Genomics Reporting Implementation Guide
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Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

: HUGO Gene Nomenclature Committee Gene Names (HGNC) - JSON Representation

Active as of 2024-11-19

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{
  "resourceType" : "ValueSet",
  "id" : "hgnc-vs",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet hgnc-vs</b></p><a name=\"hgnc-vs\"> </a><a name=\"hchgnc-vs\"> </a><a name=\"hgnc-vs-en-US\"> </a><p>This value set includes codes based on the following rules:</p><ul><li>Include all codes defined in <a href=\"http://www.genenames.org\"><code>http://www.genenames.org</code></a></li><li>Include all codes defined in <a href=\"http://terminology.hl7.org/6.1.0/CodeSystem-HGNCGeneGroup.html\"><code>http://www.genenames.org/genegroup</code></a></li></ul></div>"
  },
  "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" : "2024-11-19T22:01:39+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"
      }
    ]
  }
}