| Package | hl7.fhir.uv.genomics-reporting |
| Resource Type | ValueSet |
| Id | hgnc-vs |
| FHIR Version | R4 |
| Source | http://hl7.org/fhir/uv/genomics-reporting/https://build.fhir.org/ig/HL7/genomics-reporting/ValueSet-hgnc-vs.html |
| URL | http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs |
| Version | 4.0.0-ballot |
| Status | active |
| Date | 2025-06-24T17:31:37+00:00 |
| Name | HGNCVS |
| Title | HUGO Gene Nomenclature Committee Gene Names (HGNC) |
| Realm | uv |
| Authority | hl7 |
| Description | This value set includes all HGNC Codes, which includes multiple code systems. In this guide, Gene IDs from HGNC are used as CodeableConcepts, which must be sent with the HGNC gene ID including the prefix 'HGNC:' as the code and the HGNC 'gene symbol' as display. CAUTION: HGNC also indexes gene groups by numeric ID (without a prefix), and older systems may send HGNC gene IDs without the prefix, so care must be taken to confirm alignment. We have separately included the genegroup code system to draw attention to this ambiguity and potential error. |
| StructureDefinition | |
| finding | Genomic Finding |
| genomic-study-analysis-regions | Genomic Study Analysis Regions |
| molecular-biomarker | Molecular Biomarker |
| variante | MII PR MolGen Variante |
| mii-pr-mtb-molekularer-biomarker | MII PR MTB Molekularer Biomarker |
| CodeSystem | |
| genegroup | HUGO Gene Nomenclature Committee Gene Group |
| www.genenames.org | HUGO Gene Nomenclature Committee Genes |
Note: links and images are rebased to the (stated) source
Generated Narrative: ValueSet hgnc-vs
This value set includes codes based on the following rules:
FHIRhttp://www.genenames.orghttp://www.genenames.org/genegroup{
"resourceType": "ValueSet",
"id": "hgnc-vs",
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
"valueCode": "cg"
},
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
"valueInteger": 2,
"_valueInteger": {
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
"valueCanonical": "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
}
]
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
"valueCode": "trial-use",
"_valueCode": {
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
"valueCanonical": "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
}
]
}
}
],
"url": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs",
"version": "4.0.0-ballot",
"name": "HGNCVS",
"title": "HUGO Gene Nomenclature Committee Gene Names (HGNC)",
"status": "active",
"experimental": false,
"date": "2025-06-24T17:31:37+00:00",
"publisher": "HL7 International / Clinical Genomics",
"contact": [
{
"name": "HL7 International / Clinical Genomics",
"telecom": [
{
"system": "url",
"value": "http://www.hl7.org/Special/committees/clingenomics"
},
{
"system": "email",
"value": "cg@lists.HL7.org"
}
]
}
],
"description": "This value set includes all HGNC Codes, which includes multiple code systems. In this guide, Gene IDs from HGNC are used as CodeableConcepts, which must be sent with the HGNC gene ID including the prefix 'HGNC:' as the code and the HGNC 'gene symbol' as display. CAUTION: HGNC also indexes gene groups by numeric ID (without a prefix), and older systems may send HGNC gene IDs without the prefix, so care must be taken to confirm alignment. We have separately included the genegroup code system to draw attention to this ambiguity and potential error.",
"jurisdiction": [
{
"coding": [
{
"system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
"code": "001",
"display": "World"
}
]
}
],
"compose": {
"include": [
{
"system": "http://www.genenames.org"
},
{
"system": "http://www.genenames.org/genegroup"
}
]
}
}