v3-hgnc
type: NamingSystem
node role: treeRoot
id:
  v: v3-hgnc
text:
  status:
    v: generated
  div: Generated Narrative: NamingSystem v3-hgnc Summary Defining URL http://terminology.hl7.org/NamingSystem/v3-hgnc Version 3.0.0 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. 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 gene symbols can be used with the HL7 coded data type. For example, in the HL7 messages specified according to the HL7 V2 Clinical Genomics Fully LOINC-Qualified Genetic Variation Model Implementation Guide, HGNC gene symbols can be used to as the observation values for gene identifiers. For example, OBX|1|CWE|48018-6^Gene identifier^||BRCA1^HGNC| Versioning Information: The version of the HGNC database is reported using the last updated date and timestamp. The last updated date and timestamp is posted on the main HGNC Search screen in the format like "Monday March 30 23:00:56 2009". HGNC is updated daily. HGNC is a free database for the public. Please see https://www.genenames.org/ for more info. Publisher HUGO Gene Nomenclature Committee Identifiers Type Value Preferred Period Comment URI http://www.genenames.org true 2022-08-25 --> (ongoing) This is the URL as specified by the terminology owner, and is considered authoritative. URI http://www.genenames.org/geneId false OID 2.16.…
url:
  v: http://terminology.hl7.org/NamingSystem/v3-hgnc
version:
  v: 3.0.0
name:
  v: HGNCGenes
title:
  v: HUGO Gene Nomenclature Committee Genes
status:
  v: active
kind:
  v: codesystem
date:
  v: 2024-11-05T16:24:26+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. 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 gene symbols can be used with the HL7 coded data type. For example, in the HL7 messages specified according to the HL7 V2 Clinical Genomics Fully LOINC-Qualified Genetic Variation Model Implementation Guide, HGNC gene symbols can be used to as the observation values for gene identifiers. For example, OBX|1|CWE|48018-6^Gene identifier^||BRCA1^HGNC| Versioning Information: The version of the HGNC database is reported using the last updated date and timestamp. The last updated date and timestamp is posted on the main HGNC Search screen in the format like "Monday March 30 23:00:56 2009". HGNC is updated daily. HGNC is a free database for the public. Please see https://www.genenames.org/ for more info.
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