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

FHIR IG analytics

Packagehl7.fhir.uv.genomics-reporting.r4b
Resource TypeValueSet
IdValueSet-hgnc-vs.json
FHIR VersionR4B

Resources that use this resource

No resources found


Resources that this resource uses

No resources found


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:


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/uv/genomics-reporting/ValueSet/hgnc-vs",
  "version": "3.0.0",
  "name": "HGNCVS",
  "title": "HUGO Gene Nomenclature Committee Gene Names (HGNC)",
  "status": "active",
  "experimental": false,
  "date": "2024-12-12T21:16:09+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"
      }
    ]
  }
}