments

                                                          Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                          Control0..*
                                                          This element is affected by the following invariants: ele-1
                                                          BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                          (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                          Codes identifying interpretations of observations.

                                                          TypeCodeableConcept
                                                          Requirements

                                                          For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                          Alternate NamesAbnormal Flag
                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                          236. Observation.component:gene-studied.referenceRange
                                                          Definition

                                                          Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                          ShortProvides guide for interpretation of component result
                                                          Comments

                                                          Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                          Control0..*
                                                          TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                          Requirements

                                                          Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                          238. Observation.component:cytogenetic-location
                                                          Slice Namecytogenetic-location
                                                          Definition

                                                          Chromosomale Position der Variante in Bandennomenklatur

                                                          ShortZytogenetische Lokalisation
                                                          Comments

                                                          For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                          Control0..*
                                                          This element is affected by the following invariants: ele-1
                                                          TypeBackboneElement
                                                          Must Supporttrue
                                                          Summarytrue
                                                          Requirements

                                                          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                          240. Observation.component:cytogenetic-location.id
                                                          Definition

                                                          Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                          ShortUnique id for inter-element referencing
                                                          Control0..1
                                                          Typestring
                                                          XML FormatIn the XML format, this property is represented as an attribute.
                                                          242. Observation.component:cytogenetic-location.extension
                                                          Definition

                                                          May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                          ShortAdditional content defined by implementations
                                                          Comments

                                                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                          Control0..*
                                                          This element is affected by the following invariants: ele-1
                                                          TypeExtension
                                                          Alternate Namesextensions, user content
                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                          SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                          • value @ url
                                                          • 244. Observation.component:cytogenetic-location.modifierExtension
                                                            Definition

                                                            May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                            Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                            ShortExtensions that cannot be ignored even if unrecognized
                                                            Comments

                                                            There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                            Control0..*
                                                            This element is affected by the following invariants: ele-1
                                                            TypeExtension
                                                            Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                            Summarytrue
                                                            Requirements

                                                            Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                            Alternate Namesextensions, user content, modifiers
                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                            ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                            246. Observation.component:cytogenetic-location.code
                                                            Definition

                                                            Describes what was observed. Sometimes this is called the observation "code".

                                                            Short48001-2
                                                            Comments

                                                            All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                            Control1..1
                                                            This element is affected by the following invariants: ele-1
                                                            BindingFor example codes, see LOINCCodes
                                                            (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                            Codes identifying names of simple observations.

                                                            TypeCodeableConcept
                                                            Summarytrue
                                                            Requirements

                                                            Knowing what kind of observation is being made is essential to understanding the observation.

                                                            Pattern Value{
                                                              "coding" : [{
                                                                "system" : "http://loinc.org",
                                                                "code" : "48001-2"
                                                              }]
                                                            }
                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                            248. Observation.component:cytogenetic-location.value[x]
                                                            Definition

                                                            The information determined as a result of making the observation, if the information has a simple value.

                                                            ShortExample: 1q21.1
                                                            Comments

                                                            Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                            Control1..1
                                                            This element is affected by the following invariants: ele-1
                                                            TypeCodeableConcept
                                                            [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                            Summarytrue
                                                            Requirements

                                                            An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                            250. Observation.component:cytogenetic-location.dataAbsentReason
                                                            Definition

                                                            Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                            ShortWhy the component result is missing
                                                            Comments

                                                            "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                            The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                            Control0..1
                                                            This element is affected by the following invariants: ele-1, obs-6
                                                            BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                            (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                            Codes specifying why the result (Observation.value[x]) is missing.

                                                            TypeCodeableConcept
                                                            Requirements

                                                            For many results it is necessary to handle exceptional values in measurements.

                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                            252. Observation.component:cytogenetic-location.interpretation
                                                            Definition

                                                            A categorical assessment of an observation value. For example, high, low, normal.

                                                            ShortHigh, low, normal, etc.
                                                            Comments

                                                            Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                            Control0..*
                                                            This element is affected by the following invariants: ele-1
                                                            BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                            (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                            Codes identifying interpretations of observations.

                                                            TypeCodeableConcept
                                                            Requirements

                                                            For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                            Alternate NamesAbnormal Flag
                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                            254. Observation.component:cytogenetic-location.referenceRange
                                                            Definition

                                                            Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                            ShortProvides guide for interpretation of component result
                                                            Comments

                                                            Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                            Control0..*
                                                            TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                            Requirements

                                                            Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                            256. Observation.component:reference-sequence-assembly
                                                            Slice Namereference-sequence-assembly
                                                            Definition

                                                            Die verwendete Referenzgenom-Version wie z.B. GRCh37 oder GRCh38

                                                            ShortReferenzgenom-Assembly
                                                            Comments

                                                            For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                            Control0..*
                                                            This element is affected by the following invariants: ele-1
                                                            TypeBackboneElement
                                                            Must Supporttrue
                                                            Summarytrue
                                                            Requirements

                                                            Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                            258. Observation.component:reference-sequence-assembly.id
                                                            Definition

                                                            Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                            ShortUnique id for inter-element referencing
                                                            Control0..1
                                                            Typestring
                                                            XML FormatIn the XML format, this property is represented as an attribute.
                                                            260. Observation.component:reference-sequence-assembly.extension
                                                            Definition

                                                            May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                            ShortAdditional content defined by implementations
                                                            Comments

                                                            There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                            Control0..*
                                                            This element is affected by the following invariants: ele-1
                                                            TypeExtension
                                                            Alternate Namesextensions, user content
                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                            ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                            SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                            • value @ url
                                                            • 262. Observation.component:reference-sequence-assembly.modifierExtension
                                                              Definition

                                                              May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                              Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                              ShortExtensions that cannot be ignored even if unrecognized
                                                              Comments

                                                              There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                              Control0..*
                                                              This element is affected by the following invariants: ele-1
                                                              TypeExtension
                                                              Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                              Summarytrue
                                                              Requirements

                                                              Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                              Alternate Namesextensions, user content, modifiers
                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                              ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                              264. Observation.component:reference-sequence-assembly.code
                                                              Definition

                                                              Describes what was observed. Sometimes this is called the observation "code".

                                                              Short62374-4
                                                              Comments

                                                              All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                              Control1..1
                                                              This element is affected by the following invariants: ele-1
                                                              BindingFor example codes, see LOINCCodes
                                                              (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                              Codes identifying names of simple observations.

                                                              TypeCodeableConcept
                                                              Summarytrue
                                                              Requirements

                                                              Knowing what kind of observation is being made is essential to understanding the observation.

                                                              Pattern Value{
                                                                "coding" : [{
                                                                  "system" : "http://loinc.org",
                                                                  "code" : "62374-4"
                                                                }]
                                                              }
                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                              266. Observation.component:reference-sequence-assembly.value[x]
                                                              Definition

                                                              The information determined as a result of making the observation, if the information has a simple value.

                                                              ShortGRCh37 | GRCh38 | ...
                                                              Comments

                                                              Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                              Control1..1
                                                              This element is affected by the following invariants: ele-1
                                                              BindingUnless not suitable, these codes SHALL be taken from LOINC Answer List LL1040-6
                                                              (extensible to http://loinc.org/vs/LL1040-6)
                                                              TypeCodeableConcept
                                                              [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                              Summarytrue
                                                              Requirements

                                                              An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                              268. Observation.component:reference-sequence-assembly.dataAbsentReason
                                                              Definition

                                                              Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                              ShortWhy the component result is missing
                                                              Comments

                                                              "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                              The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                              Control0..1
                                                              This element is affected by the following invariants: ele-1, obs-6
                                                              BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                              (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                              Codes specifying why the result (Observation.value[x]) is missing.

                                                              TypeCodeableConcept
                                                              Requirements

                                                              For many results it is necessary to handle exceptional values in measurements.

                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                              270. Observation.component:reference-sequence-assembly.interpretation
                                                              Definition

                                                              A categorical assessment of an observation value. For example, high, low, normal.

                                                              ShortHigh, low, normal, etc.
                                                              Comments

                                                              Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                              Control0..*
                                                              This element is affected by the following invariants: ele-1
                                                              BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                              (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                              Codes identifying interpretations of observations.

                                                              TypeCodeableConcept
                                                              Requirements

                                                              For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                              Alternate NamesAbnormal Flag
                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                              272. Observation.component:reference-sequence-assembly.referenceRange
                                                              Definition

                                                              Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                              ShortProvides guide for interpretation of component result
                                                              Comments

                                                              Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                              Control0..*
                                                              TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                              Requirements

                                                              Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                              274. Observation.component:chromosome-identifier
                                                              Slice Namechromosome-identifier
                                                              Definition

                                                              Das betroffene Chromosom

                                                              ShortChromosom
                                                              Comments

                                                              For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                              Control0..*
                                                              This element is affected by the following invariants: ele-1
                                                              TypeBackboneElement
                                                              Must Supporttrue
                                                              Summarytrue
                                                              Requirements

                                                              Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                              276. Observation.component:chromosome-identifier.id
                                                              Definition

                                                              Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                              ShortUnique id for inter-element referencing
                                                              Control0..1
                                                              Typestring
                                                              XML FormatIn the XML format, this property is represented as an attribute.
                                                              278. Observation.component:chromosome-identifier.extension
                                                              Definition

                                                              May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                              ShortAdditional content defined by implementations
                                                              Comments

                                                              There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                              Control0..*
                                                              This element is affected by the following invariants: ele-1
                                                              TypeExtension
                                                              Alternate Namesextensions, user content
                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                              ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                              SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                              • value @ url
                                                              • 280. Observation.component:chromosome-identifier.modifierExtension
                                                                Definition

                                                                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                ShortExtensions that cannot be ignored even if unrecognized
                                                                Comments

                                                                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                Control0..*
                                                                This element is affected by the following invariants: ele-1
                                                                TypeExtension
                                                                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                Summarytrue
                                                                Requirements

                                                                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                Alternate Namesextensions, user content, modifiers
                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                282. Observation.component:chromosome-identifier.code
                                                                Definition

                                                                Describes what was observed. Sometimes this is called the observation "code".

                                                                Short48000-4
                                                                Comments

                                                                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                Control1..1
                                                                This element is affected by the following invariants: ele-1
                                                                BindingFor example codes, see LOINCCodes
                                                                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                Codes identifying names of simple observations.

                                                                TypeCodeableConcept
                                                                Summarytrue
                                                                Requirements

                                                                Knowing what kind of observation is being made is essential to understanding the observation.

                                                                Pattern Value{
                                                                  "coding" : [{
                                                                    "system" : "http://loinc.org",
                                                                    "code" : "48000-4"
                                                                  }]
                                                                }
                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                284. Observation.component:chromosome-identifier.value[x]
                                                                Definition

                                                                The information determined as a result of making the observation, if the information has a simple value.

                                                                ShortChromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y
                                                                Comments

                                                                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                Control1..1
                                                                This element is affected by the following invariants: ele-1
                                                                BindingThe codes SHALL be taken from LOINC Answer List LL2938-0
                                                                (required to http://loinc.org/vs/LL2938-0)
                                                                TypeCodeableConcept
                                                                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                Summarytrue
                                                                Requirements

                                                                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                286. Observation.component:chromosome-identifier.dataAbsentReason
                                                                Definition

                                                                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                ShortWhy the component result is missing
                                                                Comments

                                                                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                Control0..1
                                                                This element is affected by the following invariants: ele-1, obs-6
                                                                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                Codes specifying why the result (Observation.value[x]) is missing.

                                                                TypeCodeableConcept
                                                                Requirements

                                                                For many results it is necessary to handle exceptional values in measurements.

                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                288. Observation.component:chromosome-identifier.interpretation
                                                                Definition

                                                                A categorical assessment of an observation value. For example, high, low, normal.

                                                                ShortHigh, low, normal, etc.
                                                                Comments

                                                                Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                Control0..*
                                                                This element is affected by the following invariants: ele-1
                                                                BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                Codes identifying interpretations of observations.

                                                                TypeCodeableConcept
                                                                Requirements

                                                                For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                Alternate NamesAbnormal Flag
                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                290. Observation.component:chromosome-identifier.referenceRange
                                                                Definition

                                                                Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                ShortProvides guide for interpretation of component result
                                                                Comments

                                                                Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                Control0..*
                                                                TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                Requirements

                                                                Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                292. Observation.component:representative-coding-hgvs
                                                                Slice Namerepresentative-coding-hgvs
                                                                Definition

                                                                Die cDNA-Änderung in HGVS-Nomenklatur auf Transkriptebene

                                                                ShortDNA-Änderung c.HGVS
                                                                Comments

                                                                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                Control0..1
                                                                This element is affected by the following invariants: ele-1
                                                                TypeBackboneElement
                                                                Must Supporttrue
                                                                Summarytrue
                                                                Requirements

                                                                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                294. Observation.component:representative-coding-hgvs.id
                                                                Definition

                                                                Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                ShortUnique id for inter-element referencing
                                                                Control0..1
                                                                Typestring
                                                                XML FormatIn the XML format, this property is represented as an attribute.
                                                                296. Observation.component:representative-coding-hgvs.extension
                                                                Definition

                                                                May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                ShortAdditional content defined by implementations
                                                                Comments

                                                                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                Control0..*
                                                                This element is affected by the following invariants: ele-1
                                                                TypeExtension
                                                                Alternate Namesextensions, user content
                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                • value @ url
                                                                • 298. Observation.component:representative-coding-hgvs.modifierExtension
                                                                  Definition

                                                                  May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                  Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                  ShortExtensions that cannot be ignored even if unrecognized
                                                                  Comments

                                                                  There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                  Control0..*
                                                                  This element is affected by the following invariants: ele-1
                                                                  TypeExtension
                                                                  Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                  Summarytrue
                                                                  Requirements

                                                                  Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                  Alternate Namesextensions, user content, modifiers
                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                  ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                  300. Observation.component:representative-coding-hgvs.code
                                                                  Definition

                                                                  Describes what was observed. Sometimes this is called the observation "code".

                                                                  Short48004-6
                                                                  Comments

                                                                  All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                  Control1..1
                                                                  This element is affected by the following invariants: ele-1
                                                                  BindingFor example codes, see LOINCCodes
                                                                  (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                  Codes identifying names of simple observations.

                                                                  TypeCodeableConcept
                                                                  Summarytrue
                                                                  Requirements

                                                                  Knowing what kind of observation is being made is essential to understanding the observation.

                                                                  Pattern Value{
                                                                    "coding" : [{
                                                                      "system" : "http://loinc.org",
                                                                      "code" : "48004-6"
                                                                    }]
                                                                  }
                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                  302. Observation.component:representative-coding-hgvs.value[x]
                                                                  Definition

                                                                  The information determined as a result of making the observation, if the information has a simple value.

                                                                  ShortA valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T.
                                                                  Comments

                                                                  Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                  Control1..1
                                                                  This element is affected by the following invariants: ele-1
                                                                  BindingThe codes SHALL be taken from Human Genome Variation Society (HGVS) Nomenclature
                                                                  (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs)
                                                                  TypeCodeableConcept
                                                                  [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                  Summarytrue
                                                                  Requirements

                                                                  An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                  304. Observation.component:representative-coding-hgvs.dataAbsentReason
                                                                  Definition

                                                                  Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                  ShortWhy the component result is missing
                                                                  Comments

                                                                  "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                  The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                  Control0..1
                                                                  This element is affected by the following invariants: ele-1, obs-6
                                                                  BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                  (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                  Codes specifying why the result (Observation.value[x]) is missing.

                                                                  TypeCodeableConcept
                                                                  Requirements

                                                                  For many results it is necessary to handle exceptional values in measurements.

                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                  306. Observation.component:representative-coding-hgvs.interpretation
                                                                  Definition

                                                                  A categorical assessment of an observation value. For example, high, low, normal.

                                                                  ShortHigh, low, normal, etc.
                                                                  Comments

                                                                  Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                  Control0..*
                                                                  This element is affected by the following invariants: ele-1
                                                                  BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                  (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                  Codes identifying interpretations of observations.

                                                                  TypeCodeableConcept
                                                                  Requirements

                                                                  For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                  Alternate NamesAbnormal Flag
                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                  308. Observation.component:representative-coding-hgvs.referenceRange
                                                                  Definition

                                                                  Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                  ShortProvides guide for interpretation of component result
                                                                  Comments

                                                                  Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                  Control0..*
                                                                  TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                  Requirements

                                                                  Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                  310. Observation.component:genomic-hgvs
                                                                  Slice Namegenomic-hgvs
                                                                  Definition

                                                                  Die genomische DNA-Änderung in HGVS-Nomenklatur

                                                                  ShortGenomische DNA-Änderung g.HGVS
                                                                  Comments

                                                                  For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                  Control0..1
                                                                  This element is affected by the following invariants: ele-1
                                                                  TypeBackboneElement
                                                                  Must Supporttrue
                                                                  Summarytrue
                                                                  Requirements

                                                                  Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                  312. Observation.component:genomic-hgvs.id
                                                                  Definition

                                                                  Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                  ShortUnique id for inter-element referencing
                                                                  Control0..1
                                                                  Typestring
                                                                  XML FormatIn the XML format, this property is represented as an attribute.
                                                                  314. Observation.component:genomic-hgvs.extension
                                                                  Definition

                                                                  May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                  ShortAdditional content defined by implementations
                                                                  Comments

                                                                  There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                  Control0..*
                                                                  This element is affected by the following invariants: ele-1
                                                                  TypeExtension
                                                                  Alternate Namesextensions, user content
                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                  ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                  SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                  • value @ url
                                                                  • 316. Observation.component:genomic-hgvs.modifierExtension
                                                                    Definition

                                                                    May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                    Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                    ShortExtensions that cannot be ignored even if unrecognized
                                                                    Comments

                                                                    There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                    Control0..*
                                                                    This element is affected by the following invariants: ele-1
                                                                    TypeExtension
                                                                    Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                    Summarytrue
                                                                    Requirements

                                                                    Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                    Alternate Namesextensions, user content, modifiers
                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                    ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                    318. Observation.component:genomic-hgvs.code
                                                                    Definition

                                                                    Describes what was observed. Sometimes this is called the observation "code".

                                                                    Short81290-9
                                                                    Comments

                                                                    All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                    Control1..1
                                                                    This element is affected by the following invariants: ele-1
                                                                    BindingFor example codes, see LOINCCodes
                                                                    (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                    Codes identifying names of simple observations.

                                                                    TypeCodeableConcept
                                                                    Summarytrue
                                                                    Requirements

                                                                    Knowing what kind of observation is being made is essential to understanding the observation.

                                                                    Pattern Value{
                                                                      "coding" : [{
                                                                        "system" : "http://loinc.org",
                                                                        "code" : "81290-9"
                                                                      }]
                                                                    }
                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                    320. Observation.component:genomic-hgvs.value[x]
                                                                    Definition

                                                                    The information determined as a result of making the observation, if the information has a simple value.

                                                                    ShortA valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup
                                                                    Comments

                                                                    Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                    Control1..1
                                                                    This element is affected by the following invariants: ele-1
                                                                    BindingThe codes SHALL be taken from Human Genome Variation Society (HGVS) Nomenclature
                                                                    (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs)
                                                                    TypeCodeableConcept
                                                                    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                    Summarytrue
                                                                    Requirements

                                                                    An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                    322. Observation.component:genomic-hgvs.dataAbsentReason
                                                                    Definition

                                                                    Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                    ShortWhy the component result is missing
                                                                    Comments

                                                                    "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                    The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                    Control0..1
                                                                    This element is affected by the following invariants: ele-1, obs-6
                                                                    BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                    (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                    Codes specifying why the result (Observation.value[x]) is missing.

                                                                    TypeCodeableConcept
                                                                    Requirements

                                                                    For many results it is necessary to handle exceptional values in measurements.

                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                    324. Observation.component:genomic-hgvs.interpretation
                                                                    Definition

                                                                    A categorical assessment of an observation value. For example, high, low, normal.

                                                                    ShortHigh, low, normal, etc.
                                                                    Comments

                                                                    Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                    Control0..*
                                                                    This element is affected by the following invariants: ele-1
                                                                    BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                    (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                    Codes identifying interpretations of observations.

                                                                    TypeCodeableConcept
                                                                    Requirements

                                                                    For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                    Alternate NamesAbnormal Flag
                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                    326. Observation.component:genomic-hgvs.referenceRange
                                                                    Definition

                                                                    Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                    ShortProvides guide for interpretation of component result
                                                                    Comments

                                                                    Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                    Control0..*
                                                                    TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                    Requirements

                                                                    Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                    328. Observation.component:cytogenomic-nomenclature
                                                                    Slice Namecytogenomic-nomenclature
                                                                    Definition

                                                                    Fully describes a variant with a single code. Typically a large variant such as a mosaic, abnormal chromosome numbers, etc.

                                                                    ShortCytogenomic Nomenclature (ISCN)
                                                                    Comments

                                                                    For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                    Control0..1
                                                                    This element is affected by the following invariants: ele-1
                                                                    TypeBackboneElement
                                                                    Summarytrue
                                                                    Requirements

                                                                    Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                    330. Observation.component:cytogenomic-nomenclature.id
                                                                    Definition

                                                                    Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                    ShortUnique id for inter-element referencing
                                                                    Control0..1
                                                                    Typestring
                                                                    XML FormatIn the XML format, this property is represented as an attribute.
                                                                    332. Observation.component:cytogenomic-nomenclature.extension
                                                                    Definition

                                                                    May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                    ShortAdditional content defined by implementations
                                                                    Comments

                                                                    There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                    Control0..*
                                                                    This element is affected by the following invariants: ele-1
                                                                    TypeExtension
                                                                    Alternate Namesextensions, user content
                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                    ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                    SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                    • value @ url
                                                                    • 334. Observation.component:cytogenomic-nomenclature.modifierExtension
                                                                      Definition

                                                                      May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                      Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                      ShortExtensions that cannot be ignored even if unrecognized
                                                                      Comments

                                                                      There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                      Control0..*
                                                                      This element is affected by the following invariants: ele-1
                                                                      TypeExtension
                                                                      Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                      Summarytrue
                                                                      Requirements

                                                                      Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                      Alternate Namesextensions, user content, modifiers
                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                      336. Observation.component:cytogenomic-nomenclature.code
                                                                      Definition

                                                                      Describes what was observed. Sometimes this is called the observation "code".

                                                                      Short81291-7
                                                                      Comments

                                                                      All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                      Control1..1
                                                                      This element is affected by the following invariants: ele-1
                                                                      BindingFor example codes, see LOINCCodes
                                                                      (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                      Codes identifying names of simple observations.

                                                                      TypeCodeableConcept
                                                                      Summarytrue
                                                                      Requirements

                                                                      Knowing what kind of observation is being made is essential to understanding the observation.

                                                                      Pattern Value{
                                                                        "coding" : [{
                                                                          "system" : "http://loinc.org",
                                                                          "code" : "81291-7"
                                                                        }]
                                                                      }
                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                      338. Observation.component:cytogenomic-nomenclature.value[x]
                                                                      Definition

                                                                      The information determined as a result of making the observation, if the information has a simple value.

                                                                      ShortActual component result
                                                                      Comments

                                                                      Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                      Control1..1
                                                                      This element is affected by the following invariants: ele-1
                                                                      Binding

                                                                      Binding not yet defined

                                                                      TypeCodeableConcept
                                                                      [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                      Summarytrue
                                                                      Requirements

                                                                      An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                      340. Observation.component:cytogenomic-nomenclature.dataAbsentReason
                                                                      Definition

                                                                      Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                      ShortWhy the component result is missing
                                                                      Comments

                                                                      "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                      The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                      Control0..1
                                                                      This element is affected by the following invariants: ele-1, obs-6
                                                                      BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                      (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                      Codes specifying why the result (Observation.value[x]) is missing.

                                                                      TypeCodeableConcept
                                                                      Requirements

                                                                      For many results it is necessary to handle exceptional values in measurements.

                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                      342. Observation.component:cytogenomic-nomenclature.interpretation
                                                                      Definition

                                                                      A categorical assessment of an observation value. For example, high, low, normal.

                                                                      ShortHigh, low, normal, etc.
                                                                      Comments

                                                                      Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                      Control0..*
                                                                      This element is affected by the following invariants: ele-1
                                                                      BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                      (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                      Codes identifying interpretations of observations.

                                                                      TypeCodeableConcept
                                                                      Requirements

                                                                      For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                      Alternate NamesAbnormal Flag
                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                      344. Observation.component:cytogenomic-nomenclature.referenceRange
                                                                      Definition

                                                                      Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                      ShortProvides guide for interpretation of component result
                                                                      Comments

                                                                      Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                      Control0..*
                                                                      TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                      Requirements

                                                                      Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                      346. Observation.component:genomic-ref-seq
                                                                      Slice Namegenomic-ref-seq
                                                                      Definition

                                                                      Die genomische Referenzsequenz-ID wie z.B. NC_000007.14

                                                                      ShortGenomische Referenzsequenz
                                                                      Comments

                                                                      For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                      Control0..1
                                                                      This element is affected by the following invariants: ele-1
                                                                      TypeBackboneElement
                                                                      Must Supporttrue
                                                                      Summarytrue
                                                                      Requirements

                                                                      Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                      348. Observation.component:genomic-ref-seq.id
                                                                      Definition

                                                                      Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                      ShortUnique id for inter-element referencing
                                                                      Control0..1
                                                                      Typestring
                                                                      XML FormatIn the XML format, this property is represented as an attribute.
                                                                      350. Observation.component:genomic-ref-seq.extension
                                                                      Definition

                                                                      May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                      ShortAdditional content defined by implementations
                                                                      Comments

                                                                      There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                      Control0..*
                                                                      This element is affected by the following invariants: ele-1
                                                                      TypeExtension
                                                                      Alternate Namesextensions, user content
                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                      SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                      • value @ url
                                                                      • 352. Observation.component:genomic-ref-seq.modifierExtension
                                                                        Definition

                                                                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                        ShortExtensions that cannot be ignored even if unrecognized
                                                                        Comments

                                                                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                        Control0..*
                                                                        This element is affected by the following invariants: ele-1
                                                                        TypeExtension
                                                                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                        Summarytrue
                                                                        Requirements

                                                                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                        Alternate Namesextensions, user content, modifiers
                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                        354. Observation.component:genomic-ref-seq.code
                                                                        Definition

                                                                        Describes what was observed. Sometimes this is called the observation "code".

                                                                        Short48013-7
                                                                        Comments

                                                                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                        Control1..1
                                                                        This element is affected by the following invariants: ele-1
                                                                        BindingFor example codes, see LOINCCodes
                                                                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                        Codes identifying names of simple observations.

                                                                        TypeCodeableConcept
                                                                        Summarytrue
                                                                        Requirements

                                                                        Knowing what kind of observation is being made is essential to understanding the observation.

                                                                        Pattern Value{
                                                                          "coding" : [{
                                                                            "system" : "http://loinc.org",
                                                                            "code" : "48013-7"
                                                                          }]
                                                                        }
                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                        356. Observation.component:genomic-ref-seq.value[x]
                                                                        Definition

                                                                        The information determined as a result of making the observation, if the information has a simple value.

                                                                        ShortVersioned genomic reference sequence identifier
                                                                        Comments

                                                                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                        Control1..1
                                                                        This element is affected by the following invariants: ele-1
                                                                        Binding

                                                                        Multiple bindings acceptable (NCBI or LRG)

                                                                        TypeCodeableConcept
                                                                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                        Summarytrue
                                                                        Requirements

                                                                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                        358. Observation.component:genomic-ref-seq.dataAbsentReason
                                                                        Definition

                                                                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                        ShortWhy the component result is missing
                                                                        Comments

                                                                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                        Control0..1
                                                                        This element is affected by the following invariants: ele-1, obs-6
                                                                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                        Codes specifying why the result (Observation.value[x]) is missing.

                                                                        TypeCodeableConcept
                                                                        Requirements

                                                                        For many results it is necessary to handle exceptional values in measurements.

                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                        360. Observation.component:genomic-ref-seq.interpretation
                                                                        Definition

                                                                        A categorical assessment of an observation value. For example, high, low, normal.

                                                                        ShortHigh, low, normal, etc.
                                                                        Comments

                                                                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                        Control0..*
                                                                        This element is affected by the following invariants: ele-1
                                                                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                        Codes identifying interpretations of observations.

                                                                        TypeCodeableConcept
                                                                        Requirements

                                                                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                        Alternate NamesAbnormal Flag
                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                        362. Observation.component:genomic-ref-seq.referenceRange
                                                                        Definition

                                                                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                        ShortProvides guide for interpretation of component result
                                                                        Comments

                                                                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                        Control0..*
                                                                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                        Requirements

                                                                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                        364. Observation.component:representative-protein-ref-seq
                                                                        Slice Namerepresentative-protein-ref-seq
                                                                        Definition

                                                                        ID of the protein reference sequence, which includes transcribed and non transcribed stretches. It covers the entire protein described.

                                                                        ShortProtein Reference Sequence
                                                                        Comments

                                                                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                        Control0..1
                                                                        This element is affected by the following invariants: ele-1
                                                                        TypeBackboneElement
                                                                        Summarytrue
                                                                        Requirements

                                                                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                        366. Observation.component:representative-protein-ref-seq.id
                                                                        Definition

                                                                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                        ShortUnique id for inter-element referencing
                                                                        Control0..1
                                                                        Typestring
                                                                        XML FormatIn the XML format, this property is represented as an attribute.
                                                                        368. Observation.component:representative-protein-ref-seq.extension
                                                                        Definition

                                                                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                        ShortAdditional content defined by implementations
                                                                        Comments

                                                                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                        Control0..*
                                                                        This element is affected by the following invariants: ele-1
                                                                        TypeExtension
                                                                        Alternate Namesextensions, user content
                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                        SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                        • value @ url
                                                                        • 370. Observation.component:representative-protein-ref-seq.modifierExtension
                                                                          Definition

                                                                          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                          ShortExtensions that cannot be ignored even if unrecognized
                                                                          Comments

                                                                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                          Control0..*
                                                                          This element is affected by the following invariants: ele-1
                                                                          TypeExtension
                                                                          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                          Summarytrue
                                                                          Requirements

                                                                          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                          Alternate Namesextensions, user content, modifiers
                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                          372. Observation.component:representative-protein-ref-seq.code
                                                                          Definition

                                                                          Describes what was observed. Sometimes this is called the observation "code".

                                                                          Shortprotein-ref-seq
                                                                          Comments

                                                                          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                          Control1..1
                                                                          This element is affected by the following invariants: ele-1
                                                                          BindingFor example codes, see LOINCCodes
                                                                          (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                          Codes identifying names of simple observations.

                                                                          TypeCodeableConcept
                                                                          Summarytrue
                                                                          Requirements

                                                                          Knowing what kind of observation is being made is essential to understanding the observation.

                                                                          Pattern Value{
                                                                            "coding" : [{
                                                                              "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                                                                              "code" : "protein-ref-seq"
                                                                            }]
                                                                          }
                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                          374. Observation.component:representative-protein-ref-seq.value[x]
                                                                          Definition

                                                                          The information determined as a result of making the observation, if the information has a simple value.

                                                                          ShortVersioned protein reference sequence identifier
                                                                          Comments

                                                                          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                          Control1..1
                                                                          This element is affected by the following invariants: ele-1
                                                                          Binding

                                                                          Multiple bindings acceptable (NCBI or LRG)

                                                                          TypeCodeableConcept
                                                                          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                          Summarytrue
                                                                          Requirements

                                                                          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                          376. Observation.component:representative-protein-ref-seq.dataAbsentReason
                                                                          Definition

                                                                          Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                          ShortWhy the component result is missing
                                                                          Comments

                                                                          "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                          The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                          Control0..1
                                                                          This element is affected by the following invariants: ele-1, obs-6
                                                                          BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                          (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                          Codes specifying why the result (Observation.value[x]) is missing.

                                                                          TypeCodeableConcept
                                                                          Requirements

                                                                          For many results it is necessary to handle exceptional values in measurements.

                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                          378. Observation.component:representative-protein-ref-seq.interpretation
                                                                          Definition

                                                                          A categorical assessment of an observation value. For example, high, low, normal.

                                                                          ShortHigh, low, normal, etc.
                                                                          Comments

                                                                          Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                          Control0..*
                                                                          This element is affected by the following invariants: ele-1
                                                                          BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                          (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                          Codes identifying interpretations of observations.

                                                                          TypeCodeableConcept
                                                                          Requirements

                                                                          For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                          Alternate NamesAbnormal Flag
                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                          380. Observation.component:representative-protein-ref-seq.referenceRange
                                                                          Definition

                                                                          Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                          ShortProvides guide for interpretation of component result
                                                                          Comments

                                                                          Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                          Control0..*
                                                                          TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                          Requirements

                                                                          Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                          382. Observation.component:representative-transcript-ref-seq
                                                                          Slice Namerepresentative-transcript-ref-seq
                                                                          Definition

                                                                          Die Transkript-Referenzsequenz-ID wie z.B. NM_004333.4

                                                                          ShortTranskript-Referenzsequenz
                                                                          Comments

                                                                          For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                          Control0..1
                                                                          This element is affected by the following invariants: ele-1
                                                                          TypeBackboneElement
                                                                          Must Supporttrue
                                                                          Summarytrue
                                                                          Requirements

                                                                          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                          384. Observation.component:representative-transcript-ref-seq.id
                                                                          Definition

                                                                          Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                          ShortUnique id for inter-element referencing
                                                                          Control0..1
                                                                          Typestring
                                                                          XML FormatIn the XML format, this property is represented as an attribute.
                                                                          386. Observation.component:representative-transcript-ref-seq.extension
                                                                          Definition

                                                                          May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                          ShortAdditional content defined by implementations
                                                                          Comments

                                                                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                          Control0..*
                                                                          This element is affected by the following invariants: ele-1
                                                                          TypeExtension
                                                                          Alternate Namesextensions, user content
                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                          SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                          • value @ url
                                                                          • 388. Observation.component:representative-transcript-ref-seq.modifierExtension
                                                                            Definition

                                                                            May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                            Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                            ShortExtensions that cannot be ignored even if unrecognized
                                                                            Comments

                                                                            There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                            Control0..*
                                                                            This element is affected by the following invariants: ele-1
                                                                            TypeExtension
                                                                            Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                            Summarytrue
                                                                            Requirements

                                                                            Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                            Alternate Namesextensions, user content, modifiers
                                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                            ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                            390. Observation.component:representative-transcript-ref-seq.code
                                                                            Definition

                                                                            Describes what was observed. Sometimes this is called the observation "code".

                                                                            Short51958-7
                                                                            Comments

                                                                            All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                            Control1..1
                                                                            This element is affected by the following invariants: ele-1
                                                                            BindingFor example codes, see LOINCCodes
                                                                            (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                            Codes identifying names of simple observations.

                                                                            TypeCodeableConcept
                                                                            Summarytrue
                                                                            Requirements

                                                                            Knowing what kind of observation is being made is essential to understanding the observation.

                                                                            Pattern Value{
                                                                              "coding" : [{
                                                                                "system" : "http://loinc.org",
                                                                                "code" : "51958-7"
                                                                              }]
                                                                            }
                                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                            392. Observation.component:representative-transcript-ref-seq.value[x]
                                                                            Definition

                                                                            The information determined as a result of making the observation, if the information has a simple value.

                                                                            ShortVersioned transcript reference sequence identifier
                                                                            Comments

                                                                            Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                            Control1..1
                                                                            This element is affected by the following invariants: ele-1
                                                                            Binding

                                                                            Multiple bindings acceptable (NCBI or LRG)

                                                                            TypeCodeableConcept
                                                                            [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                            Summarytrue
                                                                            Requirements

                                                                            An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                            394. Observation.component:representative-transcript-ref-seq.dataAbsentReason
                                                                            Definition

                                                                            Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                            ShortWhy the component result is missing
                                                                            Comments

                                                                            "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                            The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                            Control0..1
                                                                            This element is affected by the following invariants: ele-1, obs-6
                                                                            BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                            (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                            Codes specifying why the result (Observation.value[x]) is missing.

                                                                            TypeCodeableConcept
                                                                            Requirements

                                                                            For many results it is necessary to handle exceptional values in measurements.

                                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                            396. Observation.component:representative-transcript-ref-seq.interpretation
                                                                            Definition

                                                                            A categorical assessment of an observation value. For example, high, low, normal.

                                                                            ShortHigh, low, normal, etc.
                                                                            Comments

                                                                            Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                            Control0..*
                                                                            This element is affected by the following invariants: ele-1
                                                                            BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                            (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                            Codes identifying interpretations of observations.

                                                                            TypeCodeableConcept
                                                                            Requirements

                                                                            For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                            Alternate NamesAbnormal Flag
                                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                            398. Observation.component:representative-transcript-ref-seq.referenceRange
                                                                            Definition

                                                                            Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                            ShortProvides guide for interpretation of component result
                                                                            Comments

                                                                            Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                            Control0..*
                                                                            TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                            Requirements

                                                                            Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                            400. Observation.component:exact-start-end
                                                                            Slice Nameexact-start-end
                                                                            Definition

                                                                            Die exakten genomischen Koordinaten der Variante - Start und Ende

                                                                            ShortExakte Start-End-Position
                                                                            Comments

                                                                            For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                            Control0..1
                                                                            This element is affected by the following invariants: ele-1
                                                                            TypeBackboneElement
                                                                            Must Supporttrue
                                                                            Summarytrue
                                                                            Requirements

                                                                            Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                            402. Observation.component:exact-start-end.id
                                                                            Definition

                                                                            Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                            ShortUnique id for inter-element referencing
                                                                            Control0..1
                                                                            Typestring
                                                                            XML FormatIn the XML format, this property is represented as an attribute.
                                                                            404. Observation.component:exact-start-end.extension
                                                                            Definition

                                                                            May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                            ShortAdditional content defined by implementations
                                                                            Comments

                                                                            There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                            Control0..*
                                                                            This element is affected by the following invariants: ele-1
                                                                            TypeExtension
                                                                            Alternate Namesextensions, user content
                                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                            ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                            SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                            • value @ url
                                                                            • 406. Observation.component:exact-start-end.modifierExtension
                                                                              Definition

                                                                              May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                              Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                              ShortExtensions that cannot be ignored even if unrecognized
                                                                              Comments

                                                                              There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                              Control0..*
                                                                              This element is affected by the following invariants: ele-1
                                                                              TypeExtension
                                                                              Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                              Summarytrue
                                                                              Requirements

                                                                              Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                              Alternate Namesextensions, user content, modifiers
                                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                              ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                              408. Observation.component:exact-start-end.code
                                                                              Definition

                                                                              Describes what was observed. Sometimes this is called the observation "code".

                                                                              Short81254-5
                                                                              Comments

                                                                              All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                              Control1..1
                                                                              This element is affected by the following invariants: ele-1
                                                                              BindingFor example codes, see LOINCCodes
                                                                              (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                              Codes identifying names of simple observations.

                                                                              TypeCodeableConcept
                                                                              Summarytrue
                                                                              Requirements

                                                                              Knowing what kind of observation is being made is essential to understanding the observation.

                                                                              Pattern Value{
                                                                                "coding" : [{
                                                                                  "system" : "http://loinc.org",
                                                                                  "code" : "81254-5"
                                                                                }]
                                                                              }
                                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                              410. Observation.component:exact-start-end.value[x]
                                                                              Definition

                                                                              The information determined as a result of making the observation, if the information has a simple value.

                                                                              ShortRange in question. 'High' can be omitted for single nucleotide variants.
                                                                              Comments

                                                                              Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                              Control0..1
                                                                              This element is affected by the following invariants: ele-1
                                                                              TypeRange
                                                                              [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                              Summarytrue
                                                                              Requirements

                                                                              An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                              412. Observation.component:exact-start-end.dataAbsentReason
                                                                              Definition

                                                                              Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                              ShortWhy the component result is missing
                                                                              Comments

                                                                              "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                              The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                              Control0..1
                                                                              This element is affected by the following invariants: ele-1, obs-6
                                                                              BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                              (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                              Codes specifying why the result (Observation.value[x]) is missing.

                                                                              TypeCodeableConcept
                                                                              Requirements

                                                                              For many results it is necessary to handle exceptional values in measurements.

                                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                              414. Observation.component:exact-start-end.interpretation
                                                                              Definition

                                                                              A categorical assessment of an observation value. For example, high, low, normal.

                                                                              ShortHigh, low, normal, etc.
                                                                              Comments

                                                                              Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                              Control0..*
                                                                              This element is affected by the following invariants: ele-1
                                                                              BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                              (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                              Codes identifying interpretations of observations.

                                                                              TypeCodeableConcept
                                                                              Requirements

                                                                              For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                              Alternate NamesAbnormal Flag
                                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                              416. Observation.component:exact-start-end.referenceRange
                                                                              Definition

                                                                              Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                              ShortProvides guide for interpretation of component result
                                                                              Comments

                                                                              Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                              Control0..*
                                                                              TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                              Requirements

                                                                              Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                              418. Observation.component:inner-start-end
                                                                              Slice Nameinner-start-end
                                                                              Definition

                                                                              Der innere Bereich bei strukturellen Varianten

                                                                              ShortInnere Start-End-Position
                                                                              Comments

                                                                              For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                              Control0..1
                                                                              This element is affected by the following invariants: ele-1
                                                                              TypeBackboneElement
                                                                              Must Supporttrue
                                                                              Summarytrue
                                                                              Requirements

                                                                              Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                              420. Observation.component:inner-start-end.id
                                                                              Definition

                                                                              Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                              ShortUnique id for inter-element referencing
                                                                              Control0..1
                                                                              Typestring
                                                                              XML FormatIn the XML format, this property is represented as an attribute.
                                                                              422. Observation.component:inner-start-end.extension
                                                                              Definition

                                                                              May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                              ShortAdditional content defined by implementations
                                                                              Comments

                                                                              There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                              Control0..*
                                                                              This element is affected by the following invariants: ele-1
                                                                              TypeExtension
                                                                              Alternate Namesextensions, user content
                                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                              ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                              SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                              • value @ url
                                                                              • 424. Observation.component:inner-start-end.modifierExtension
                                                                                Definition

                                                                                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                                ShortExtensions that cannot be ignored even if unrecognized
                                                                                Comments

                                                                                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                Control0..*
                                                                                This element is affected by the following invariants: ele-1
                                                                                TypeExtension
                                                                                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                                Summarytrue
                                                                                Requirements

                                                                                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                                Alternate Namesextensions, user content, modifiers
                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                426. Observation.component:inner-start-end.code
                                                                                Definition

                                                                                Describes what was observed. Sometimes this is called the observation "code".

                                                                                Short81302-2
                                                                                Comments

                                                                                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                                Control1..1
                                                                                This element is affected by the following invariants: ele-1
                                                                                BindingFor example codes, see LOINCCodes
                                                                                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                                Codes identifying names of simple observations.

                                                                                TypeCodeableConcept
                                                                                Summarytrue
                                                                                Requirements

                                                                                Knowing what kind of observation is being made is essential to understanding the observation.

                                                                                Pattern Value{
                                                                                  "coding" : [{
                                                                                    "system" : "http://loinc.org",
                                                                                    "code" : "81302-2"
                                                                                  }]
                                                                                }
                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                428. Observation.component:inner-start-end.value[x]
                                                                                Definition

                                                                                The information determined as a result of making the observation, if the information has a simple value.

                                                                                ShortImprecise variant inner-bounding range
                                                                                Comments

                                                                                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                                Control0..1
                                                                                This element is affected by the following invariants: ele-1
                                                                                TypeRange
                                                                                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                                Summarytrue
                                                                                Requirements

                                                                                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                430. Observation.component:inner-start-end.dataAbsentReason
                                                                                Definition

                                                                                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                                ShortWhy the component result is missing
                                                                                Comments

                                                                                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                                Control0..1
                                                                                This element is affected by the following invariants: ele-1, obs-6
                                                                                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                                Codes specifying why the result (Observation.value[x]) is missing.

                                                                                TypeCodeableConcept
                                                                                Requirements

                                                                                For many results it is necessary to handle exceptional values in measurements.

                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                432. Observation.component:inner-start-end.interpretation
                                                                                Definition

                                                                                A categorical assessment of an observation value. For example, high, low, normal.

                                                                                ShortHigh, low, normal, etc.
                                                                                Comments

                                                                                Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                                Control0..*
                                                                                This element is affected by the following invariants: ele-1
                                                                                BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                                (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                                Codes identifying interpretations of observations.

                                                                                TypeCodeableConcept
                                                                                Requirements

                                                                                For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                                Alternate NamesAbnormal Flag
                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                434. Observation.component:inner-start-end.referenceRange
                                                                                Definition

                                                                                Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                                ShortProvides guide for interpretation of component result
                                                                                Comments

                                                                                Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                                Control0..*
                                                                                TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                                Requirements

                                                                                Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                                436. Observation.component:outer-start-end
                                                                                Slice Nameouter-start-end
                                                                                Definition

                                                                                Der äußere Bereich bei strukturellen Varianten

                                                                                ShortÄußere Start-End-Position
                                                                                Comments

                                                                                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                                Control0..1
                                                                                This element is affected by the following invariants: ele-1
                                                                                TypeBackboneElement
                                                                                Must Supporttrue
                                                                                Summarytrue
                                                                                Requirements

                                                                                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                438. Observation.component:outer-start-end.id
                                                                                Definition

                                                                                Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                                ShortUnique id for inter-element referencing
                                                                                Control0..1
                                                                                Typestring
                                                                                XML FormatIn the XML format, this property is represented as an attribute.
                                                                                440. Observation.component:outer-start-end.extension
                                                                                Definition

                                                                                May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                                ShortAdditional content defined by implementations
                                                                                Comments

                                                                                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                Control0..*
                                                                                This element is affected by the following invariants: ele-1
                                                                                TypeExtension
                                                                                Alternate Namesextensions, user content
                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                                • value @ url
                                                                                • 442. Observation.component:outer-start-end.modifierExtension
                                                                                  Definition

                                                                                  May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                                  Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                                  ShortExtensions that cannot be ignored even if unrecognized
                                                                                  Comments

                                                                                  There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                  Control0..*
                                                                                  This element is affected by the following invariants: ele-1
                                                                                  TypeExtension
                                                                                  Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                                  Summarytrue
                                                                                  Requirements

                                                                                  Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                                  Alternate Namesextensions, user content, modifiers
                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                  ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                  444. Observation.component:outer-start-end.code
                                                                                  Definition

                                                                                  Describes what was observed. Sometimes this is called the observation "code".

                                                                                  Short81301-4
                                                                                  Comments

                                                                                  All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                                  Control1..1
                                                                                  This element is affected by the following invariants: ele-1
                                                                                  BindingFor example codes, see LOINCCodes
                                                                                  (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                                  Codes identifying names of simple observations.

                                                                                  TypeCodeableConcept
                                                                                  Summarytrue
                                                                                  Requirements

                                                                                  Knowing what kind of observation is being made is essential to understanding the observation.

                                                                                  Pattern Value{
                                                                                    "coding" : [{
                                                                                      "system" : "http://loinc.org",
                                                                                      "code" : "81301-4"
                                                                                    }]
                                                                                  }
                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                  446. Observation.component:outer-start-end.value[x]
                                                                                  Definition

                                                                                  The information determined as a result of making the observation, if the information has a simple value.

                                                                                  ShortImprecise variant outer-bounding range
                                                                                  Comments

                                                                                  Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                                  Control0..1
                                                                                  This element is affected by the following invariants: ele-1
                                                                                  TypeRange
                                                                                  [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                                  Summarytrue
                                                                                  Requirements

                                                                                  An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                  448. Observation.component:outer-start-end.dataAbsentReason
                                                                                  Definition

                                                                                  Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                                  ShortWhy the component result is missing
                                                                                  Comments

                                                                                  "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                                  The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                                  Control0..1
                                                                                  This element is affected by the following invariants: ele-1, obs-6
                                                                                  BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                                  (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                                  Codes specifying why the result (Observation.value[x]) is missing.

                                                                                  TypeCodeableConcept
                                                                                  Requirements

                                                                                  For many results it is necessary to handle exceptional values in measurements.

                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                  450. Observation.component:outer-start-end.interpretation
                                                                                  Definition

                                                                                  A categorical assessment of an observation value. For example, high, low, normal.

                                                                                  ShortHigh, low, normal, etc.
                                                                                  Comments

                                                                                  Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                                  Control0..*
                                                                                  This element is affected by the following invariants: ele-1
                                                                                  BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                                  (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                                  Codes identifying interpretations of observations.

                                                                                  TypeCodeableConcept
                                                                                  Requirements

                                                                                  For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                                  Alternate NamesAbnormal Flag
                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                  452. Observation.component:outer-start-end.referenceRange
                                                                                  Definition

                                                                                  Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                                  ShortProvides guide for interpretation of component result
                                                                                  Comments

                                                                                  Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                                  Control0..*
                                                                                  TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                                  Requirements

                                                                                  Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                                  454. Observation.component:coordinate-system
                                                                                  Slice Namecoordinate-system
                                                                                  Definition

                                                                                  These are different ways of identifying nucleotides or amino acids within a sequence. In the 1-based system, the first unit of the polymer (e.g. the first nucleotide) is counted as number 1. In the 0-based system, the number 0 designates the location before the first nucleotide. Different databases and file types may use different systems.

                                                                                  ShortCoordinate System
                                                                                  Comments

                                                                                  For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                                  Control0..1
                                                                                  This element is affected by the following invariants: ele-1
                                                                                  TypeBackboneElement
                                                                                  Summarytrue
                                                                                  Requirements

                                                                                  Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                  456. Observation.component:coordinate-system.id
                                                                                  Definition

                                                                                  Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                                  ShortUnique id for inter-element referencing
                                                                                  Control0..1
                                                                                  Typestring
                                                                                  XML FormatIn the XML format, this property is represented as an attribute.
                                                                                  458. Observation.component:coordinate-system.extension
                                                                                  Definition

                                                                                  May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                                  ShortAdditional content defined by implementations
                                                                                  Comments

                                                                                  There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                  Control0..*
                                                                                  This element is affected by the following invariants: ele-1
                                                                                  TypeExtension
                                                                                  Alternate Namesextensions, user content
                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                  ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                  SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                                  • value @ url
                                                                                  • 460. Observation.component:coordinate-system.modifierExtension
                                                                                    Definition

                                                                                    May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                                    Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                                    ShortExtensions that cannot be ignored even if unrecognized
                                                                                    Comments

                                                                                    There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                    Control0..*
                                                                                    This element is affected by the following invariants: ele-1
                                                                                    TypeExtension
                                                                                    Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                                    Summarytrue
                                                                                    Requirements

                                                                                    Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                                    Alternate Namesextensions, user content, modifiers
                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                    ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                    462. Observation.component:coordinate-system.code
                                                                                    Definition

                                                                                    Describes what was observed. Sometimes this is called the observation "code".

                                                                                    Short92822-6
                                                                                    Comments

                                                                                    All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                                    Control1..1
                                                                                    This element is affected by the following invariants: ele-1
                                                                                    BindingFor example codes, see LOINCCodes
                                                                                    (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                                    Codes identifying names of simple observations.

                                                                                    TypeCodeableConcept
                                                                                    Summarytrue
                                                                                    Requirements

                                                                                    Knowing what kind of observation is being made is essential to understanding the observation.

                                                                                    Pattern Value{
                                                                                      "coding" : [{
                                                                                        "system" : "http://loinc.org",
                                                                                        "code" : "92822-6"
                                                                                      }]
                                                                                    }
                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                    464. Observation.component:coordinate-system.value[x]
                                                                                    Definition

                                                                                    The information determined as a result of making the observation, if the information has a simple value.

                                                                                    Short0-based interval counting | 0-based character counting | 1-based character counting
                                                                                    Comments

                                                                                    Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                                    Control1..1
                                                                                    This element is affected by the following invariants: ele-1
                                                                                    BindingUnless not suitable, these codes SHALL be taken from LOINC Answer List LL5323-2
                                                                                    (extensible to http://loinc.org/vs/LL5323-2)
                                                                                    TypeCodeableConcept
                                                                                    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                                    Summarytrue
                                                                                    Requirements

                                                                                    An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                    466. Observation.component:coordinate-system.dataAbsentReason
                                                                                    Definition

                                                                                    Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                                    ShortWhy the component result is missing
                                                                                    Comments

                                                                                    "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                                    The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                                    Control0..1
                                                                                    This element is affected by the following invariants: ele-1, obs-6
                                                                                    BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                                    (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                                    Codes specifying why the result (Observation.value[x]) is missing.

                                                                                    TypeCodeableConcept
                                                                                    Requirements

                                                                                    For many results it is necessary to handle exceptional values in measurements.

                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                    468. Observation.component:coordinate-system.interpretation
                                                                                    Definition

                                                                                    A categorical assessment of an observation value. For example, high, low, normal.

                                                                                    ShortHigh, low, normal, etc.
                                                                                    Comments

                                                                                    Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                                    Control0..*
                                                                                    This element is affected by the following invariants: ele-1
                                                                                    BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                                    (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                                    Codes identifying interpretations of observations.

                                                                                    TypeCodeableConcept
                                                                                    Requirements

                                                                                    For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                                    Alternate NamesAbnormal Flag
                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                    470. Observation.component:coordinate-system.referenceRange
                                                                                    Definition

                                                                                    Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                                    ShortProvides guide for interpretation of component result
                                                                                    Comments

                                                                                    Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                                    Control0..*
                                                                                    TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                                    Requirements

                                                                                    Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                                    472. Observation.component:ref-allele
                                                                                    Slice Nameref-allele
                                                                                    Definition

                                                                                    Die Nukleotidsequenz des Referenz-Allels

                                                                                    ShortReferenz-Allel
                                                                                    Comments

                                                                                    For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                                    Control0..1
                                                                                    This element is affected by the following invariants: ele-1
                                                                                    TypeBackboneElement
                                                                                    Must Supporttrue
                                                                                    Summarytrue
                                                                                    Requirements

                                                                                    Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                    474. Observation.component:ref-allele.id
                                                                                    Definition

                                                                                    Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                                    ShortUnique id for inter-element referencing
                                                                                    Control0..1
                                                                                    Typestring
                                                                                    XML FormatIn the XML format, this property is represented as an attribute.
                                                                                    476. Observation.component:ref-allele.extension
                                                                                    Definition

                                                                                    May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                                    ShortAdditional content defined by implementations
                                                                                    Comments

                                                                                    There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                    Control0..*
                                                                                    This element is affected by the following invariants: ele-1
                                                                                    TypeExtension
                                                                                    Alternate Namesextensions, user content
                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                    ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                    SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                                    • value @ url
                                                                                    • 478. Observation.component:ref-allele.modifierExtension
                                                                                      Definition

                                                                                      May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                                      Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                                      ShortExtensions that cannot be ignored even if unrecognized
                                                                                      Comments

                                                                                      There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                      Control0..*
                                                                                      This element is affected by the following invariants: ele-1
                                                                                      TypeExtension
                                                                                      Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                                      Summarytrue
                                                                                      Requirements

                                                                                      Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                                      Alternate Namesextensions, user content, modifiers
                                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                      480. Observation.component:ref-allele.code
                                                                                      Definition

                                                                                      Describes what was observed. Sometimes this is called the observation "code".

                                                                                      Short69547-8
                                                                                      Comments

                                                                                      All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                                      Control1..1
                                                                                      This element is affected by the following invariants: ele-1
                                                                                      BindingFor example codes, see LOINCCodes
                                                                                      (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                                      Codes identifying names of simple observations.

                                                                                      TypeCodeableConcept
                                                                                      Summarytrue
                                                                                      Requirements

                                                                                      Knowing what kind of observation is being made is essential to understanding the observation.

                                                                                      Pattern Value{
                                                                                        "coding" : [{
                                                                                          "system" : "http://loinc.org",
                                                                                          "code" : "69547-8"
                                                                                        }]
                                                                                      }
                                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                      482. Observation.component:ref-allele.value[x]
                                                                                      Definition

                                                                                      The information determined as a result of making the observation, if the information has a simple value.

                                                                                      ShortNormalized string per the VCF format.
                                                                                      Comments

                                                                                      Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                                      Control0..1
                                                                                      This element is affected by the following invariants: ele-1
                                                                                      Typestring
                                                                                      [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                                      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                                      Summarytrue
                                                                                      Requirements

                                                                                      An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                      484. Observation.component:ref-allele.dataAbsentReason
                                                                                      Definition

                                                                                      Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                                      ShortWhy the component result is missing
                                                                                      Comments

                                                                                      "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                                      The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                                      Control0..1
                                                                                      This element is affected by the following invariants: ele-1, obs-6
                                                                                      BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                                      (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                                      Codes specifying why the result (Observation.value[x]) is missing.

                                                                                      TypeCodeableConcept
                                                                                      Requirements

                                                                                      For many results it is necessary to handle exceptional values in measurements.

                                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                      486. Observation.component:ref-allele.interpretation
                                                                                      Definition

                                                                                      A categorical assessment of an observation value. For example, high, low, normal.

                                                                                      ShortHigh, low, normal, etc.
                                                                                      Comments

                                                                                      Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                                      Control0..*
                                                                                      This element is affected by the following invariants: ele-1
                                                                                      BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                                      (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                                      Codes identifying interpretations of observations.

                                                                                      TypeCodeableConcept
                                                                                      Requirements

                                                                                      For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                                      Alternate NamesAbnormal Flag
                                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                      488. Observation.component:ref-allele.referenceRange
                                                                                      Definition

                                                                                      Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                                      ShortProvides guide for interpretation of component result
                                                                                      Comments

                                                                                      Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                                      Control0..*
                                                                                      TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                                      Requirements

                                                                                      Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                                      490. Observation.component:alt-allele
                                                                                      Slice Namealt-allele
                                                                                      Definition

                                                                                      Die Nukleotidsequenz des alternativen - mutierten - Allels

                                                                                      ShortAlternatives Allel
                                                                                      Comments

                                                                                      For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                                      Control0..1
                                                                                      This element is affected by the following invariants: ele-1
                                                                                      TypeBackboneElement
                                                                                      Must Supporttrue
                                                                                      Summarytrue
                                                                                      Requirements

                                                                                      Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                      492. Observation.component:alt-allele.id
                                                                                      Definition

                                                                                      Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                                      ShortUnique id for inter-element referencing
                                                                                      Control0..1
                                                                                      Typestring
                                                                                      XML FormatIn the XML format, this property is represented as an attribute.
                                                                                      494. Observation.component:alt-allele.extension
                                                                                      Definition

                                                                                      May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                                      ShortAdditional content defined by implementations
                                                                                      Comments

                                                                                      There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                      Control0..*
                                                                                      This element is affected by the following invariants: ele-1
                                                                                      TypeExtension
                                                                                      Alternate Namesextensions, user content
                                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                      SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                                      • value @ url
                                                                                      • 496. Observation.component:alt-allele.modifierExtension
                                                                                        Definition

                                                                                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                                        ShortExtensions that cannot be ignored even if unrecognized
                                                                                        Comments

                                                                                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                        Control0..*
                                                                                        This element is affected by the following invariants: ele-1
                                                                                        TypeExtension
                                                                                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                                        Summarytrue
                                                                                        Requirements

                                                                                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                                        Alternate Namesextensions, user content, modifiers
                                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                        498. Observation.component:alt-allele.code
                                                                                        Definition

                                                                                        Describes what was observed. Sometimes this is called the observation "code".

                                                                                        Short69551-0
                                                                                        Comments

                                                                                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                                        Control1..1
                                                                                        This element is affected by the following invariants: ele-1
                                                                                        BindingFor example codes, see LOINCCodes
                                                                                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                                        Codes identifying names of simple observations.

                                                                                        TypeCodeableConcept
                                                                                        Summarytrue
                                                                                        Requirements

                                                                                        Knowing what kind of observation is being made is essential to understanding the observation.

                                                                                        Pattern Value{
                                                                                          "coding" : [{
                                                                                            "system" : "http://loinc.org",
                                                                                            "code" : "69551-0"
                                                                                          }]
                                                                                        }
                                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                        500. Observation.component:alt-allele.value[x]
                                                                                        Definition

                                                                                        The information determined as a result of making the observation, if the information has a simple value.

                                                                                        ShortNormalized string per the VCF format.
                                                                                        Comments

                                                                                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                                        Control0..1
                                                                                        This element is affected by the following invariants: ele-1
                                                                                        Typestring
                                                                                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                                        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                                        Summarytrue
                                                                                        Requirements

                                                                                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                        502. Observation.component:alt-allele.dataAbsentReason
                                                                                        Definition

                                                                                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                                        ShortWhy the component result is missing
                                                                                        Comments

                                                                                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                                        Control0..1
                                                                                        This element is affected by the following invariants: ele-1, obs-6
                                                                                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                                        Codes specifying why the result (Observation.value[x]) is missing.

                                                                                        TypeCodeableConcept
                                                                                        Requirements

                                                                                        For many results it is necessary to handle exceptional values in measurements.

                                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                        504. Observation.component:alt-allele.interpretation
                                                                                        Definition

                                                                                        A categorical assessment of an observation value. For example, high, low, normal.

                                                                                        ShortHigh, low, normal, etc.
                                                                                        Comments

                                                                                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                                        Control0..*
                                                                                        This element is affected by the following invariants: ele-1
                                                                                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                                        Codes identifying interpretations of observations.

                                                                                        TypeCodeableConcept
                                                                                        Requirements

                                                                                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                                        Alternate NamesAbnormal Flag
                                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                        506. Observation.component:alt-allele.referenceRange
                                                                                        Definition

                                                                                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                                        ShortProvides guide for interpretation of component result
                                                                                        Comments

                                                                                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                                        Control0..*
                                                                                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                                        Requirements

                                                                                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                                        508. Observation.component:coding-change-type
                                                                                        Slice Namecoding-change-type
                                                                                        Definition

                                                                                        Der Typ der DNA-Änderung wie z.B. Substitution oder Deletion

                                                                                        ShortDNA-Änderungstyp
                                                                                        Comments

                                                                                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                                        Control0..1
                                                                                        This element is affected by the following invariants: ele-1
                                                                                        TypeBackboneElement
                                                                                        Must Supporttrue
                                                                                        Summarytrue
                                                                                        Requirements

                                                                                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                        510. Observation.component:coding-change-type.id
                                                                                        Definition

                                                                                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                                        ShortUnique id for inter-element referencing
                                                                                        Control0..1
                                                                                        Typestring
                                                                                        XML FormatIn the XML format, this property is represented as an attribute.
                                                                                        512. Observation.component:coding-change-type.extension
                                                                                        Definition

                                                                                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                                        ShortAdditional content defined by implementations
                                                                                        Comments

                                                                                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                        Control0..*
                                                                                        This element is affected by the following invariants: ele-1
                                                                                        TypeExtension
                                                                                        Alternate Namesextensions, user content
                                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                        SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                                        • value @ url
                                                                                        • 514. Observation.component:coding-change-type.modifierExtension
                                                                                          Definition

                                                                                          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                                          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                                          ShortExtensions that cannot be ignored even if unrecognized
                                                                                          Comments

                                                                                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                          Control0..*
                                                                                          This element is affected by the following invariants: ele-1
                                                                                          TypeExtension
                                                                                          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                                          Summarytrue
                                                                                          Requirements

                                                                                          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                                          Alternate Namesextensions, user content, modifiers
                                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                          516. Observation.component:coding-change-type.code
                                                                                          Definition

                                                                                          Describes what was observed. Sometimes this is called the observation "code".

                                                                                          Short48019-4
                                                                                          Comments

                                                                                          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                                          Control1..1
                                                                                          This element is affected by the following invariants: ele-1
                                                                                          BindingFor example codes, see LOINCCodes
                                                                                          (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                                          Codes identifying names of simple observations.

                                                                                          TypeCodeableConcept
                                                                                          Summarytrue
                                                                                          Requirements

                                                                                          Knowing what kind of observation is being made is essential to understanding the observation.

                                                                                          Pattern Value{
                                                                                            "coding" : [{
                                                                                              "system" : "http://loinc.org",
                                                                                              "code" : "48019-4"
                                                                                            }]
                                                                                          }
                                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                          518. Observation.component:coding-change-type.value[x]
                                                                                          Definition

                                                                                          The information determined as a result of making the observation, if the information has a simple value.

                                                                                          Shortdeletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many)
                                                                                          Comments

                                                                                          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                                          Control1..1
                                                                                          This element is affected by the following invariants: ele-1
                                                                                          BindingUnless not suitable, these codes SHALL be taken from DNA Change Type
                                                                                          (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs)

                                                                                          Concepts in sequence ontology under SO:0002072

                                                                                          TypeCodeableConcept
                                                                                          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                                          Summarytrue
                                                                                          Requirements

                                                                                          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                          520. Observation.component:coding-change-type.dataAbsentReason
                                                                                          Definition

                                                                                          Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                                          ShortWhy the component result is missing
                                                                                          Comments

                                                                                          "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                                          The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                                          Control0..1
                                                                                          This element is affected by the following invariants: ele-1, obs-6
                                                                                          BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                                          (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                                          Codes specifying why the result (Observation.value[x]) is missing.

                                                                                          TypeCodeableConcept
                                                                                          Requirements

                                                                                          For many results it is necessary to handle exceptional values in measurements.

                                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                          522. Observation.component:coding-change-type.interpretation
                                                                                          Definition

                                                                                          A categorical assessment of an observation value. For example, high, low, normal.

                                                                                          ShortHigh, low, normal, etc.
                                                                                          Comments

                                                                                          Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                                          Control0..*
                                                                                          This element is affected by the following invariants: ele-1
                                                                                          BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                                          (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                                          Codes identifying interpretations of observations.

                                                                                          TypeCodeableConcept
                                                                                          Requirements

                                                                                          For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                                          Alternate NamesAbnormal Flag
                                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                          524. Observation.component:coding-change-type.referenceRange
                                                                                          Definition

                                                                                          Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                                          ShortProvides guide for interpretation of component result
                                                                                          Comments

                                                                                          Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                                          Control0..*
                                                                                          TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                                          Requirements

                                                                                          Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                                          526. Observation.component:genomic-source-class
                                                                                          Slice Namegenomic-source-class
                                                                                          Definition

                                                                                          Die Herkunft der Variante wie z.B. somatisch oder Keimbahn

                                                                                          ShortGenomische Herkunftsklasse
                                                                                          Comments

                                                                                          For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                                          Control0..1
                                                                                          This element is affected by the following invariants: ele-1
                                                                                          TypeBackboneElement
                                                                                          Must Supporttrue
                                                                                          Summarytrue
                                                                                          Requirements

                                                                                          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                          528. Observation.component:genomic-source-class.id
                                                                                          Definition

                                                                                          Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                                          ShortUnique id for inter-element referencing
                                                                                          Control0..1
                                                                                          Typestring
                                                                                          XML FormatIn the XML format, this property is represented as an attribute.
                                                                                          530. Observation.component:genomic-source-class.extension
                                                                                          Definition

                                                                                          May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                                          ShortAdditional content defined by implementations
                                                                                          Comments

                                                                                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                          Control0..*
                                                                                          This element is affected by the following invariants: ele-1
                                                                                          TypeExtension
                                                                                          Alternate Namesextensions, user content
                                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                          SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                                          • value @ url
                                                                                          • 532. Observation.component:genomic-source-class.modifierExtension
                                                                                            Definition

                                                                                            May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                                            Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                                            ShortExtensions that cannot be ignored even if unrecognized
                                                                                            Comments

                                                                                            There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                            Control0..*
                                                                                            This element is affected by the following invariants: ele-1
                                                                                            TypeExtension
                                                                                            Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                                            Summarytrue
                                                                                            Requirements

                                                                                            Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                                            Alternate Namesextensions, user content, modifiers
                                                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                            ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                            534. Observation.component:genomic-source-class.code
                                                                                            Definition

                                                                                            Describes what was observed. Sometimes this is called the observation "code".

                                                                                            Short48002-0
                                                                                            Comments

                                                                                            All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                                            Control1..1
                                                                                            This element is affected by the following invariants: ele-1
                                                                                            BindingFor example codes, see LOINCCodes
                                                                                            (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                                            Codes identifying names of simple observations.

                                                                                            TypeCodeableConcept
                                                                                            Summarytrue
                                                                                            Requirements

                                                                                            Knowing what kind of observation is being made is essential to understanding the observation.

                                                                                            Pattern Value{
                                                                                              "coding" : [{
                                                                                                "system" : "http://loinc.org",
                                                                                                "code" : "48002-0"
                                                                                              }]
                                                                                            }
                                                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                            536. Observation.component:genomic-source-class.value[x]
                                                                                            Definition

                                                                                            The information determined as a result of making the observation, if the information has a simple value.

                                                                                            ShortGermline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo
                                                                                            Comments

                                                                                            Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                                            Control1..1
                                                                                            This element is affected by the following invariants: ele-1
                                                                                            BindingUnless not suitable, these codes SHALL be taken from LOINC Answer List LL378-1
                                                                                            (extensible to http://loinc.org/vs/LL378-1)
                                                                                            TypeCodeableConcept
                                                                                            [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                                            Summarytrue
                                                                                            Requirements

                                                                                            An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                            538. Observation.component:genomic-source-class.dataAbsentReason
                                                                                            Definition

                                                                                            Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                                            ShortWhy the component result is missing
                                                                                            Comments

                                                                                            "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                                            The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                                            Control0..1
                                                                                            This element is affected by the following invariants: ele-1, obs-6
                                                                                            BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                                            (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                                            Codes specifying why the result (Observation.value[x]) is missing.

                                                                                            TypeCodeableConcept
                                                                                            Requirements

                                                                                            For many results it is necessary to handle exceptional values in measurements.

                                                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                            540. Observation.component:genomic-source-class.interpretation
                                                                                            Definition

                                                                                            A categorical assessment of an observation value. For example, high, low, normal.

                                                                                            ShortHigh, low, normal, etc.
                                                                                            Comments

                                                                                            Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                                            Control0..*
                                                                                            This element is affected by the following invariants: ele-1
                                                                                            BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                                            (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                                            Codes identifying interpretations of observations.

                                                                                            TypeCodeableConcept
                                                                                            Requirements

                                                                                            For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                                            Alternate NamesAbnormal Flag
                                                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                            542. Observation.component:genomic-source-class.referenceRange
                                                                                            Definition

                                                                                            Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                                            ShortProvides guide for interpretation of component result
                                                                                            Comments

                                                                                            Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                                            Control0..*
                                                                                            TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                                            Requirements

                                                                                            Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                                            544. Observation.component:sample-allelic-frequency
                                                                                            Slice Namesample-allelic-frequency
                                                                                            Definition

                                                                                            Die Häufigkeit des varianten Allels in der untersuchten Probe

                                                                                            ShortAllelfrequenz in der Probe
                                                                                            Comments

                                                                                            For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                                            Control0..1
                                                                                            This element is affected by the following invariants: ele-1
                                                                                            TypeBackboneElement
                                                                                            Must Supporttrue
                                                                                            Summarytrue
                                                                                            Requirements

                                                                                            Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                            546. Observation.component:sample-allelic-frequency.id
                                                                                            Definition

                                                                                            Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                                            ShortUnique id for inter-element referencing
                                                                                            Control0..1
                                                                                            Typestring
                                                                                            XML FormatIn the XML format, this property is represented as an attribute.
                                                                                            548. Observation.component:sample-allelic-frequency.extension
                                                                                            Definition

                                                                                            May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                                            ShortAdditional content defined by implementations
                                                                                            Comments

                                                                                            There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                            Control0..*
                                                                                            This element is affected by the following invariants: ele-1
                                                                                            TypeExtension
                                                                                            Alternate Namesextensions, user content
                                                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                            ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                            SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                                            • value @ url
                                                                                            • 550. Observation.component:sample-allelic-frequency.modifierExtension
                                                                                              Definition

                                                                                              May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                                              Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                                              ShortExtensions that cannot be ignored even if unrecognized
                                                                                              Comments

                                                                                              There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                              Control0..*
                                                                                              This element is affected by the following invariants: ele-1
                                                                                              TypeExtension
                                                                                              Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                                              Summarytrue
                                                                                              Requirements

                                                                                              Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                                              Alternate Namesextensions, user content, modifiers
                                                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                              ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                              552. Observation.component:sample-allelic-frequency.code
                                                                                              Definition

                                                                                              Describes what was observed. Sometimes this is called the observation "code".

                                                                                              Short81258-6
                                                                                              Comments

                                                                                              All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                                              Control1..1
                                                                                              This element is affected by the following invariants: ele-1
                                                                                              BindingFor example codes, see LOINCCodes
                                                                                              (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                                              Codes identifying names of simple observations.

                                                                                              TypeCodeableConcept
                                                                                              Summarytrue
                                                                                              Requirements

                                                                                              Knowing what kind of observation is being made is essential to understanding the observation.

                                                                                              Pattern Value{
                                                                                                "coding" : [{
                                                                                                  "system" : "http://loinc.org",
                                                                                                  "code" : "81258-6"
                                                                                                }]
                                                                                              }
                                                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                              554. Observation.component:sample-allelic-frequency.value[x]
                                                                                              Definition

                                                                                              The information determined as a result of making the observation, if the information has a simple value.

                                                                                              ShortRelative frequency in the sample
                                                                                              Comments

                                                                                              Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                                              Control0..1
                                                                                              This element is affected by the following invariants: ele-1
                                                                                              TypeQuantity
                                                                                              [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                                              Summarytrue
                                                                                              Requirements

                                                                                              An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                              556. Observation.component:sample-allelic-frequency.value[x].id
                                                                                              Definition

                                                                                              Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                                              ShortUnique id for inter-element referencing
                                                                                              Control0..1
                                                                                              Typestring
                                                                                              XML FormatIn the XML format, this property is represented as an attribute.
                                                                                              558. Observation.component:sample-allelic-frequency.value[x].extension
                                                                                              Definition

                                                                                              May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                                              ShortAdditional content defined by implementations
                                                                                              Comments

                                                                                              There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                              Control0..*
                                                                                              This element is affected by the following invariants: ele-1
                                                                                              TypeExtension
                                                                                              Alternate Namesextensions, user content
                                                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                              ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                              SlicingThis element introduces a set of slices on Observation.component.value[x].extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                                              • value @ url
                                                                                              • 560. Observation.component:sample-allelic-frequency.value[x].value
                                                                                                Definition

                                                                                                The value of the measured amount. The value includes an implicit precision in the presentation of the value.

                                                                                                ShortNumerical value (with implicit precision)
                                                                                                Comments

                                                                                                The implicit precision in the value should always be honored. Monetary values have their own rules for handling precision (refer to standard accounting text books).

                                                                                                Control0..1
                                                                                                This element is affected by the following invariants: ele-1
                                                                                                Typedecimal
                                                                                                Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                                                Summarytrue
                                                                                                Requirements

                                                                                                Precision is handled implicitly in almost all cases of measurement.

                                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                562. Observation.component:sample-allelic-frequency.value[x].comparator
                                                                                                Definition

                                                                                                How the value should be understood and represented - whether the actual value is greater or less than the stated value due to measurement issues; e.g. if the comparator is "<" , then the real value is < stated value.

                                                                                                Short< | <= | >= | > - how to understand the value
                                                                                                Comments

                                                                                                Note that FHIR strings SHALL NOT exceed 1MB in size

                                                                                                Control0..1
                                                                                                This element is affected by the following invariants: ele-1
                                                                                                BindingThe codes SHALL be taken from QuantityComparator
                                                                                                (required to http://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1)

                                                                                                How the Quantity should be understood and represented.

                                                                                                Typecode
                                                                                                Is Modifiertrue because This is labeled as "Is Modifier" because the comparator modifies the interpretation of the value significantly. If there is no comparator, then there is no modification of the value
                                                                                                Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                                                Summarytrue
                                                                                                Requirements

                                                                                                Need a framework for handling measures where the value is <5ug/L or >400mg/L due to the limitations of measuring methodology.

                                                                                                Meaning if MissingIf there is no comparator, then there is no modification of the value
                                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                564. Observation.component:sample-allelic-frequency.value[x].unit
                                                                                                Definition

                                                                                                A human-readable form of the unit.

                                                                                                ShortUnit representation
                                                                                                Comments

                                                                                                Note that FHIR strings SHALL NOT exceed 1MB in size

                                                                                                Control0..1
                                                                                                This element is affected by the following invariants: ele-1
                                                                                                Typestring
                                                                                                Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                                                Summarytrue
                                                                                                Requirements

                                                                                                There are many representations for units of measure and in many contexts, particular representations are fixed and required. I.e. mcg for micrograms.

                                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                566. Observation.component:sample-allelic-frequency.value[x].system
                                                                                                Definition

                                                                                                The identification of the system that provides the coded form of the unit.

                                                                                                ShortSystem that defines coded unit form
                                                                                                Comments

                                                                                                see http://en.wikipedia.org/wiki/Uniform_resource_identifier

                                                                                                Control0..1
                                                                                                This element is affected by the following invariants: ele-1, qty-3
                                                                                                Typeuri
                                                                                                Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                                                Summarytrue
                                                                                                Requirements

                                                                                                Need to know the system that defines the coded form of the unit.

                                                                                                Pattern Valuehttp://unitsofmeasure.org
                                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                568. Observation.component:sample-allelic-frequency.value[x].code
                                                                                                Definition

                                                                                                A computer processable form of the unit in some unit representation system.

                                                                                                ShortCoded form of the unit
                                                                                                Comments

                                                                                                The preferred system is UCUM, but SNOMED CT can also be used (for customary units) or ISO 4217 for currency. The context of use may additionally require a code from a particular system.

                                                                                                Control0..1
                                                                                                This element is affected by the following invariants: ele-1
                                                                                                Typecode
                                                                                                Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                                                Summarytrue
                                                                                                Requirements

                                                                                                Need a computable form of the unit that is fixed across all forms. UCUM provides this for quantities, but SNOMED CT provides many units of interest.

                                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                570. Observation.component:sample-allelic-frequency.dataAbsentReason
                                                                                                Definition

                                                                                                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                                                ShortWhy the component result is missing
                                                                                                Comments

                                                                                                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                                                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                                                Control0..1
                                                                                                This element is affected by the following invariants: ele-1, obs-6
                                                                                                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                                                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                                                Codes specifying why the result (Observation.value[x]) is missing.

                                                                                                TypeCodeableConcept
                                                                                                Requirements

                                                                                                For many results it is necessary to handle exceptional values in measurements.

                                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                572. Observation.component:sample-allelic-frequency.interpretation
                                                                                                Definition

                                                                                                A categorical assessment of an observation value. For example, high, low, normal.

                                                                                                ShortHigh, low, normal, etc.
                                                                                                Comments

                                                                                                Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                                                Control0..*
                                                                                                This element is affected by the following invariants: ele-1
                                                                                                BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                                                (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                                                Codes identifying interpretations of observations.

                                                                                                TypeCodeableConcept
                                                                                                Requirements

                                                                                                For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                                                Alternate NamesAbnormal Flag
                                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                574. Observation.component:sample-allelic-frequency.referenceRange
                                                                                                Definition

                                                                                                Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                                                ShortProvides guide for interpretation of component result
                                                                                                Comments

                                                                                                Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                                                Control0..*
                                                                                                TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                                                Requirements

                                                                                                Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                                                576. Observation.component:allelic-read-depth
                                                                                                Slice Nameallelic-read-depth
                                                                                                Definition

                                                                                                Die Anzahl der Reads die das Allel unterstützen

                                                                                                ShortAllelische Lesetiefe
                                                                                                Comments

                                                                                                See here for usage guidance.

                                                                                                Control0..1
                                                                                                This element is affected by the following invariants: ele-1
                                                                                                TypeBackboneElement
                                                                                                Must Supporttrue
                                                                                                Summarytrue
                                                                                                Requirements

                                                                                                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                578. Observation.component:allelic-read-depth.id
                                                                                                Definition

                                                                                                Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                                                ShortUnique id for inter-element referencing
                                                                                                Control0..1
                                                                                                Typestring
                                                                                                XML FormatIn the XML format, this property is represented as an attribute.
                                                                                                580. Observation.component:allelic-read-depth.extension
                                                                                                Definition

                                                                                                May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                                                ShortAdditional content defined by implementations
                                                                                                Comments

                                                                                                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                Control0..*
                                                                                                This element is affected by the following invariants: ele-1
                                                                                                TypeExtension
                                                                                                Alternate Namesextensions, user content
                                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                                                • value @ url
                                                                                                • 582. Observation.component:allelic-read-depth.modifierExtension
                                                                                                  Definition

                                                                                                  May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                                                  Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                                                  ShortExtensions that cannot be ignored even if unrecognized
                                                                                                  Comments

                                                                                                  There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                  Control0..*
                                                                                                  This element is affected by the following invariants: ele-1
                                                                                                  TypeExtension
                                                                                                  Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                                                  Summarytrue
                                                                                                  Requirements

                                                                                                  Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                                                  Alternate Namesextensions, user content, modifiers
                                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                  ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                  584. Observation.component:allelic-read-depth.code
                                                                                                  Definition

                                                                                                  Describes what was observed. Sometimes this is called the observation "code".

                                                                                                  Short82121-5
                                                                                                  Comments

                                                                                                  All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                                                  Control1..1
                                                                                                  This element is affected by the following invariants: ele-1
                                                                                                  BindingFor example codes, see LOINCCodes
                                                                                                  (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                                                  Codes identifying names of simple observations.

                                                                                                  TypeCodeableConcept
                                                                                                  Summarytrue
                                                                                                  Requirements

                                                                                                  Knowing what kind of observation is being made is essential to understanding the observation.

                                                                                                  Pattern Value{
                                                                                                    "coding" : [{
                                                                                                      "system" : "http://loinc.org",
                                                                                                      "code" : "82121-5"
                                                                                                    }]
                                                                                                  }
                                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                  586. Observation.component:allelic-read-depth.value[x]
                                                                                                  Definition

                                                                                                  The information determined as a result of making the observation, if the information has a simple value.

                                                                                                  ShortUnfiltered count of supporting reads
                                                                                                  Comments

                                                                                                  Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                                                  Control0..1
                                                                                                  This element is affected by the following invariants: ele-1
                                                                                                  TypeQuantity
                                                                                                  [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                                                  Summarytrue
                                                                                                  Requirements

                                                                                                  An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                  588. Observation.component:allelic-read-depth.dataAbsentReason
                                                                                                  Definition

                                                                                                  Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                                                  ShortWhy the component result is missing
                                                                                                  Comments

                                                                                                  "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                                                  The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                                                  Control0..1
                                                                                                  This element is affected by the following invariants: ele-1, obs-6
                                                                                                  BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                                                  (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                                                  Codes specifying why the result (Observation.value[x]) is missing.

                                                                                                  TypeCodeableConcept
                                                                                                  Requirements

                                                                                                  For many results it is necessary to handle exceptional values in measurements.

                                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                  590. Observation.component:allelic-read-depth.interpretation
                                                                                                  Definition

                                                                                                  A categorical assessment of an observation value. For example, high, low, normal.

                                                                                                  ShortHigh, low, normal, etc.
                                                                                                  Comments

                                                                                                  Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                                                  Control0..*
                                                                                                  This element is affected by the following invariants: ele-1
                                                                                                  BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                                                  (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                                                  Codes identifying interpretations of observations.

                                                                                                  TypeCodeableConcept
                                                                                                  Requirements

                                                                                                  For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                                                  Alternate NamesAbnormal Flag
                                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                  592. Observation.component:allelic-read-depth.referenceRange
                                                                                                  Definition

                                                                                                  Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                                                  ShortProvides guide for interpretation of component result
                                                                                                  Comments

                                                                                                  Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                                                  Control0..*
                                                                                                  TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                                                  Requirements

                                                                                                  Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                                                  594. Observation.component:allelic-state
                                                                                                  Slice Nameallelic-state
                                                                                                  Definition

                                                                                                  Der Allelstatus wie z.B. heterozygot oder homozygot

                                                                                                  ShortAllelstatus
                                                                                                  Comments

                                                                                                  For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                                                  Control0..1
                                                                                                  This element is affected by the following invariants: ele-1
                                                                                                  TypeBackboneElement
                                                                                                  Must Supporttrue
                                                                                                  Summarytrue
                                                                                                  Requirements

                                                                                                  Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                  596. Observation.component:allelic-state.id
                                                                                                  Definition

                                                                                                  Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                                                  ShortUnique id for inter-element referencing
                                                                                                  Control0..1
                                                                                                  Typestring
                                                                                                  XML FormatIn the XML format, this property is represented as an attribute.
                                                                                                  598. Observation.component:allelic-state.extension
                                                                                                  Definition

                                                                                                  May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                                                  ShortAdditional content defined by implementations
                                                                                                  Comments

                                                                                                  There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                  Control0..*
                                                                                                  This element is affected by the following invariants: ele-1
                                                                                                  TypeExtension
                                                                                                  Alternate Namesextensions, user content
                                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                  ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                  SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                                                  • value @ url
                                                                                                  • 600. Observation.component:allelic-state.modifierExtension
                                                                                                    Definition

                                                                                                    May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                                                    Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                                                    ShortExtensions that cannot be ignored even if unrecognized
                                                                                                    Comments

                                                                                                    There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                    Control0..*
                                                                                                    This element is affected by the following invariants: ele-1
                                                                                                    TypeExtension
                                                                                                    Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                                                    Summarytrue
                                                                                                    Requirements

                                                                                                    Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                                                    Alternate Namesextensions, user content, modifiers
                                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                    ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                    602. Observation.component:allelic-state.code
                                                                                                    Definition

                                                                                                    Describes what was observed. Sometimes this is called the observation "code".

                                                                                                    Short53034-5
                                                                                                    Comments

                                                                                                    All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                                                    Control1..1
                                                                                                    This element is affected by the following invariants: ele-1
                                                                                                    BindingFor example codes, see LOINCCodes
                                                                                                    (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                                                    Codes identifying names of simple observations.

                                                                                                    TypeCodeableConcept
                                                                                                    Summarytrue
                                                                                                    Requirements

                                                                                                    Knowing what kind of observation is being made is essential to understanding the observation.

                                                                                                    Pattern Value{
                                                                                                      "coding" : [{
                                                                                                        "system" : "http://loinc.org",
                                                                                                        "code" : "53034-5"
                                                                                                      }]
                                                                                                    }
                                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                    604. Observation.component:allelic-state.value[x]
                                                                                                    Definition

                                                                                                    The information determined as a result of making the observation, if the information has a simple value.

                                                                                                    ShortHeteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous
                                                                                                    Comments

                                                                                                    Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                                                    Control1..1
                                                                                                    This element is affected by the following invariants: ele-1
                                                                                                    BindingUnless not suitable, these codes SHALL be taken from LOINC Answer List LL381-5
                                                                                                    (extensible to http://loinc.org/vs/LL381-5)
                                                                                                    TypeCodeableConcept
                                                                                                    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                                                    Summarytrue
                                                                                                    Requirements

                                                                                                    An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                    606. Observation.component:allelic-state.dataAbsentReason
                                                                                                    Definition

                                                                                                    Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                                                    ShortWhy the component result is missing
                                                                                                    Comments

                                                                                                    "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                                                    The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                                                    Control0..1
                                                                                                    This element is affected by the following invariants: ele-1, obs-6
                                                                                                    BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                                                    (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                                                    Codes specifying why the result (Observation.value[x]) is missing.

                                                                                                    TypeCodeableConcept
                                                                                                    Requirements

                                                                                                    For many results it is necessary to handle exceptional values in measurements.

                                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                    608. Observation.component:allelic-state.interpretation
                                                                                                    Definition

                                                                                                    A categorical assessment of an observation value. For example, high, low, normal.

                                                                                                    ShortHigh, low, normal, etc.
                                                                                                    Comments

                                                                                                    Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                                                    Control0..*
                                                                                                    This element is affected by the following invariants: ele-1
                                                                                                    BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                                                    (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                                                    Codes identifying interpretations of observations.

                                                                                                    TypeCodeableConcept
                                                                                                    Requirements

                                                                                                    For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                                                    Alternate NamesAbnormal Flag
                                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                    610. Observation.component:allelic-state.referenceRange
                                                                                                    Definition

                                                                                                    Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                                                    ShortProvides guide for interpretation of component result
                                                                                                    Comments

                                                                                                    Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                                                    Control0..*
                                                                                                    TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                                                    Requirements

                                                                                                    Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                                                    612. Observation.component:variant-inheritance
                                                                                                    Slice Namevariant-inheritance
                                                                                                    Definition

                                                                                                    Die Vererbungsart der Variante wie z.B. maternal oder paternal

                                                                                                    ShortVarianten-Vererbung
                                                                                                    Comments

                                                                                                    For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                                                    Control0..1
                                                                                                    This element is affected by the following invariants: ele-1
                                                                                                    TypeBackboneElement
                                                                                                    Must Supporttrue
                                                                                                    Summarytrue
                                                                                                    Requirements

                                                                                                    Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                    614. Observation.component:variant-inheritance.id
                                                                                                    Definition

                                                                                                    Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                                                    ShortUnique id for inter-element referencing
                                                                                                    Control0..1
                                                                                                    Typestring
                                                                                                    XML FormatIn the XML format, this property is represented as an attribute.
                                                                                                    616. Observation.component:variant-inheritance.extension
                                                                                                    Definition

                                                                                                    May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                                                    ShortAdditional content defined by implementations
                                                                                                    Comments

                                                                                                    There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                    Control0..*
                                                                                                    This element is affected by the following invariants: ele-1
                                                                                                    TypeExtension
                                                                                                    Alternate Namesextensions, user content
                                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                    ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                    SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                                                    • value @ url
                                                                                                    • 618. Observation.component:variant-inheritance.modifierExtension
                                                                                                      Definition

                                                                                                      May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                                                      Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                                                      ShortExtensions that cannot be ignored even if unrecognized
                                                                                                      Comments

                                                                                                      There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                      Control0..*
                                                                                                      This element is affected by the following invariants: ele-1
                                                                                                      TypeExtension
                                                                                                      Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                                                      Summarytrue
                                                                                                      Requirements

                                                                                                      Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                                                      Alternate Namesextensions, user content, modifiers
                                                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                      620. Observation.component:variant-inheritance.code
                                                                                                      Definition

                                                                                                      Describes what was observed. Sometimes this is called the observation "code".

                                                                                                      Short94186-4
                                                                                                      Comments

                                                                                                      All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                                                      Control1..1
                                                                                                      This element is affected by the following invariants: ele-1
                                                                                                      BindingFor example codes, see LOINCCodes
                                                                                                      (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                                                      Codes identifying names of simple observations.

                                                                                                      TypeCodeableConcept
                                                                                                      Summarytrue
                                                                                                      Requirements

                                                                                                      Knowing what kind of observation is being made is essential to understanding the observation.

                                                                                                      Pattern Value{
                                                                                                        "coding" : [{
                                                                                                          "system" : "http://loinc.org",
                                                                                                          "code" : "94186-4"
                                                                                                        }]
                                                                                                      }
                                                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                      622. Observation.component:variant-inheritance.value[x]
                                                                                                      Definition

                                                                                                      The information determined as a result of making the observation, if the information has a simple value.

                                                                                                      ShortMaternal | Paternal | Unknown
                                                                                                      Comments

                                                                                                      Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                                                      Control1..1
                                                                                                      This element is affected by the following invariants: ele-1
                                                                                                      BindingUnless not suitable, these codes SHALL be taken from LOINC Answer List LL5489-1
                                                                                                      (extensible to http://loinc.org/vs/LL5489-1)
                                                                                                      TypeCodeableConcept
                                                                                                      [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                                                      Summarytrue
                                                                                                      Requirements

                                                                                                      An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                      624. Observation.component:variant-inheritance.dataAbsentReason
                                                                                                      Definition

                                                                                                      Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                                                      ShortWhy the component result is missing
                                                                                                      Comments

                                                                                                      "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                                                      The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                                                      Control0..1
                                                                                                      This element is affected by the following invariants: ele-1, obs-6
                                                                                                      BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                                                      (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                                                      Codes specifying why the result (Observation.value[x]) is missing.

                                                                                                      TypeCodeableConcept
                                                                                                      Requirements

                                                                                                      For many results it is necessary to handle exceptional values in measurements.

                                                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                      626. Observation.component:variant-inheritance.interpretation
                                                                                                      Definition

                                                                                                      A categorical assessment of an observation value. For example, high, low, normal.

                                                                                                      ShortHigh, low, normal, etc.
                                                                                                      Comments

                                                                                                      Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                                                      Control0..*
                                                                                                      This element is affected by the following invariants: ele-1
                                                                                                      BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                                                      (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                                                      Codes identifying interpretations of observations.

                                                                                                      TypeCodeableConcept
                                                                                                      Requirements

                                                                                                      For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                                                      Alternate NamesAbnormal Flag
                                                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                      628. Observation.component:variant-inheritance.referenceRange
                                                                                                      Definition

                                                                                                      Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                                                      ShortProvides guide for interpretation of component result
                                                                                                      Comments

                                                                                                      Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                                                      Control0..*
                                                                                                      TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                                                      Requirements

                                                                                                      Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                                                      630. Observation.component:variant-inheritance-basis
                                                                                                      Slice Namevariant-inheritance-basis
                                                                                                      Definition

                                                                                                      The method by which the variant inheritance is determined.

                                                                                                      ShortEvidential basis for variant inheritance
                                                                                                      Comments

                                                                                                      For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                                                      Control0..1
                                                                                                      This element is affected by the following invariants: ele-1
                                                                                                      TypeBackboneElement
                                                                                                      Summarytrue
                                                                                                      Requirements

                                                                                                      Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                      632. Observation.component:variant-inheritance-basis.id
                                                                                                      Definition

                                                                                                      Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                                                      ShortUnique id for inter-element referencing
                                                                                                      Control0..1
                                                                                                      Typestring
                                                                                                      XML FormatIn the XML format, this property is represented as an attribute.
                                                                                                      634. Observation.component:variant-inheritance-basis.extension
                                                                                                      Definition

                                                                                                      May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                                                      ShortAdditional content defined by implementations
                                                                                                      Comments

                                                                                                      There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                      Control0..*
                                                                                                      This element is affected by the following invariants: ele-1
                                                                                                      TypeExtension
                                                                                                      Alternate Namesextensions, user content
                                                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                      SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                                                      • value @ url
                                                                                                      • 636. Observation.component:variant-inheritance-basis.modifierExtension
                                                                                                        Definition

                                                                                                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                                                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                                                        ShortExtensions that cannot be ignored even if unrecognized
                                                                                                        Comments

                                                                                                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                        Control0..*
                                                                                                        This element is affected by the following invariants: ele-1
                                                                                                        TypeExtension
                                                                                                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                                                        Summarytrue
                                                                                                        Requirements

                                                                                                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                                                        Alternate Namesextensions, user content, modifiers
                                                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                        638. Observation.component:variant-inheritance-basis.code
                                                                                                        Definition

                                                                                                        Describes what was observed. Sometimes this is called the observation "code".

                                                                                                        ShortBasis for allelic phase
                                                                                                        Comments

                                                                                                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                                                        Control1..1
                                                                                                        This element is affected by the following invariants: ele-1
                                                                                                        BindingFor example codes, see LOINCCodes
                                                                                                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                                                        Codes identifying names of simple observations.

                                                                                                        TypeCodeableConcept
                                                                                                        Summarytrue
                                                                                                        Requirements

                                                                                                        Knowing what kind of observation is being made is essential to understanding the observation.

                                                                                                        Pattern Value{
                                                                                                          "coding" : [{
                                                                                                            "system" : "http://loinc.org",
                                                                                                            "code" : "82309-6"
                                                                                                          }]
                                                                                                        }
                                                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                        640. Observation.component:variant-inheritance-basis.value[x]
                                                                                                        Definition

                                                                                                        The information determined as a result of making the observation, if the information has a simple value.

                                                                                                        ShortDirectly measured | Family DNA | Family history | Inferred from population data
                                                                                                        Comments

                                                                                                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                                                        Control1..1
                                                                                                        This element is affected by the following invariants: ele-1
                                                                                                        BindingUnless not suitable, these codes SHALL be taken from LOINC Answer List LL4050-2
                                                                                                        (extensible to http://loinc.org/vs/LL4050-2)
                                                                                                        TypeCodeableConcept
                                                                                                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                                                        Summarytrue
                                                                                                        Requirements

                                                                                                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                        642. Observation.component:variant-inheritance-basis.dataAbsentReason
                                                                                                        Definition

                                                                                                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                                                        ShortWhy the component result is missing
                                                                                                        Comments

                                                                                                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                                                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                                                        Control0..1
                                                                                                        This element is affected by the following invariants: ele-1, obs-6
                                                                                                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                                                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                                                        Codes specifying why the result (Observation.value[x]) is missing.

                                                                                                        TypeCodeableConcept
                                                                                                        Requirements

                                                                                                        For many results it is necessary to handle exceptional values in measurements.

                                                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                        644. Observation.component:variant-inheritance-basis.interpretation
                                                                                                        Definition

                                                                                                        A categorical assessment of an observation value. For example, high, low, normal.

                                                                                                        ShortHigh, low, normal, etc.
                                                                                                        Comments

                                                                                                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                                                        Control0..*
                                                                                                        This element is affected by the following invariants: ele-1
                                                                                                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                                                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                                                        Codes identifying interpretations of observations.

                                                                                                        TypeCodeableConcept
                                                                                                        Requirements

                                                                                                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                                                        Alternate NamesAbnormal Flag
                                                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                        646. Observation.component:variant-inheritance-basis.referenceRange
                                                                                                        Definition

                                                                                                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                                                        ShortProvides guide for interpretation of component result
                                                                                                        Comments

                                                                                                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                                                        Control0..*
                                                                                                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                                                        Requirements

                                                                                                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                                                        648. Observation.component:variation-code
                                                                                                        Slice Namevariation-code
                                                                                                        Definition

                                                                                                        Eindeutiger Identifikator der Variante aus externen Datenbanken wie z.B. ClinVar oder dbSNP

                                                                                                        ShortVarianten-Code
                                                                                                        Comments

                                                                                                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                                                        Control0..*
                                                                                                        This element is affected by the following invariants: ele-1
                                                                                                        TypeBackboneElement
                                                                                                        Must Supporttrue
                                                                                                        Summarytrue
                                                                                                        Requirements

                                                                                                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                        650. Observation.component:variation-code.id
                                                                                                        Definition

                                                                                                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                                                        ShortUnique id for inter-element referencing
                                                                                                        Control0..1
                                                                                                        Typestring
                                                                                                        XML FormatIn the XML format, this property is represented as an attribute.
                                                                                                        652. Observation.component:variation-code.extension
                                                                                                        Definition

                                                                                                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                                                        ShortAdditional content defined by implementations
                                                                                                        Comments

                                                                                                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                        Control0..*
                                                                                                        This element is affected by the following invariants: ele-1
                                                                                                        TypeExtension
                                                                                                        Alternate Namesextensions, user content
                                                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                        SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                                                        • value @ url
                                                                                                        • 654. Observation.component:variation-code.modifierExtension
                                                                                                          Definition

                                                                                                          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                                                          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                                                          ShortExtensions that cannot be ignored even if unrecognized
                                                                                                          Comments

                                                                                                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                          Control0..*
                                                                                                          This element is affected by the following invariants: ele-1
                                                                                                          TypeExtension
                                                                                                          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                                                          Summarytrue
                                                                                                          Requirements

                                                                                                          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                                                          Alternate Namesextensions, user content, modifiers
                                                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                          656. Observation.component:variation-code.code
                                                                                                          Definition

                                                                                                          Describes what was observed. Sometimes this is called the observation "code".

                                                                                                          Short81252-9
                                                                                                          Comments

                                                                                                          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                                                          Control1..1
                                                                                                          This element is affected by the following invariants: ele-1
                                                                                                          BindingFor example codes, see LOINCCodes
                                                                                                          (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                                                          Codes identifying names of simple observations.

                                                                                                          TypeCodeableConcept
                                                                                                          Summarytrue
                                                                                                          Requirements

                                                                                                          Knowing what kind of observation is being made is essential to understanding the observation.

                                                                                                          Pattern Value{
                                                                                                            "coding" : [{
                                                                                                              "system" : "http://loinc.org",
                                                                                                              "code" : "81252-9"
                                                                                                            }]
                                                                                                          }
                                                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                          658. Observation.component:variation-code.value[x]
                                                                                                          Definition

                                                                                                          The information determined as a result of making the observation, if the information has a simple value.

                                                                                                          ShortClinVar ID or similar
                                                                                                          Comments

                                                                                                          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                                                          Control1..1
                                                                                                          This element is affected by the following invariants: ele-1
                                                                                                          Binding

                                                                                                          Multiple bindings acceptable

                                                                                                          TypeCodeableConcept
                                                                                                          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                                                          Summarytrue
                                                                                                          Requirements

                                                                                                          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                          660. Observation.component:variation-code.dataAbsentReason
                                                                                                          Definition

                                                                                                          Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                                                          ShortWhy the component result is missing
                                                                                                          Comments

                                                                                                          "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                                                          The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                                                          Control0..1
                                                                                                          This element is affected by the following invariants: ele-1, obs-6
                                                                                                          BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                                                          (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                                                          Codes specifying why the result (Observation.value[x]) is missing.

                                                                                                          TypeCodeableConcept
                                                                                                          Requirements

                                                                                                          For many results it is necessary to handle exceptional values in measurements.

                                                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                          662. Observation.component:variation-code.interpretation
                                                                                                          Definition

                                                                                                          A categorical assessment of an observation value. For example, high, low, normal.

                                                                                                          ShortHigh, low, normal, etc.
                                                                                                          Comments

                                                                                                          Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                                                          Control0..*
                                                                                                          This element is affected by the following invariants: ele-1
                                                                                                          BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                                                          (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                                                          Codes identifying interpretations of observations.

                                                                                                          TypeCodeableConcept
                                                                                                          Requirements

                                                                                                          For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                                                          Alternate NamesAbnormal Flag
                                                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                          664. Observation.component:variation-code.referenceRange
                                                                                                          Definition

                                                                                                          Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                                                          ShortProvides guide for interpretation of component result
                                                                                                          Comments

                                                                                                          Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                                                          Control0..*
                                                                                                          TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                                                          Requirements

                                                                                                          Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                                                          666. Observation.component:representative-protein-hgvs
                                                                                                          Slice Namerepresentative-protein-hgvs
                                                                                                          Definition

                                                                                                          Die Aminosäure-Änderung in HGVS-Nomenklatur auf Proteinebene

                                                                                                          ShortAminosäure-Änderung p.HGVS
                                                                                                          Comments

                                                                                                          For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                                                          Control0..1
                                                                                                          This element is affected by the following invariants: ele-1
                                                                                                          TypeBackboneElement
                                                                                                          Must Supporttrue
                                                                                                          Summarytrue
                                                                                                          Requirements

                                                                                                          Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                          668. Observation.component:representative-protein-hgvs.id
                                                                                                          Definition

                                                                                                          Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                                                          ShortUnique id for inter-element referencing
                                                                                                          Control0..1
                                                                                                          Typestring
                                                                                                          XML FormatIn the XML format, this property is represented as an attribute.
                                                                                                          670. Observation.component:representative-protein-hgvs.extension
                                                                                                          Definition

                                                                                                          May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                                                          ShortAdditional content defined by implementations
                                                                                                          Comments

                                                                                                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                          Control0..*
                                                                                                          This element is affected by the following invariants: ele-1
                                                                                                          TypeExtension
                                                                                                          Alternate Namesextensions, user content
                                                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                          SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                                                          • value @ url
                                                                                                          • 672. Observation.component:representative-protein-hgvs.modifierExtension
                                                                                                            Definition

                                                                                                            May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                                                            Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                                                            ShortExtensions that cannot be ignored even if unrecognized
                                                                                                            Comments

                                                                                                            There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                            Control0..*
                                                                                                            This element is affected by the following invariants: ele-1
                                                                                                            TypeExtension
                                                                                                            Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                                                            Summarytrue
                                                                                                            Requirements

                                                                                                            Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                                                            Alternate Namesextensions, user content, modifiers
                                                                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                            ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                            674. Observation.component:representative-protein-hgvs.code
                                                                                                            Definition

                                                                                                            Describes what was observed. Sometimes this is called the observation "code".

                                                                                                            Short48005-3
                                                                                                            Comments

                                                                                                            All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                                                            Control1..1
                                                                                                            This element is affected by the following invariants: ele-1
                                                                                                            BindingFor example codes, see LOINCCodes
                                                                                                            (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                                                            Codes identifying names of simple observations.

                                                                                                            TypeCodeableConcept
                                                                                                            Summarytrue
                                                                                                            Requirements

                                                                                                            Knowing what kind of observation is being made is essential to understanding the observation.

                                                                                                            Pattern Value{
                                                                                                              "coding" : [{
                                                                                                                "system" : "http://loinc.org",
                                                                                                                "code" : "48005-3"
                                                                                                              }]
                                                                                                            }
                                                                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                            676. Observation.component:representative-protein-hgvs.value[x]
                                                                                                            Definition

                                                                                                            The information determined as a result of making the observation, if the information has a simple value.

                                                                                                            ShortA valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys)
                                                                                                            Comments

                                                                                                            Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                                                            Control1..1
                                                                                                            This element is affected by the following invariants: ele-1
                                                                                                            BindingThe codes SHALL be taken from Human Genome Variation Society (HGVS) Nomenclature
                                                                                                            (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs)
                                                                                                            TypeCodeableConcept
                                                                                                            [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                                                            Summarytrue
                                                                                                            Requirements

                                                                                                            An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                            678. Observation.component:representative-protein-hgvs.dataAbsentReason
                                                                                                            Definition

                                                                                                            Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                                                            ShortWhy the component result is missing
                                                                                                            Comments

                                                                                                            "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                                                            The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                                                            Control0..1
                                                                                                            This element is affected by the following invariants: ele-1, obs-6
                                                                                                            BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                                                            (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                                                            Codes specifying why the result (Observation.value[x]) is missing.

                                                                                                            TypeCodeableConcept
                                                                                                            Requirements

                                                                                                            For many results it is necessary to handle exceptional values in measurements.

                                                                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                            680. Observation.component:representative-protein-hgvs.interpretation
                                                                                                            Definition

                                                                                                            A categorical assessment of an observation value. For example, high, low, normal.

                                                                                                            ShortHigh, low, normal, etc.
                                                                                                            Comments

                                                                                                            Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                                                            Control0..*
                                                                                                            This element is affected by the following invariants: ele-1
                                                                                                            BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                                                            (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                                                            Codes identifying interpretations of observations.

                                                                                                            TypeCodeableConcept
                                                                                                            Requirements

                                                                                                            For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                                                            Alternate NamesAbnormal Flag
                                                                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                            682. Observation.component:representative-protein-hgvs.referenceRange
                                                                                                            Definition

                                                                                                            Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                                                            ShortProvides guide for interpretation of component result
                                                                                                            Comments

                                                                                                            Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                                                            Control0..*
                                                                                                            TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                                                            Requirements

                                                                                                            Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                                                            684. Observation.component:copy-number
                                                                                                            Slice Namecopy-number
                                                                                                            Definition

                                                                                                            Die Anzahl der Kopien eines genomischen Abschnitts

                                                                                                            ShortKopienzahl
                                                                                                            Comments

                                                                                                            Copy number variants are often described with a single copy number value. However, due to the nature of assays, such as qPCR and microarray, it can be difficult to assign an exact copy number. Therefore, labs sometimes report a range instead of an exact copy number. They may alternatively choose to report decimal numbers, even if whole numbers are biologically correct.

                                                                                                            In general, it can be difficult to estimate a copy number from measurements taken on a heterogenous population of cells, such as a tumor. As indicated in the ISCN 2020 specifications, it is appropriate to express the measurements using a range. Furthermore, regardless of cell population, many assays use fluorescent probes to detect copy number. These testing methodologies do not always provide an exact, discrete value for this data point.

                                                                                                            Control0..1
                                                                                                            This element is affected by the following invariants: ele-1
                                                                                                            TypeBackboneElement
                                                                                                            Must Supporttrue
                                                                                                            Summarytrue
                                                                                                            Requirements

                                                                                                            There SHALL be a code with a value of '1' if there is a value. If system is present, it SHALL be UCUM.

                                                                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                            686. Observation.component:copy-number.id
                                                                                                            Definition

                                                                                                            Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                                                            ShortUnique id for inter-element referencing
                                                                                                            Control0..1
                                                                                                            Typestring
                                                                                                            XML FormatIn the XML format, this property is represented as an attribute.
                                                                                                            688. Observation.component:copy-number.extension
                                                                                                            Definition

                                                                                                            May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                                                            ShortAdditional content defined by implementations
                                                                                                            Comments

                                                                                                            There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                            Control0..*
                                                                                                            This element is affected by the following invariants: ele-1
                                                                                                            TypeExtension
                                                                                                            Alternate Namesextensions, user content
                                                                                                            Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                            ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                            SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                                                            • value @ url
                                                                                                            • 690. Observation.component:copy-number.modifierExtension
                                                                                                              Definition

                                                                                                              May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                                                              Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                                                              ShortExtensions that cannot be ignored even if unrecognized
                                                                                                              Comments

                                                                                                              There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                              Control0..*
                                                                                                              This element is affected by the following invariants: ele-1
                                                                                                              TypeExtension
                                                                                                              Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                                                              Summarytrue
                                                                                                              Requirements

                                                                                                              Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                                                              Alternate Namesextensions, user content, modifiers
                                                                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                              ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                              692. Observation.component:copy-number.code
                                                                                                              Definition

                                                                                                              Describes what was observed. Sometimes this is called the observation "code".

                                                                                                              Short82155-3
                                                                                                              Comments

                                                                                                              All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                                                              Control1..1
                                                                                                              This element is affected by the following invariants: ele-1
                                                                                                              BindingFor example codes, see LOINCCodes
                                                                                                              (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                                                              Codes identifying names of simple observations.

                                                                                                              TypeCodeableConcept
                                                                                                              Summarytrue
                                                                                                              Requirements

                                                                                                              Knowing what kind of observation is being made is essential to understanding the observation.

                                                                                                              Pattern Value{
                                                                                                                "coding" : [{
                                                                                                                  "system" : "http://loinc.org",
                                                                                                                  "code" : "82155-3"
                                                                                                                }]
                                                                                                              }
                                                                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                              694. Observation.component:copy-number.value[x]
                                                                                                              Definition

                                                                                                              The information determined as a result of making the observation, if the information has a simple value.

                                                                                                              ShortActual component result
                                                                                                              Comments

                                                                                                              Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                                                              Control0..1
                                                                                                              This element is affected by the following invariants: ele-1
                                                                                                              TypeChoice of: Quantity, Range
                                                                                                              [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                                                              Summarytrue
                                                                                                              Requirements

                                                                                                              An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                              696. Observation.component:copy-number.dataAbsentReason
                                                                                                              Definition

                                                                                                              Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                                                              ShortWhy the component result is missing
                                                                                                              Comments

                                                                                                              "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                                                              The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                                                              Control0..1
                                                                                                              This element is affected by the following invariants: ele-1, obs-6
                                                                                                              BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                                                              (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                                                              Codes specifying why the result (Observation.value[x]) is missing.

                                                                                                              TypeCodeableConcept
                                                                                                              Requirements

                                                                                                              For many results it is necessary to handle exceptional values in measurements.

                                                                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                              698. Observation.component:copy-number.interpretation
                                                                                                              Definition

                                                                                                              A categorical assessment of an observation value. For example, high, low, normal.

                                                                                                              ShortHigh, low, normal, etc.
                                                                                                              Comments

                                                                                                              Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                                                              Control0..*
                                                                                                              This element is affected by the following invariants: ele-1
                                                                                                              BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                                                              (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                                                              Codes identifying interpretations of observations.

                                                                                                              TypeCodeableConcept
                                                                                                              Requirements

                                                                                                              For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                                                              Alternate NamesAbnormal Flag
                                                                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                              700. Observation.component:copy-number.referenceRange
                                                                                                              Definition

                                                                                                              Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                                                              ShortProvides guide for interpretation of component result
                                                                                                              Comments

                                                                                                              Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                                                              Control0..*
                                                                                                              TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                                                              Requirements

                                                                                                              Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                                                              702. Observation.component:variant-confidence-status
                                                                                                              Slice Namevariant-confidence-status
                                                                                                              Definition

                                                                                                              Der Vertrauensstatus der Variantendetektion

                                                                                                              ShortKonfidenzstatus der Variante
                                                                                                              Comments

                                                                                                              See here for usage guidance.

                                                                                                              Control0..1
                                                                                                              This element is affected by the following invariants: ele-1
                                                                                                              TypeBackboneElement
                                                                                                              Must Supporttrue
                                                                                                              Summarytrue
                                                                                                              Requirements

                                                                                                              Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                              704. Observation.component:variant-confidence-status.id
                                                                                                              Definition

                                                                                                              Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                                                              ShortUnique id for inter-element referencing
                                                                                                              Control0..1
                                                                                                              Typestring
                                                                                                              XML FormatIn the XML format, this property is represented as an attribute.
                                                                                                              706. Observation.component:variant-confidence-status.extension
                                                                                                              Definition

                                                                                                              May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                                                              ShortAdditional content defined by implementations
                                                                                                              Comments

                                                                                                              There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                              Control0..*
                                                                                                              This element is affected by the following invariants: ele-1
                                                                                                              TypeExtension
                                                                                                              Alternate Namesextensions, user content
                                                                                                              Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                              ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                              SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                                                              • value @ url
                                                                                                              • 708. Observation.component:variant-confidence-status.modifierExtension
                                                                                                                Definition

                                                                                                                May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                                                                Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                                                                ShortExtensions that cannot be ignored even if unrecognized
                                                                                                                Comments

                                                                                                                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                                Control0..*
                                                                                                                This element is affected by the following invariants: ele-1
                                                                                                                TypeExtension
                                                                                                                Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                                                                Summarytrue
                                                                                                                Requirements

                                                                                                                Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                                                                Alternate Namesextensions, user content, modifiers
                                                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                                710. Observation.component:variant-confidence-status.code
                                                                                                                Definition

                                                                                                                Describes what was observed. Sometimes this is called the observation "code".

                                                                                                                Shortvariant-confidence-status
                                                                                                                Comments

                                                                                                                All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                                                                Control1..1
                                                                                                                This element is affected by the following invariants: ele-1
                                                                                                                BindingFor example codes, see LOINCCodes
                                                                                                                (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                                                                Codes identifying names of simple observations.

                                                                                                                TypeCodeableConcept
                                                                                                                Summarytrue
                                                                                                                Requirements

                                                                                                                Knowing what kind of observation is being made is essential to understanding the observation.

                                                                                                                Pattern Value{
                                                                                                                  "coding" : [{
                                                                                                                    "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                                                                                                                    "code" : "variant-confidence-status"
                                                                                                                  }]
                                                                                                                }
                                                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                712. Observation.component:variant-confidence-status.value[x]
                                                                                                                Definition

                                                                                                                The information determined as a result of making the observation, if the information has a simple value.

                                                                                                                ShortHigh | Intermediate | Low
                                                                                                                Comments

                                                                                                                Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                                                                Control1..1
                                                                                                                This element is affected by the following invariants: ele-1
                                                                                                                BindingThe codes SHALL be taken from Variant Confidence Status
                                                                                                                (required to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs)
                                                                                                                TypeCodeableConcept
                                                                                                                [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                                                                Summarytrue
                                                                                                                Requirements

                                                                                                                An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                714. Observation.component:variant-confidence-status.dataAbsentReason
                                                                                                                Definition

                                                                                                                Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                                                                ShortWhy the component result is missing
                                                                                                                Comments

                                                                                                                "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                                                                The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                                                                Control0..1
                                                                                                                This element is affected by the following invariants: ele-1, obs-6
                                                                                                                BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                                                                (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                                                                Codes specifying why the result (Observation.value[x]) is missing.

                                                                                                                TypeCodeableConcept
                                                                                                                Requirements

                                                                                                                For many results it is necessary to handle exceptional values in measurements.

                                                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                716. Observation.component:variant-confidence-status.interpretation
                                                                                                                Definition

                                                                                                                A categorical assessment of an observation value. For example, high, low, normal.

                                                                                                                ShortHigh, low, normal, etc.
                                                                                                                Comments

                                                                                                                Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                                                                Control0..*
                                                                                                                This element is affected by the following invariants: ele-1
                                                                                                                BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                                                                (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                                                                Codes identifying interpretations of observations.

                                                                                                                TypeCodeableConcept
                                                                                                                Requirements

                                                                                                                For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                                                                Alternate NamesAbnormal Flag
                                                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                718. Observation.component:variant-confidence-status.referenceRange
                                                                                                                Definition

                                                                                                                Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                                                                ShortProvides guide for interpretation of component result
                                                                                                                Comments

                                                                                                                Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                                                                Control0..*
                                                                                                                TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                                                                Requirements

                                                                                                                Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                                                                720. Observation.component:repeat-motif
                                                                                                                Slice Namerepeat-motif
                                                                                                                Definition

                                                                                                                Nucleotides of a repeat expansion motif.

                                                                                                                ShortRepeat Motif
                                                                                                                Comments

                                                                                                                For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                                                                Control0..*
                                                                                                                This element is affected by the following invariants: ele-1
                                                                                                                TypeBackboneElement
                                                                                                                Summarytrue
                                                                                                                Requirements

                                                                                                                Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                722. Observation.component:repeat-motif.id
                                                                                                                Definition

                                                                                                                Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                                                                ShortUnique id for inter-element referencing
                                                                                                                Control0..1
                                                                                                                Typestring
                                                                                                                XML FormatIn the XML format, this property is represented as an attribute.
                                                                                                                724. Observation.component:repeat-motif.extension
                                                                                                                Definition

                                                                                                                May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                                                                ShortAdditional content defined by implementations
                                                                                                                Comments

                                                                                                                There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                                Control0..*
                                                                                                                This element is affected by the following invariants: ele-1
                                                                                                                TypeExtension
                                                                                                                Alternate Namesextensions, user content
                                                                                                                Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                                SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                                                                • value @ url
                                                                                                                • 726. Observation.component:repeat-motif.extension:repeat-motif-order
                                                                                                                  Slice Namerepeat-motif-order
                                                                                                                  Definition

                                                                                                                  Use to group and order repeat expansion motifs.

                                                                                                                  ShortRepeat Motif Order
                                                                                                                  Comments

                                                                                                                  If there are multiple repeat expansion pairs, this must be used both to indicate the sequence position of a given repeat-motif and repeat-number pair and to group the related components together. Components with the same extension value describe the same motif.

                                                                                                                  Control0..1
                                                                                                                  This element is affected by the following invariants: ele-1
                                                                                                                  TypeExtension(Repeat Motif Order) (Extension Type: positiveInt)
                                                                                                                  Requirements

                                                                                                                  The value must be a natural number starting from 1 and increasing sequentially

                                                                                                                  Alternate Namesextensions, user content
                                                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                  ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                                  728. Observation.component:repeat-motif.modifierExtension
                                                                                                                  Definition

                                                                                                                  May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                                                                  Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                                                                  ShortExtensions that cannot be ignored even if unrecognized
                                                                                                                  Comments

                                                                                                                  There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                                  Control0..*
                                                                                                                  This element is affected by the following invariants: ele-1
                                                                                                                  TypeExtension
                                                                                                                  Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                                                                  Summarytrue
                                                                                                                  Requirements

                                                                                                                  Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                                                                  Alternate Namesextensions, user content, modifiers
                                                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                  ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                                  730. Observation.component:repeat-motif.code
                                                                                                                  Definition

                                                                                                                  Describes what was observed. Sometimes this is called the observation "code".

                                                                                                                  Shortrepeat-motif
                                                                                                                  Comments

                                                                                                                  All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                                                                  Control1..1
                                                                                                                  This element is affected by the following invariants: ele-1
                                                                                                                  BindingFor example codes, see LOINCCodes
                                                                                                                  (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                                                                  Codes identifying names of simple observations.

                                                                                                                  TypeCodeableConcept
                                                                                                                  Summarytrue
                                                                                                                  Requirements

                                                                                                                  Knowing what kind of observation is being made is essential to understanding the observation.

                                                                                                                  Pattern Value{
                                                                                                                    "coding" : [{
                                                                                                                      "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                                                                                                                      "code" : "repeat-motif"
                                                                                                                    }]
                                                                                                                  }
                                                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                  732. Observation.component:repeat-motif.value[x]
                                                                                                                  Definition

                                                                                                                  The information determined as a result of making the observation, if the information has a simple value.

                                                                                                                  ShortCAG
                                                                                                                  Comments

                                                                                                                  Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                                                                  Control1..1
                                                                                                                  This element is affected by the following invariants: ele-1
                                                                                                                  Typestring
                                                                                                                  [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                                                                  Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                                                                  Summarytrue
                                                                                                                  Requirements

                                                                                                                  An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                  734. Observation.component:repeat-motif.dataAbsentReason
                                                                                                                  Definition

                                                                                                                  Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                                                                  ShortWhy the component result is missing
                                                                                                                  Comments

                                                                                                                  "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                                                                  The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                                                                  Control0..1
                                                                                                                  This element is affected by the following invariants: ele-1, obs-6
                                                                                                                  BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                                                                  (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                                                                  Codes specifying why the result (Observation.value[x]) is missing.

                                                                                                                  TypeCodeableConcept
                                                                                                                  Requirements

                                                                                                                  For many results it is necessary to handle exceptional values in measurements.

                                                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                  736. Observation.component:repeat-motif.interpretation
                                                                                                                  Definition

                                                                                                                  A categorical assessment of an observation value. For example, high, low, normal.

                                                                                                                  ShortHigh, low, normal, etc.
                                                                                                                  Comments

                                                                                                                  Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                                                                  Control0..*
                                                                                                                  This element is affected by the following invariants: ele-1
                                                                                                                  BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                                                                  (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                                                                  Codes identifying interpretations of observations.

                                                                                                                  TypeCodeableConcept
                                                                                                                  Requirements

                                                                                                                  For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                                                                  Alternate NamesAbnormal Flag
                                                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                  738. Observation.component:repeat-motif.referenceRange
                                                                                                                  Definition

                                                                                                                  Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                                                                  ShortProvides guide for interpretation of component result
                                                                                                                  Comments

                                                                                                                  Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                                                                  Control0..*
                                                                                                                  TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                                                                  Requirements

                                                                                                                  Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                                                                  740. Observation.component:repeat-number
                                                                                                                  Slice Namerepeat-number
                                                                                                                  Definition

                                                                                                                  Number of repeats of a repeat expansion.

                                                                                                                  ShortRepeat Number
                                                                                                                  Comments

                                                                                                                  For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                                                                  Control0..*
                                                                                                                  This element is affected by the following invariants: ele-1
                                                                                                                  TypeBackboneElement
                                                                                                                  Summarytrue
                                                                                                                  Requirements

                                                                                                                  Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                  742. Observation.component:repeat-number.id
                                                                                                                  Definition

                                                                                                                  Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                                                                  ShortUnique id for inter-element referencing
                                                                                                                  Control0..1
                                                                                                                  Typestring
                                                                                                                  XML FormatIn the XML format, this property is represented as an attribute.
                                                                                                                  744. Observation.component:repeat-number.extension
                                                                                                                  Definition

                                                                                                                  May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                                                                  ShortAdditional content defined by implementations
                                                                                                                  Comments

                                                                                                                  There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                                  Control0..*
                                                                                                                  This element is affected by the following invariants: ele-1
                                                                                                                  TypeExtension
                                                                                                                  Alternate Namesextensions, user content
                                                                                                                  Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                  ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                                  SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                                                                  • value @ url
                                                                                                                  • 746. Observation.component:repeat-number.extension:repeat-motif-order
                                                                                                                    Slice Namerepeat-motif-order
                                                                                                                    Definition

                                                                                                                    Use to group and order repeat expansion motifs.

                                                                                                                    ShortRepeat Motif Order
                                                                                                                    Comments

                                                                                                                    If there are multiple repeat expansion pairs, this must be used both to indicate the sequence position of a given repeat-motif and repeat-number pair and to group the related components together. Components with the same extension value describe the same motif.

                                                                                                                    Control0..1
                                                                                                                    This element is affected by the following invariants: ele-1
                                                                                                                    TypeExtension(Repeat Motif Order) (Extension Type: positiveInt)
                                                                                                                    Requirements

                                                                                                                    The value must be a natural number starting from 1 and increasing sequentially

                                                                                                                    Alternate Namesextensions, user content
                                                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                    ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                                    748. Observation.component:repeat-number.modifierExtension
                                                                                                                    Definition

                                                                                                                    May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                                                                    Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                                                                    ShortExtensions that cannot be ignored even if unrecognized
                                                                                                                    Comments

                                                                                                                    There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                                    Control0..*
                                                                                                                    This element is affected by the following invariants: ele-1
                                                                                                                    TypeExtension
                                                                                                                    Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                                                                    Summarytrue
                                                                                                                    Requirements

                                                                                                                    Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                                                                    Alternate Namesextensions, user content, modifiers
                                                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                    ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                                    750. Observation.component:repeat-number.code
                                                                                                                    Definition

                                                                                                                    Describes what was observed. Sometimes this is called the observation "code".

                                                                                                                    Shortrepeat-number
                                                                                                                    Comments

                                                                                                                    All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                                                                    Control1..1
                                                                                                                    This element is affected by the following invariants: ele-1
                                                                                                                    BindingFor example codes, see LOINCCodes
                                                                                                                    (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                                                                    Codes identifying names of simple observations.

                                                                                                                    TypeCodeableConcept
                                                                                                                    Summarytrue
                                                                                                                    Requirements

                                                                                                                    Knowing what kind of observation is being made is essential to understanding the observation.

                                                                                                                    Pattern Value{
                                                                                                                      "coding" : [{
                                                                                                                        "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                                                                                                                        "code" : "repeat-number"
                                                                                                                      }]
                                                                                                                    }
                                                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                    752. Observation.component:repeat-number.value[x]
                                                                                                                    Definition

                                                                                                                    The information determined as a result of making the observation, if the information has a simple value.

                                                                                                                    Short40
                                                                                                                    Comments

                                                                                                                    Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                                                                    Control1..1
                                                                                                                    This element is affected by the following invariants: ele-1
                                                                                                                    TypeQuantity
                                                                                                                    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                                                                    Summarytrue
                                                                                                                    Requirements

                                                                                                                    An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                    754. Observation.component:repeat-number.dataAbsentReason
                                                                                                                    Definition

                                                                                                                    Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                                                                    ShortWhy the component result is missing
                                                                                                                    Comments

                                                                                                                    "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                                                                    The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                                                                    Control0..1
                                                                                                                    This element is affected by the following invariants: ele-1, obs-6
                                                                                                                    BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                                                                    (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                                                                    Codes specifying why the result (Observation.value[x]) is missing.

                                                                                                                    TypeCodeableConcept
                                                                                                                    Requirements

                                                                                                                    For many results it is necessary to handle exceptional values in measurements.

                                                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                    756. Observation.component:repeat-number.interpretation
                                                                                                                    Definition

                                                                                                                    A categorical assessment of an observation value. For example, high, low, normal.

                                                                                                                    ShortHigh, low, normal, etc.
                                                                                                                    Comments

                                                                                                                    Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                                                                    Control0..*
                                                                                                                    This element is affected by the following invariants: ele-1
                                                                                                                    BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                                                                    (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                                                                    Codes identifying interpretations of observations.

                                                                                                                    TypeCodeableConcept
                                                                                                                    Requirements

                                                                                                                    For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                                                                    Alternate NamesAbnormal Flag
                                                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                    758. Observation.component:repeat-number.referenceRange
                                                                                                                    Definition

                                                                                                                    Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                                                                    ShortProvides guide for interpretation of component result
                                                                                                                    Comments

                                                                                                                    Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                                                                    Control0..*
                                                                                                                    TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                                                                    Requirements

                                                                                                                    Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                                                                    760. Observation.component:dna-region
                                                                                                                    Slice Namedna-region
                                                                                                                    Definition

                                                                                                                    Ein lesbarer Name für die untersuchte Region. Typischerweise Exon # oder Intron # oder andere.

                                                                                                                    ShortDNA-Regionsname
                                                                                                                    Comments

                                                                                                                    For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                                                                    Control0..*
                                                                                                                    This element is affected by the following invariants: ele-1
                                                                                                                    TypeBackboneElement
                                                                                                                    Must Supporttrue
                                                                                                                    Summarytrue
                                                                                                                    Requirements

                                                                                                                    Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                    762. Observation.component:dna-region.id
                                                                                                                    Definition

                                                                                                                    Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                                                                    ShortUnique id for inter-element referencing
                                                                                                                    Control0..1
                                                                                                                    Typestring
                                                                                                                    XML FormatIn the XML format, this property is represented as an attribute.
                                                                                                                    764. Observation.component:dna-region.extension
                                                                                                                    Definition

                                                                                                                    May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                                                                    ShortAdditional content defined by implementations
                                                                                                                    Comments

                                                                                                                    There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                                    Control0..*
                                                                                                                    This element is affected by the following invariants: ele-1
                                                                                                                    TypeExtension
                                                                                                                    Alternate Namesextensions, user content
                                                                                                                    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                    ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                                    SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                                                                    • value @ url
                                                                                                                    • 766. Observation.component:dna-region.modifierExtension
                                                                                                                      Definition

                                                                                                                      May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                                                                      Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                                                                      ShortExtensions that cannot be ignored even if unrecognized
                                                                                                                      Comments

                                                                                                                      There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                                      Control0..*
                                                                                                                      This element is affected by the following invariants: ele-1
                                                                                                                      TypeExtension
                                                                                                                      Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                                                                      Summarytrue
                                                                                                                      Requirements

                                                                                                                      Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                                                                      Alternate Namesextensions, user content, modifiers
                                                                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                                      768. Observation.component:dna-region.code
                                                                                                                      Definition

                                                                                                                      Describes what was observed. Sometimes this is called the observation "code".

                                                                                                                      Short47999-8
                                                                                                                      Comments

                                                                                                                      All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                                                                      Control1..1
                                                                                                                      This element is affected by the following invariants: ele-1
                                                                                                                      BindingFor example codes, see LOINCCodes
                                                                                                                      (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                                                                      Codes identifying names of simple observations.

                                                                                                                      TypeCodeableConcept
                                                                                                                      Summarytrue
                                                                                                                      Requirements

                                                                                                                      Knowing what kind of observation is being made is essential to understanding the observation.

                                                                                                                      Pattern Value{
                                                                                                                        "coding" : [{
                                                                                                                          "system" : "http://loinc.org",
                                                                                                                          "code" : "47999-8"
                                                                                                                        }]
                                                                                                                      }
                                                                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                      770. Observation.component:dna-region.value[x]
                                                                                                                      Definition

                                                                                                                      The information determined as a result of making the observation, if the information has a simple value.

                                                                                                                      ShortActual component result
                                                                                                                      Comments

                                                                                                                      Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                                                                      Control1..1
                                                                                                                      This element is affected by the following invariants: ele-1
                                                                                                                      Typestring
                                                                                                                      [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                                                                      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                                                                      Summarytrue
                                                                                                                      Requirements

                                                                                                                      An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                      772. Observation.component:dna-region.dataAbsentReason
                                                                                                                      Definition

                                                                                                                      Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                                                                      ShortWhy the component result is missing
                                                                                                                      Comments

                                                                                                                      "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                                                                      The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                                                                      Control0..1
                                                                                                                      This element is affected by the following invariants: ele-1, obs-6
                                                                                                                      BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                                                                      (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                                                                      Codes specifying why the result (Observation.value[x]) is missing.

                                                                                                                      TypeCodeableConcept
                                                                                                                      Requirements

                                                                                                                      For many results it is necessary to handle exceptional values in measurements.

                                                                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                      774. Observation.component:dna-region.interpretation
                                                                                                                      Definition

                                                                                                                      A categorical assessment of an observation value. For example, high, low, normal.

                                                                                                                      ShortHigh, low, normal, etc.
                                                                                                                      Comments

                                                                                                                      Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                                                                      Control0..*
                                                                                                                      This element is affected by the following invariants: ele-1
                                                                                                                      BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                                                                      (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                                                                      Codes identifying interpretations of observations.

                                                                                                                      TypeCodeableConcept
                                                                                                                      Requirements

                                                                                                                      For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                                                                      Alternate NamesAbnormal Flag
                                                                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                      776. Observation.component:dna-region.referenceRange
                                                                                                                      Definition

                                                                                                                      Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                                                                      ShortProvides guide for interpretation of component result
                                                                                                                      Comments

                                                                                                                      Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                                                                      Control0..*
                                                                                                                      TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                                                                      Requirements

                                                                                                                      Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                                                                      778. Observation.component:gene-fusion
                                                                                                                      Slice Namegene-fusion
                                                                                                                      Definition

                                                                                                                      Details zur Genfusion in Blut oder Gewebe mittels molekulargenetischer Methode

                                                                                                                      ShortGenfusion
                                                                                                                      Comments

                                                                                                                      For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                                                                      Control0..1
                                                                                                                      This element is affected by the following invariants: ele-1
                                                                                                                      TypeBackboneElement
                                                                                                                      Must Supporttrue
                                                                                                                      Summarytrue
                                                                                                                      Requirements

                                                                                                                      Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                      780. Observation.component:gene-fusion.id
                                                                                                                      Definition

                                                                                                                      Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                                                                      ShortUnique id for inter-element referencing
                                                                                                                      Control0..1
                                                                                                                      Typestring
                                                                                                                      XML FormatIn the XML format, this property is represented as an attribute.
                                                                                                                      782. Observation.component:gene-fusion.extension
                                                                                                                      Definition

                                                                                                                      May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                                                                      ShortAdditional content defined by implementations
                                                                                                                      Comments

                                                                                                                      There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                                      Control0..*
                                                                                                                      This element is affected by the following invariants: ele-1
                                                                                                                      TypeExtension
                                                                                                                      Alternate Namesextensions, user content
                                                                                                                      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                                      SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                                                                      • value @ url
                                                                                                                      • 784. Observation.component:gene-fusion.modifierExtension
                                                                                                                        Definition

                                                                                                                        May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                                                                        Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                                                                        ShortExtensions that cannot be ignored even if unrecognized
                                                                                                                        Comments

                                                                                                                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                                        Control0..*
                                                                                                                        This element is affected by the following invariants: ele-1
                                                                                                                        TypeExtension
                                                                                                                        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                                                                        Summarytrue
                                                                                                                        Requirements

                                                                                                                        Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                                                                        Alternate Namesextensions, user content, modifiers
                                                                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                                        786. Observation.component:gene-fusion.code
                                                                                                                        Definition

                                                                                                                        Describes what was observed. Sometimes this is called the observation "code".

                                                                                                                        ShortType of component observation (code / type)
                                                                                                                        Comments

                                                                                                                        All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                                                                        Control1..1
                                                                                                                        This element is affected by the following invariants: ele-1
                                                                                                                        BindingFor example codes, see LOINCCodes
                                                                                                                        (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                                                                        Codes identifying names of simple observations.

                                                                                                                        TypeCodeableConcept
                                                                                                                        Summarytrue
                                                                                                                        Requirements

                                                                                                                        Knowing what kind of observation is being made is essential to understanding the observation.

                                                                                                                        Pattern Value{
                                                                                                                          "coding" : [{
                                                                                                                            "system" : "http://loinc.org",
                                                                                                                            "code" : "95123-6"
                                                                                                                          }]
                                                                                                                        }
                                                                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                        788. Observation.component:gene-fusion.value[x]
                                                                                                                        Definition

                                                                                                                        The information determined as a result of making the observation, if the information has a simple value.

                                                                                                                        ShortHGNC-Format für Genfusionen GENESYMBOL1::GENESYMBOL2 und Readthrough-Transkripte GENESYMBOL1-GENESYMBOL2
                                                                                                                        Comments

                                                                                                                        Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                                                                        Control1..1
                                                                                                                        This element is affected by the following invariants: ele-1
                                                                                                                        BindingUnless not suitable, these codes SHALL be taken from HUGO Gene Nomenclature Committee Gene Names (HGNC)
                                                                                                                        (extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs)
                                                                                                                        TypeCodeableConcept
                                                                                                                        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                                                                        Summarytrue
                                                                                                                        Requirements

                                                                                                                        An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                        790. Observation.component:gene-fusion.dataAbsentReason
                                                                                                                        Definition

                                                                                                                        Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                                                                        ShortWhy the component result is missing
                                                                                                                        Comments

                                                                                                                        "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                                                                        The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                                                                        Control0..1
                                                                                                                        This element is affected by the following invariants: ele-1, obs-6
                                                                                                                        BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                                                                        (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                                                                        Codes specifying why the result (Observation.value[x]) is missing.

                                                                                                                        TypeCodeableConcept
                                                                                                                        Requirements

                                                                                                                        For many results it is necessary to handle exceptional values in measurements.

                                                                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                        792. Observation.component:gene-fusion.interpretation
                                                                                                                        Definition

                                                                                                                        A categorical assessment of an observation value. For example, high, low, normal.

                                                                                                                        ShortHigh, low, normal, etc.
                                                                                                                        Comments

                                                                                                                        Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                                                                        Control0..*
                                                                                                                        This element is affected by the following invariants: ele-1
                                                                                                                        BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                                                                        (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                                                                        Codes identifying interpretations of observations.

                                                                                                                        TypeCodeableConcept
                                                                                                                        Requirements

                                                                                                                        For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                                                                        Alternate NamesAbnormal Flag
                                                                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                        794. Observation.component:gene-fusion.referenceRange
                                                                                                                        Definition

                                                                                                                        Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                                                                        ShortProvides guide for interpretation of component result
                                                                                                                        Comments

                                                                                                                        Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                                                                        Control0..*
                                                                                                                        TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                                                                        Requirements

                                                                                                                        Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.

                                                                                                                        796. Observation.component:detection-limit
                                                                                                                        Slice Namedetection-limit
                                                                                                                        Definition

                                                                                                                        Die Nachweisgrenze des Laborgeräts

                                                                                                                        ShortNachweisgrenze
                                                                                                                        Comments

                                                                                                                        For a discussion on the ways Observations can be assembled in groups together see Notes below.

                                                                                                                        Control0..1
                                                                                                                        This element is affected by the following invariants: ele-1
                                                                                                                        TypeBackboneElement
                                                                                                                        Must Supporttrue
                                                                                                                        Summarytrue
                                                                                                                        Requirements

                                                                                                                        Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, the reference range for the primary observation value is not inherited by the component values and is required when appropriate for each component observation.

                                                                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                        798. Observation.component:detection-limit.id
                                                                                                                        Definition

                                                                                                                        Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

                                                                                                                        ShortUnique id for inter-element referencing
                                                                                                                        Control0..1
                                                                                                                        Typestring
                                                                                                                        XML FormatIn the XML format, this property is represented as an attribute.
                                                                                                                        800. Observation.component:detection-limit.extension
                                                                                                                        Definition

                                                                                                                        May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

                                                                                                                        ShortAdditional content defined by implementations
                                                                                                                        Comments

                                                                                                                        There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                                        Control0..*
                                                                                                                        This element is affected by the following invariants: ele-1
                                                                                                                        TypeExtension
                                                                                                                        Alternate Namesextensions, user content
                                                                                                                        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                                        SlicingThis element introduces a set of slices on Observation.component.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
                                                                                                                        • value @ url
                                                                                                                        • 802. Observation.component:detection-limit.modifierExtension
                                                                                                                          Definition

                                                                                                                          May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

                                                                                                                          Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

                                                                                                                          ShortExtensions that cannot be ignored even if unrecognized
                                                                                                                          Comments

                                                                                                                          There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

                                                                                                                          Control0..*
                                                                                                                          This element is affected by the following invariants: ele-1
                                                                                                                          TypeExtension
                                                                                                                          Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
                                                                                                                          Summarytrue
                                                                                                                          Requirements

                                                                                                                          Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

                                                                                                                          Alternate Namesextensions, user content, modifiers
                                                                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                          ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
                                                                                                                          804. Observation.component:detection-limit.code
                                                                                                                          Definition

                                                                                                                          Describes what was observed. Sometimes this is called the observation "code".

                                                                                                                          ShortType of component observation (code / type)
                                                                                                                          Comments

                                                                                                                          All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

                                                                                                                          Control1..1
                                                                                                                          This element is affected by the following invariants: ele-1
                                                                                                                          BindingFor example codes, see LOINCCodes
                                                                                                                          (example to http://hl7.org/fhir/ValueSet/observation-codes)

                                                                                                                          Codes identifying names of simple observations.

                                                                                                                          TypeCodeableConcept
                                                                                                                          Summarytrue
                                                                                                                          Requirements

                                                                                                                          Knowing what kind of observation is being made is essential to understanding the observation.

                                                                                                                          Pattern Value{
                                                                                                                            "coding" : [{
                                                                                                                              "system" : "http://loinc.org",
                                                                                                                              "code" : "87706-8"
                                                                                                                            }]
                                                                                                                          }
                                                                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                          806. Observation.component:detection-limit.value[x]
                                                                                                                          Definition

                                                                                                                          The information determined as a result of making the observation, if the information has a simple value.

                                                                                                                          ShortWird üblicherweise als Prozentsatz angegeben
                                                                                                                          Comments

                                                                                                                          Used when observation has a set of component observations. An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived). If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the Notes section below.

                                                                                                                          Control0..1
                                                                                                                          This element is affected by the following invariants: ele-1
                                                                                                                          TypeQuantity
                                                                                                                          [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
                                                                                                                          Summarytrue
                                                                                                                          Requirements

                                                                                                                          An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

                                                                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                          808. Observation.component:detection-limit.dataAbsentReason
                                                                                                                          Definition

                                                                                                                          Provides a reason why the expected value in the element Observation.component.value[x] is missing.

                                                                                                                          ShortWhy the component result is missing
                                                                                                                          Comments

                                                                                                                          "Null" or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "test not done".

                                                                                                                          The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed. Because of these options, use-case agreements are required to interpret general observations for exceptional values.

                                                                                                                          Control0..1
                                                                                                                          This element is affected by the following invariants: ele-1, obs-6
                                                                                                                          BindingUnless not suitable, these codes SHALL be taken from DataAbsentReason
                                                                                                                          (extensible to http://hl7.org/fhir/ValueSet/data-absent-reason)

                                                                                                                          Codes specifying why the result (Observation.value[x]) is missing.

                                                                                                                          TypeCodeableConcept
                                                                                                                          Requirements

                                                                                                                          For many results it is necessary to handle exceptional values in measurements.

                                                                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                          810. Observation.component:detection-limit.interpretation
                                                                                                                          Definition

                                                                                                                          A categorical assessment of an observation value. For example, high, low, normal.

                                                                                                                          ShortHigh, low, normal, etc.
                                                                                                                          Comments

                                                                                                                          Historically used for laboratory results (known as 'abnormal flag' ), its use extends to other use cases where coded interpretations are relevant. Often reported as one or more simple compact codes this element is often placed adjacent to the result value in reports and flow sheets to signal the meaning/normalcy status of the result.

                                                                                                                          Control0..*
                                                                                                                          This element is affected by the following invariants: ele-1
                                                                                                                          BindingUnless not suitable, these codes SHALL be taken from ObservationInterpretationCodes
                                                                                                                          (extensible to http://hl7.org/fhir/ValueSet/observation-interpretation)

                                                                                                                          Codes identifying interpretations of observations.

                                                                                                                          TypeCodeableConcept
                                                                                                                          Requirements

                                                                                                                          For some results, particularly numeric results, an interpretation is necessary to fully understand the significance of a result.

                                                                                                                          Alternate NamesAbnormal Flag
                                                                                                                          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
                                                                                                                          812. Observation.component:detection-limit.referenceRange
                                                                                                                          Definition

                                                                                                                          Guidance on how to interpret the value by comparison to a normal or recommended range.

                                                                                                                          ShortProvides guide for interpretation of component result
                                                                                                                          Comments

                                                                                                                          Most observations only have one generic reference range. Systems MAY choose to restrict to only supplying the relevant reference range based on knowledge about the patient (e.g., specific to the patient's age, gender, weight and other factors), but this might not be possible or appropriate. Whenever more than one reference range is supplied, the differences between them SHOULD be provided in the reference range and/or age properties.

                                                                                                                          Control0..*
                                                                                                                          TypeSeettp://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange
                                                                                                                          Requirements

                                                                                                                          Knowing what values are considered "normal" can help evaluate the significance of a particular result. Need to be able to provide multiple reference ranges for different contexts.