v3-hgnc
type: NamingSystem
node role: treeRoot
id:
  v: v3-hgnc
text:
  status:
    v: generated
  div:
    v: Generated Narrative: NamingSystem v3-hgnc Summary Defining URL http://terminology.hl7.org/NamingSystem/v3-hgnc Version 3.1.0 Name HGNCGenes Title HUGO Gene Nomenclature Committee Genes Status active Definition "The HGNC is responsible for approving unique symbols and names for human loci, including protein coding genes, ncRNA genes and pseudogenes, to allow unambiguous scientific communication." The HGNC gene table carries gene IDs, gene symbols and full gene names. Guidance from HGNC confirms that gene symbols are not unique across species and have been known to change in some instances. Thus the commonly used gene symbols should be encoded in FHIR as "displays" with the corresponding IDs (beginning with "HGNC:") as the "codes". "For each known human gene we approve a gene name and symbol (short-form abbreviation). All approved symbols are stored in the HGNC database,www.genenames.org, a curated online repository of HGNC-approved gene nomenclature, gene groups and associated resources including links to genomic, proteomic and phenotypic information. Each symbol is unique and we ensure that each gene is only given one approved gene symbol. It is necessary to provide a unique symbol for each gene so that we and others can talk about them, and this also facilitates electronic data retrieval from publications and databases." HGNC also provides an index on gene families/groups. GeneGroup IDs do not begin with "HGNC:", so care must be made to ensure alignment of concepts when viewing an HGNC ID from an older system that may be referring to the GeneID and not a gene group. For example, 588 refers to the HLA gene family, but HGNC:588 identifies the ATG12 gene. To provide clarity for systems that do not distinguish codes from genes and gene families, use "http://www.genenames.org" for genes and "http://www.genenames.org/genegroup" for gene families as code system URIs. For more information on HGNC Gene Groups, see https://terminology.hl7.org/CodeSystem-HGNCGeneGroup.html. H…
url:
  v: http://terminology.hl7.org/NamingSystem/v3-hgnc
  l: v3-hgnc
version:
  v: 3.1.0
name:
  v: HGNCGenes
title:
  v: HUGO Gene Nomenclature Committee Genes
status:
  v: active
kind:
  v: codesystem
date:
  v: 2024-08-22T00:00:00-00:00
publisher:
  v: HUGO Gene Nomenclature Committee
contact:
  name:
    v: HUGO Gene Nomenclature Committee
  telecom:
    system:
      v: url
    value:
      v: https://www.genenames.org/
  telecom:
    system:
      v: email
responsible:
  v: HUGO Gene Nomenclature Committee
description:
  v: "The HGNC is responsible for approving unique symbols and names for human loci, including protein coding genes, ncRNA genes and pseudogenes, to allow unambiguous scientific communication." The HGNC gene table carries gene IDs, gene symbols and full gene names. Guidance from HGNC confirms that gene symbols are not unique across species and have been known to change in some instances. Thus the commonly used gene symbols should be encoded in FHIR as "displays" with the corresponding IDs (beginning with "HGNC:") as the "codes". "For each known human gene we approve a gene name and symbol (short-form abbreviation). All approved symbols are stored in the HGNC database,[www.genenames.org](https://www.genenames.org/tools/search), a curated online repository of HGNC-approved gene nomenclature, gene groups and associated resources including links to genomic, proteomic and phenotypic information. Each symbol is unique and we ensure that each gene is only given one approved gene symbol. It is necessary to provide a unique symbol for each gene so that we and others can talk about them, and this also facilitates electronic data retrieval from publications and databases." HGNC also provides an index on gene families/groups. GeneGroup IDs do not begin with "HGNC:", so care must be made to ensure alignment of concepts when viewing an HGNC ID from an older system that may be referring to the GeneID and not a gene group. For example, 588 refers to the HLA gene family, but HGNC:588 identifies the ATG12 gene. To provide clarity for systems that do not distinguish codes from genes and gene families, use "http://www.genenames.org" for genes and "http://www.genenames.org/genegroup" for gene families as code system URIs. For more information on HGNC Gene Groups, see [https://terminology.hl7.org/CodeSystem-HGNCGeneGroup.html](https://terminology.hl7.org/CodeSystem-HGNCGeneGroup.html). Historically, HGNC gene symbols were used with the HL7 coded data type. For example, in the HL7 messages spe…
unique id:
  type:
    v: uri
  value:
    v: http://www.genenames.org
  preferred:
    v: true
  comment:
    v: This is the URL as specified by the terminology owner, and is considered authoritative.
  period:
    start:
      v: 2022-08-25
unique id:
  type:
    v: uri
  value:
    v: http://www.genenames.org/geneId
  preferred:
    v: false
unique id:
  type:
    v: oid
  value:
    v: 2.16.840.1.113883.6.281
  preferred:
    v: true