HL7 Terminology (THO)
5.5.0 - Publication International flag

This page is part of the HL7 Terminology (v5.5.0: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

: null - XML Representation

Active as of 2024-03-09

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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>Version</td><td>3.0.0</td></tr><tr><td>Name</td><td>HGNCGenes</td></tr><tr><td>Title</td><td>HUGO Gene Nomenclature Committee Genes</td></tr><tr><td>Status</td><td>active</td></tr><tr><td>Definition</td><td><div><p>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.</p>
<p>For each known human gene we approve a gene name and symbol (short-form abbreviation). All approved symbols are stored in the HGNC database,<a href="https://www.genenames.org/tools/search">www.genenames.org</a>, 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.</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>
<p>Please see https://www.genenames.org/ for more info.</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><td><b>Period</b></td><td><b>Comment</b></td></tr><tr><td>URI</td><td>http://www.genenames.org</td><td>true</td><td>2022-08-25 --&gt; (ongoing)</td><td>This is the URL as specified by the terminology owner, and is considered authoritative.</td></tr><tr><td>URI</td><td>http://www.genenames.org/geneId</td><td>false</td><td></td><td/></tr><tr><td>OID</td><td>2.16.840.1.113883.6.281</td><td>true</td><td></td><td/></tr></table></div>
  </text>
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             url="http://hl7.org/fhir/5.0/StructureDefinition/extension-NamingSystem.url">
    <valueUri value="http://terminology.hl7.org/NamingSystem/v3-hgnc"/>
  </extension>
  <extension
             url="http://hl7.org/fhir/5.0/StructureDefinition/extension-NamingSystem.version">
    <valueString value="3.0.0"/>
  </extension>
  <extension
             url="http://hl7.org/fhir/5.0/StructureDefinition/extension-NamingSystem.title">
    <valueString value="HUGO Gene Nomenclature Committee Genes"/>
  </extension>
  <name value="HGNCGenes"/>
  <status value="active"/>
  <kind value="codesystem"/>
  <date value="2024-03-09T11:11:30-07:00"/>
  <publisher value="HUGO Gene Nomenclature Committee"/>
  <contact>
    <name value="HUGO Gene Nomenclature Committee"/>
    <telecom>
      <system value="url"/>
      <value value="https://www.genenames.org/"/>
    </telecom>
    <telecom>
      <system value="email"/>
      <value value="hgnc@genenames.org"/>
    </telecom>
  </contact>
  <responsible value="HUGO Gene Nomenclature Committee"/>
  <description
               value="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 &quot;Monday March 30 23:00:56 2009&quot;.

HGNC is updated daily.

HGNC is a free database for the public.

Please see https://www.genenames.org/ for more info."/>
  <uniqueId>
    <type value="uri"/>
    <value value="http://www.genenames.org"/>
    <preferred value="true"/>
    <comment
             value="This is the URL as specified by the terminology owner, and is considered authoritative."/>
    <period>
      <start value="2022-08-25"/>
    </period>
  </uniqueId>
  <uniqueId>
    <type value="uri"/>
    <value value="http://www.genenames.org/geneId"/>
    <preferred value="false"/>
  </uniqueId>
  <uniqueId>
    <type value="oid"/>
    <value value="2.16.840.1.113883.6.281"/>
    <preferred value="true"/>
  </uniqueId>
</NamingSystem>