Resource ValueSet/FHIR Server from package hl7.fhir.uv.genomics-reporting#current (46 ms)

Resources that use this resource

StructureDefinition
finding	Genomic Finding
genomic-study-analysis-regions	Genomic Study Analysis Regions
molecular-biomarker	Molecular Biomarker
https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante	MII PR MolGen Variante

Resources that this resource uses

CodeSystem
http://www.genenames.org/genegroup	HUGO Gene Nomenclature Committee Gene Group
http://www.genenames.org	HUGO Gene Nomenclature Committee Genes

Narrative

Note: links and images are rebased to the (stated) source

Source

{
  "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" : "2024-12-12T20:13:16+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"
      }
    ]
  }
}

XIG built as of ??metadata-date??. Found ??metadata-resources?? resources in ??metadata-packages?? packages.