RareLink Implementation Guide
2.0.0 - 2.0.0

RareLink Implementation Guide - Local Development build (v2.0.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

Resource Profile: RareLink Condition for Undiagnosed RD Case

Official URL: https://rarelink.bih-charite.de/fhir/StructureDefinition/rarelink-condition-undiagnosed-rd-case Version: 2.0.0
Draft as of 2025-12-12 Computable Name: RareLinkConditionUndiagnosedRDCase

A RareLink-specific Condition profile for documenting undiagnosed rare disease cases based on the IPS Condition profile.

Usages:

  • This Profile is not used by any profiles in this Implementation Guide

You can also check for usages in the FHIR IG Statistics

Formal Views of Profile Content

Description of Profiles, Differentials, Snapshots and how the different presentations work.

Terminology Bindings

Path Status Usage ValueSet Version Source
Condition.clinicalStatus Base required Condition Clinical Status Codes 📍4.0.1 FHIR Std.
Condition.category Base extensible Problem Type - IPS 📦2.0.0-ballot International Patient Summary Implementation Guide v2.0
Condition.severity Base preferred Condition/Diagnosis Severity 📦4.0.1 FHIR Std.
Condition.code Base preferred Problems - IPS 📦2.0.0-ballot International Patient Summary Implementation Guide v2.0
Condition.code.coding.​code Base required Undiagnosed Rare Disease Case Value Set 📦2.0.0 This IG

Constraints

Id Grade Path(s) Description Expression
con-3 best practice Condition Condition.clinicalStatus SHALL be present if verificationStatus is not entered-in-error and category is problem-list-item clinicalStatus.exists() or verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code = 'entered-in-error').exists() or category.select($this='problem-list-item').empty()
con-4 error Condition If condition is abated, then clinicalStatus must be either inactive, resolved, or remission abatement.empty() or clinicalStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-clinical' and (code='resolved' or code='remission' or code='inactive')).exists()
con-5 error Condition Condition.clinicalStatus SHALL NOT be present if verification Status is entered-in-error verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code='entered-in-error').empty() or clinicalStatus.empty()
dom-2 error Condition If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Condition 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-4 error Condition 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-5 error Condition If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Condition A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()

This structure is derived from ConditionUvIps

Terminology Bindings (Differential)

Path Status Usage ValueSet Version Source
Condition.code.coding.​code Base required Undiagnosed Rare Disease Case Value Set 📦2.0.0 This IG

Terminology Bindings

Path Status Usage ValueSet Version Source
Condition.language Base preferred Common Languages 📦4.0.1 FHIR Std.
Condition.clinicalStatus Base required Condition Clinical Status Codes 📍4.0.1 FHIR Std.
Condition.verificationStatus Base required ConditionVerificationStatus 📍4.0.1 FHIR Std.
Condition.category Base extensible Problem Type - IPS 📦2.0.0-ballot International Patient Summary Implementation Guide v2.0
Condition.severity Base preferred Condition/Diagnosis Severity 📦4.0.1 FHIR Std.
Condition.code Base preferred Problems - IPS 📦2.0.0-ballot International Patient Summary Implementation Guide v2.0
Condition.code.coding.​code Base required Undiagnosed Rare Disease Case Value Set 📦2.0.0 This IG
Condition.bodySite Base example SNOMED CT Body Structures 📦4.0.1 FHIR Std.
Condition.subject.type Base extensible ResourceType 📦4.0.1 FHIR Std.
Condition.stage.summary Base example Condition Stage 📦4.0.1 FHIR Std.
Condition.stage.type Base example Condition Stage Type 📦4.0.1 FHIR Std.
Condition.evidence.code Base example Manifestation and Symptom Codes 📦4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
con-1 error Condition.stage Stage SHALL have summary or assessment summary.exists() or assessment.exists()
con-2 error Condition.evidence evidence SHALL have code or details code.exists() or detail.exists()
con-3 best practice Condition Condition.clinicalStatus SHALL be present if verificationStatus is not entered-in-error and category is problem-list-item clinicalStatus.exists() or verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code = 'entered-in-error').exists() or category.select($this='problem-list-item').empty()
con-4 error Condition If condition is abated, then clinicalStatus must be either inactive, resolved, or remission abatement.empty() or clinicalStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-clinical' and (code='resolved' or code='remission' or code='inactive')).exists()
con-5 error Condition Condition.clinicalStatus SHALL NOT be present if verification Status is entered-in-error verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code='entered-in-error').empty() or clinicalStatus.empty()
dom-2 error Condition If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Condition 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-4 error Condition 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-5 error Condition If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Condition A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()

This structure is derived from ConditionUvIps

Summary

Mandatory: 1 element
Must-Support: 1 element

Structures

This structure refers to these other structures:

Key Elements View

Terminology Bindings

Path Status Usage ValueSet Version Source
Condition.clinicalStatus Base required Condition Clinical Status Codes 📍4.0.1 FHIR Std.
Condition.category Base extensible Problem Type - IPS 📦2.0.0-ballot International Patient Summary Implementation Guide v2.0
Condition.severity Base preferred Condition/Diagnosis Severity 📦4.0.1 FHIR Std.
Condition.code Base preferred Problems - IPS 📦2.0.0-ballot International Patient Summary Implementation Guide v2.0
Condition.code.coding.​code Base required Undiagnosed Rare Disease Case Value Set 📦2.0.0 This IG

Constraints

Id Grade Path(s) Description Expression
con-3 best practice Condition Condition.clinicalStatus SHALL be present if verificationStatus is not entered-in-error and category is problem-list-item clinicalStatus.exists() or verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code = 'entered-in-error').exists() or category.select($this='problem-list-item').empty()
con-4 error Condition If condition is abated, then clinicalStatus must be either inactive, resolved, or remission abatement.empty() or clinicalStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-clinical' and (code='resolved' or code='remission' or code='inactive')).exists()
con-5 error Condition Condition.clinicalStatus SHALL NOT be present if verification Status is entered-in-error verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code='entered-in-error').empty() or clinicalStatus.empty()
dom-2 error Condition If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Condition 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-4 error Condition 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-5 error Condition If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Condition A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()

Differential View

This structure is derived from ConditionUvIps

Terminology Bindings (Differential)

Path Status Usage ValueSet Version Source
Condition.code.coding.​code Base required Undiagnosed Rare Disease Case Value Set 📦2.0.0 This IG

Snapshot View

Terminology Bindings

Path Status Usage ValueSet Version Source
Condition.language Base preferred Common Languages 📦4.0.1 FHIR Std.
Condition.clinicalStatus Base required Condition Clinical Status Codes 📍4.0.1 FHIR Std.
Condition.verificationStatus Base required ConditionVerificationStatus 📍4.0.1 FHIR Std.
Condition.category Base extensible Problem Type - IPS 📦2.0.0-ballot International Patient Summary Implementation Guide v2.0
Condition.severity Base preferred Condition/Diagnosis Severity 📦4.0.1 FHIR Std.
Condition.code Base preferred Problems - IPS 📦2.0.0-ballot International Patient Summary Implementation Guide v2.0
Condition.code.coding.​code Base required Undiagnosed Rare Disease Case Value Set 📦2.0.0 This IG
Condition.bodySite Base example SNOMED CT Body Structures 📦4.0.1 FHIR Std.
Condition.subject.type Base extensible ResourceType 📦4.0.1 FHIR Std.
Condition.stage.summary Base example Condition Stage 📦4.0.1 FHIR Std.
Condition.stage.type Base example Condition Stage Type 📦4.0.1 FHIR Std.
Condition.evidence.code Base example Manifestation and Symptom Codes 📦4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
con-1 error Condition.stage Stage SHALL have summary or assessment summary.exists() or assessment.exists()
con-2 error Condition.evidence evidence SHALL have code or details code.exists() or detail.exists()
con-3 best practice Condition Condition.clinicalStatus SHALL be present if verificationStatus is not entered-in-error and category is problem-list-item clinicalStatus.exists() or verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code = 'entered-in-error').exists() or category.select($this='problem-list-item').empty()
con-4 error Condition If condition is abated, then clinicalStatus must be either inactive, resolved, or remission abatement.empty() or clinicalStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-clinical' and (code='resolved' or code='remission' or code='inactive')).exists()
con-5 error Condition Condition.clinicalStatus SHALL NOT be present if verification Status is entered-in-error verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code='entered-in-error').empty() or clinicalStatus.empty()
dom-2 error Condition If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Condition 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-4 error Condition 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-5 error Condition If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Condition A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()

This structure is derived from ConditionUvIps

Summary

Mandatory: 1 element
Must-Support: 1 element

Structures

This structure refers to these other structures:

 

Other representations of profile: CSV, Excel, Schematron