FHIR © HL7.org  |  FHIRsmith 4.0.1  |  Server Home  |  XIG Home  |  XIG Stats  | 

FHIR IG analytics

Packagehl7.fhir.uv.cg-incubator
Resource TypeValueSet
IdValueSet-hgnc-vs.json
FHIR VersionR6
Sourcehttps://build.fhir.org/ig/HL7/cg-incubator/ValueSet-hgnc-vs.html
URLhttp://hl7.org/fhir/uv/cg-incubator/ValueSet/hgnc-vs
Version0.1.0-ci-build
Statusactive
Date2026-03-14
NameHGNCVS
TitleHUGO Gene Nomenclature Committee Gene Names (HGNC)
Realmuv
Authorityhl7
DescriptionThis value set includes all HGNC Codes, which includes multiple code systems. The preferred system URL is http://www.genenames.org per the HL7 Terminology (THO) NamingSystem definition (https://terminology.hl7.org/NamingSystem-v3-hgnc.html). Gene IDs 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. The genegroup code system is separately included to draw attention to this ambiguity and potential error.
CopyrightHGNC data are freely available for academic and commercial use. See https://www.genenames.org/about/

Resources that use this resource

StructureDefinition
hl7.fhir.uv.cg-incubator#currentGenomicStudyGenomic Study

Resources that this resource uses

CodeSystem
hl7.terminology.r4b#6.0.2www.genenames.orgHUGO Gene Nomenclature Committee Genes
hl7.terminology.r4b#6.0.2genegroupHUGO Gene Nomenclature Committee Gene Group

Narrative

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:

  • Include all codes defined in http://www.genenames.org version Not Stated (use latest from terminology server)
  • Include all codes defined in http://www.genenames.org/genegroup version Not Stated (use latest from terminology server)

Source1

{
  "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-standards-status",
      "valueCode": "trial-use"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
      "valueInteger": 1
    }
  ],
  "url": "http://hl7.org/fhir/uv/cg-incubator/ValueSet/hgnc-vs",
  "version": "0.1.0-ci-build",
  "name": "HGNCVS",
  "title": "HUGO Gene Nomenclature Committee Gene Names (HGNC)",
  "status": "active",
  "experimental": false,
  "date": "2026-03-14",
  "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": "clingenomics@lists.hl7.org"
        }
      ]
    }
  ],
  "description": "This value set includes all HGNC Codes, which includes multiple code systems. The preferred system URL is http://www.genenames.org per the HL7 Terminology (THO) NamingSystem definition (https://terminology.hl7.org/NamingSystem-v3-hgnc.html). Gene IDs 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. The genegroup code system is separately included 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"
        }
      ]
    }
  ],
  "copyright": "HGNC data are freely available for academic and commercial use. See https://www.genenames.org/about/",
  "compose": {
    "include": [
      {
        "system": "http://www.genenames.org"
      },
      {
        "system": "http://www.genenames.org/genegroup"
      }
    ]
  }
}