HL7 Terminology (THO)
4.0.0 - Publication International flag

This page is part of the HL7 Terminology (v4.0.0: 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

: Genetic Testing Registry - TTL Representation

Active as of 2022-02-03

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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 "GTR"];
  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/GTR</td></tr><tr><td>Name</td><td>GTR</td></tr><tr><td>Status</td><td>active</td></tr><tr><td>Definition</td><td><div><p>The Genetic Testing Registry (GTR) provides a central location for voluntary submission of genetic test information by providers. The scope includes the test's purpose, methodology, validity, evidence of the test's usefulness, and laboratory contacts and credentials. The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease.</p>\n<p>Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix &quot;GTR&quot; followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.</p>\n<p>To find all laboratories in GTR and all registered tests, see here https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=all%5Bsb%5D</p>\n</div></td></tr><tr><td>Publisher</td><td>National Center for Biotechnology Information, U.S. National Library of Medicine</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>https://www.ncbi.nlm.nih.gov/gtr/</td><td>true</td><td>2021-01-27 --&gt; (ongoing)</td><td>Official canonical URL going forward.</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 "Genetic Testing Registry" ]
  ], [
     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/GTR" ]
  ], [
     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 "GTR"];
  fhir:NamingSystem.status [ fhir:value "active"];
  fhir:NamingSystem.kind [ fhir:value "codesystem"];
  fhir:NamingSystem.date [ fhir:value "2022-02-03T00:00:00-00:00"^^xsd:dateTime];
  fhir:NamingSystem.publisher [ fhir:value "National Center for Biotechnology Information, U.S. National Library of Medicine"];
  fhir:NamingSystem.contact [
     fhir:index 0;
     fhir:ContactDetail.name [ fhir:value "National Center for Biotechnology Information, U.S. National Library of Medicine; 8600 Rockville Pike, Bethesda MD, 20894 USA" ];
     fhir:ContactDetail.telecom [
       fhir:index 0;
       fhir:ContactPoint.system [ fhir:value "url" ];
       fhir:ContactPoint.value [ fhir:value "https://www.ncbi.nlm.nih.gov/" ]     ]
  ];
  fhir:NamingSystem.description [ fhir:value "The Genetic Testing Registry (GTR) provides a central location for voluntary submission of genetic test information by providers. The scope includes the test's purpose, methodology, validity, evidence of the test's usefulness, and laboratory contacts and credentials. The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease.\r\n\r\nEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix \"GTR\" followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.\r\n\r\nTo find all laboratories in GTR and all registered tests, see here https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=all%5Bsb%5D"];
  fhir:NamingSystem.uniqueId [
     fhir:index 0;
     fhir:NamingSystem.uniqueId.type [ fhir:value "uri" ];
     fhir:NamingSystem.uniqueId.value [ fhir:value "https://www.ncbi.nlm.nih.gov/gtr/" ];
     fhir:NamingSystem.uniqueId.preferred [ fhir:value "true"^^xsd:boolean ];
     fhir:NamingSystem.uniqueId.comment [ fhir:value "Official canonical URL going forward." ];
     fhir:NamingSystem.uniqueId.period [
       fhir:Period.start [ fhir:value "2021-01-27"^^xsd:date ]     ]
  ].

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

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