HL7.TERMINOLOGY\HUGO Gene Nomenclature - XML Representation

This page is part of the HL7 Terminology (v2.0.0: Release) based on FHIR R4. The current version which supercedes this version is 5.2.0. For a full list of available versions, see the Directory of published versions
: HUGO Gene Nomenclature - XML Representation

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<NamingSystem xmlns="http://hl7.org/fhir">
  <id value="v3-hgnc"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><h3>Summary</h3><table class="grid"><tr><td>Defining URL</td><td>http://terminology.hl7.org/NamingSystem/v3-hgnc</td></tr><tr><td>Name</td><td>Hgnc</td></tr><tr><td>Status</td><td>active</td></tr><tr><td>Definition</td><td><div><p>HUGO Gene Nomenclature Committee (HGNC) is committee jointly funded by the US National Human Genome Research Institute and the Wellcome Trust (UK). It operates under the auspices of HUGO, with key policy advice from an International Advisory Committee, and is responsible for approving gene names and symbols. All approved symbols are stored in the HGNC database. Each symbol is unique and each gene is only given one approved gene symbol. More than 28,000 human gene symbols and names have been approved so far. The vast majority of these is for protein-coding genes, but also includes symbols for peudogenes, non-coding RNAs, phenotypes and genomic features.</p>
<p>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|</p>
<p>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 &quot;Monday March 30 23:00:56 2009&quot;.</p>
<p>HGNC is updated daily.</p>
<p>HGNC is a free database for the public.</p>
</div></td></tr><tr><td>Publisher</td><td>HUGO Gene Nomenclature Committee</td></tr></table><h3>Identifiers</h3><table class="grid"><tr><td><b>Type</b></td><td><b>Value</b></td><td><b>Preferred</b></td></tr><tr><td>OID</td><td>2.16.840.1.113883.6.281</td><td>true</td></tr><tr><td>URI</td><td>http://www.genenames.org</td><td>true</td></tr></table></div>
  </text>
  <extension url="http://hl7.org/fhir/tools/StructureDefinition/extension-title">
    <valueString value="HUGO Gene Nomenclature"/>
  </extension>
  <extension
             url="http://hl7.org/fhir/5.0/StructureDefinition/extension-NamingSystem.url">
    <valueUri value="http://terminology.hl7.org/NamingSystem/v3-hgnc"/>
  </extension>
  <extension
             url="http://terminology.hl7.org/StructureDefinition/ext-namingsystem-version">
    <valueString value="2.1.0"/>
  </extension>
  <name value="Hgnc"/>
  <status value="active"/>
  <kind value="codesystem"/>
  <date value="2019-03-20T00:00:00-04:00"/>
  <publisher value="HUGO Gene Nomenclature Committee"/>
  <responsible value="HUGO Gene Nomenclature Committee"/>
  <description
               value="HUGO Gene Nomenclature Committee (HGNC) is committee jointly funded by the US National Human Genome Research Institute and the Wellcome Trust (UK). It operates under the auspices of HUGO, with key policy advice from an International Advisory Committee, and is responsible for approving gene names and symbols. All approved symbols are stored in the HGNC database. Each symbol is unique and each gene is only given one approved gene symbol. More than 28,000 human gene symbols and names have been approved so far. The vast majority of these is for protein-coding genes, but also includes symbols for peudogenes, non-coding RNAs, phenotypes and genomic features.

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 &quot;Monday March 30 23:00:56 2009&quot;.

HGNC is updated daily.

HGNC is a free database for the public."/>
  <uniqueId>
    <type value="oid"/>
    <value value="2.16.840.1.113883.6.281"/>
    <preferred value="true"/>
  </uniqueId>
  <uniqueId>
    <type value="uri"/>
    <value value="http://www.genenames.org"/>
    <preferred value="true"/>
  </uniqueId>
</NamingSystem>