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FHIR IG Statistics: ValueSet/hgnc-vs

Packagehl7.fhir.uv.genomics-reporting
TypeValueSet
Idhgnc-vs
FHIR VersionR4
Sourcehttp://hl7.org/fhir/uv/genomics-reporting/https://build.fhir.org/ig/HL7/genomics-reporting/ValueSet-hgnc-vs.html
URLhttp://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs
Version4.0.0-ballot
Statusactive
Date2025-06-24T17:31:37+00:00
NameHGNCVS
TitleHUGO Gene Nomenclature Committee Gene Names (HGNC)
Realmuv
Authorityhl7
DescriptionThis 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.

Resources that use this resource

StructureDefinition
findingGenomic Finding
genomic-study-analysis-regionsGenomic Study Analysis Regions
molecular-biomarkerMolecular Biomarker
varianteMII PR MolGen Variante
mii-pr-mtb-molekularer-biomarkerMII PR MTB Molekularer Biomarker

Resources that this resource uses

CodeSystem
genegroupHUGO Gene Nomenclature Committee Gene Group
www.genenames.orgHUGO Gene Nomenclature Committee Genes
genegroupHUGO Gene Nomenclature Committee Gene Group
www.genenames.orgHUGO Gene Nomenclature Committee Genes

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:


Source

{
  "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"
      }
    ]
  }
}