臺灣次世代基因定序檢測實作指引
1.0.0 - STU1.0.0

This page is part of the 臺灣次世代基因定序檢測實作指引 (v1.0.0: STU1.0.0) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

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

Active as of 2024-12-12

Raw json | Download

{
  "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><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>"
  },
  "url" : "https://nhicore.nhi.gov.tw/ngs/ValueSet/hgnc-vs",
  "version" : "1.0.0",
  "name" : "HGNCVS",
  "title" : "HUGO Gene Nomenclature Committee Gene Names (HGNC)",
  "status" : "active",
  "experimental" : false,
  "date" : "2024-12-12",
  "publisher" : "衛生福利部中央健康保險署",
  "contact" : [
    {
      "name" : "衛生福利部中央健康保險署",
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://www.nhi.gov.tw"
        }
      ]
    }
  ],
  "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.",
  "compose" : {
    "include" : [
      {
        "system" : "http://www.genenames.org"
      },
      {
        "system" : "http://www.genenames.org/genegroup"
      }
    ]
  }
}