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
This page provides a list of the FHIR artifacts defined as part of this implementation guide.
These define constraints on FHIR resources for systems conforming to this implementation guide.
| RareLink Condition for Undiagnosed RD Case |
A RareLink-specific Condition profile for documenting undiagnosed rare disease cases based on the IPS Condition profile. |
| RareLink Consent |
A RareLink-specific Consent profile based on the Consent resource. |
| RareLink Diagnostic Implication Observation |
A RareLink-specific profile extending the HL7 Genomics Reporting ‘diagnostic-implication’ profile for documenting diagnostic significance, evidence levels, and associated phenotypes (genetic_findings.diagnostic_implication). |
| RareLink Encounter |
A RareLink-specific Encounter profile based on the Encounter resource. |
| RareLink Family History |
A RareLink-specific FamilyMemberHistory profile based on the FamilyMemberHistory resource. |
| RareLink Genetic Variant Observation |
A RareLink-specific profile for documenting genetic findings (genetic_findings.variant), based on the HL7 Genomics Reporting variant profile. |
| RareLink IPS Condition |
A RareLink-specific Condition profile based on the IPS Condition profile. |
| RareLink IPS Measurement Laboratory |
A RareLink-specific profile for laboratory measurements based on the IPS Observation profile. |
| RareLink IPS Measurement Radiology |
A RareLink-specific profile for radiology measurements based on the IPS Observation profile. |
| RareLink IPS Patient |
A RareLink-specific profile for the IPS Patient resource. |
| RareLink IPS Procedure |
A RareLink-specific profile for the IPS Procedure resource. |
| RareLink Observation Age Category |
A RareLink-specific profile for capturing the age category of a patient as an observation, based on the ERDRI-CDS value set. |
| RareLink Observation Gestation at Birth |
A RareLink-specific profile for capturing gestation length at birth. |
| RareLink Observation Karyotypic Sex |
A RareLink-specific profile for capturing karyotypic sex information. |
| RareLink Observation Measurements (Others) |
A RareLink-specific profile for measurements that do not fall under IPS laboratory, radiology, procedures, or vital signs. |
| RareLink Observation Phenotypic Feature |
A RareLink-specific profile for capturing phenotypic features. |
| RareLink Vital Signs Measurements |
A RareLink-specific profile for vital signs measurements. |
These define constraints on FHIR data types for systems conforming to this implementation guide.
| Age at Diagnosis |
ERDRI-CDS - The age at which the condition was diagnosed. |
| Age at Onset |
ERDRI-CDS - The age at which the condition first appeared. |
| Agreement to Be Contacted |
ERDRI-CDS - Agreement to be contacted for research purposes. |
| Birth Place |
The patient’s place of birth. |
| Cause of Death |
The cause of death for the patient. |
| Cause of Death Code |
The ICD-10 code representing the cause of death. |
| Cause of Death Definition |
The SNOMED CT definition of the cause of death concept. |
| Cliical Modifier |
Modifier describing a specific phenotypic feature further (deerived from clinical modifiers - HP:0012823) |
| Cliical Modifier |
Modifier describing a specific phenotypic feature further (deerived from clinical modifiers - HP:0012823) |
| Cliical Modifier |
Modifier describing a specific phenotypic feature further (deerived from clinical modifiers - HP:0012823) |
| Consanguinity |
Indicates whether there is consanguinity in the family relationship. |
| Consent to Reuse Data |
ERDRI-CDS - Consent to the reuse of data. |
| Date of Admission |
The date of the patient’s admission. |
| Phenotype Causing Organism |
The organism that is causing the phenotypic feature (e.g., a virus, bacteria, etc.). |
| Phenotype Severity |
The severity of the phenotypic feature. |
| Phenotype Status |
Captures the status of a phenotypic feature, such as confirmed present or refuted. |
| Phenotype Temporal Pattern |
The speed at which a disease manifestations appear and develop. |
| Propositus |
Indicates whether the family member is the propositus. |
| Recorded Sex at Birth |
The sex assigned to the patient at birth. |
| Resolution Date |
The date when the phenotypic feature resolved. |
| Vital Status |
Coded representation of a patient’s vital status |
These define sets of codes used by systems conforming to this implementation guide.
| Age Category Value Set |
Value set for capturing the age category of a patient. |
| Age at Diagnosis Value Set |
Value set for capturing age at diagnosis. |
| Age at Onset Value Set |
Value set for capturing age at onset. |
| Age of Onset Value Set |
Value set for capturing the age of onset for phenotypes. |
| Agreement to Be Contacted Value Set (ERDRI-CDS) |
Value set for capturing agreement to be contacted for research. |
| Clinical Significance Value Set |
LOINC LA codes for the clinical significance of a variant. |
| Consanguinity Value Set |
Value set for indicating whether there is consanguinity in the family relationship. |
| Consent to Reuse Data Value Set (ERDRI-CDS) |
Value set for capturing consent to reuse data. |
| DNA Change Type Value Set |
LOINC LA codes enumerating various DNA change types. |
| Encounter Class Value Set |
Value set for encounter classes, including custom RareLink-specific codes. |
| Family Member Sex Value Set |
Value set for capturing the sex of a family member. |
| Family Relationship Value Set |
Value set for capturing family member relationships. |
| Genomic Source Class Value Set |
LOINC LA codes enumerating germline, somatic, fetal, etc. |
| Karyotypic Sex Value Set |
Value set for capturing karyotypic sex. |
| Level of Evidence Value Set |
LOINC LA codes describing evidence strength for a variant. |
| Phenotype Severity Value Set |
Value set for capturing phenotype severity. |
| Phenotype Status Value Set |
Value set for capturing phenotype status. |
| Propositus Value Set |
Value set for indicating whether the family member is the propositus. |
| Reference Genome Value Set |
LOINC LA codes specifying the reference genome build. |
| Severity Value Set |
Value set for severity levels of conditions. |
| Sex at Birth Value Set |
Value set for capturing the sex assigned at birth. |
| Structural Variant Method Value Set |
LOINC LA codes enumerating methods for detecting structural variants. |
| Temporal Pattern Value Set |
Value set for capturing the temporal pattern of phenotypic features. |
| Undiagnosed Rare Disease Case Value Set |
Value set for capturing undiagnosed rare disease cases. |
| Vital Status Value Set |
Value set for capturing the vital status of the patient. |
| Zygosity Value Set |
LOINC LA codes enumerating various zygosity states. |