HL7 Terminology (THO)
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HL7 Terminology (THO), published by HL7 International - Vocabulary Work Group. This is not an authorized publication; it is the continuous build for version 5.0.3). This version is based on the current content of https://github.com/HL7/UTG/ and changes regularly. See the Directory of published versions

: HUGO Gene Nomenclature Committee Gene Group - TTL Representation

Active as of 2023-01-25

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

 a fhir:NamingSystem;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "HGNCGeneGroup"]; # 
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<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/HGNCGeneGroup</td></tr><tr><td>Name</td><td>HGNCGeneGroup</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>\n<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. Please see https://www.genenames.org/ for more info.</p>\n</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/genegroup</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></table></div>"
  ]; # 
  fhir:DomainResource.extension [
     fhir:index 0;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/tools/StructureDefinition/extension-title" ];
     fhir:Extension.valueString [ fhir:value "HUGO Gene Nomenclature Committee Gene Group" ]
  ], [
     fhir:index 1;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/5.0/StructureDefinition/extension-NamingSystem.url" ];
     fhir:Extension.valueUri [ fhir:value "http://terminology.hl7.org/NamingSystem/HGNCGeneGroup" ]
  ], [
     fhir:index 2;
     fhir:Extension.url [ fhir:value "http://terminology.hl7.org/StructureDefinition/ext-namingsystem-version" ];
     fhir:Extension.valueString [ fhir:value "1.0.0" ]
  ]; # 
  fhir:NamingSystem.name [ fhir:value "HGNCGeneGroup"]; # 
  fhir:NamingSystem.status [ fhir:value "active"]; # 
  fhir:NamingSystem.kind [ fhir:value "codesystem"]; # 
  fhir:NamingSystem.date [ fhir:value "2023-01-25T00:59:14+00:00"^^xsd:dateTime]; # 
  fhir:NamingSystem.publisher [ fhir:value "HUGO Gene Nomenclature Committee"]; # 
  fhir:NamingSystem.contact [
     fhir:index 0;
     fhir:ContactDetail.name [ fhir:value "HUGO Gene Nomenclature Committee" ];
     fhir:ContactDetail.telecom [
       fhir:index 0;
       fhir:ContactPoint.system [ fhir:value "url" ];
       fhir:ContactPoint.value [ fhir:value "https://www.genenames.org/" ]     ], [
       fhir:index 1;
       fhir:ContactPoint.system [ fhir:value "email" ];
       fhir:ContactPoint.value [ fhir:value "hgnc@genenames.org" ]     ]
  ]; # 
  fhir:NamingSystem.responsible [ fhir:value "HUGO Gene Nomenclature Committee"]; # 
  fhir:NamingSystem.description [ fhir: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.\r\n\r\nFor 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. Please see https://www.genenames.org/ for more info."]; # 
  fhir:NamingSystem.uniqueId [
     fhir:index 0;
     fhir:NamingSystem.uniqueId.type [ fhir:value "uri" ];
     fhir:NamingSystem.uniqueId.value [ fhir:value "http://www.genenames.org/genegroup" ];
     fhir:NamingSystem.uniqueId.preferred [ fhir:value "true"^^xsd:boolean ];
     fhir:NamingSystem.uniqueId.comment [ fhir:value "This is the URL as specified by the terminology owner, and is considered authoritative." ];
     fhir:NamingSystem.uniqueId.period [
       fhir:Period.start [ fhir:value "2022-08-25"^^xsd:date ]     ]
  ]. # 

# - ontology header ------------------------------------------------------------

 a owl:Ontology;
  owl:imports fhir:fhir.ttl.