Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions

: Variant Inheritances - TTL Representation

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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:ValueSet;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "variant-inheritance-vs"];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><ul><li>Include these codes as defined in <a href=\"http://loinc.org\"><code>http://loinc.org</code></a><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA26320-4.html\">LA26320-4</a></td><td>Maternal</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA26321-2.html\">LA26321-2</a></td><td>Paternal</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA4489-6.html\">LA4489-6</a></td><td>Unknown</td></tr></table></li></ul></div>"
  ];
  fhir:ValueSet.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-inheritance-vs"];
  fhir:ValueSet.version [ fhir:value "2.0.0"];
  fhir:ValueSet.name [ fhir:value "VariantInheritanceVS"];
  fhir:ValueSet.title [ fhir:value "Variant Inheritances"];
  fhir:ValueSet.status [ fhir:value "active"];
  fhir:ValueSet.date [ fhir:value "2022-05-09T16:59:16+00:00"^^xsd:dateTime];
  fhir:ValueSet.publisher [ fhir:value "HL7 Clinical Genomics Working Group"];
  fhir:ValueSet.contact [
     fhir:index 0;
     fhir:ContactDetail.name [ fhir:value "HL7 Clinical Genomics Working Group" ];
     fhir:ContactDetail.telecom [
       fhir:index 0;
       fhir:ContactPoint.system [ fhir:value "url" ];
       fhir:ContactPoint.value [ fhir:value "http://www.hl7.org/Special/committees/clingenomics" ]     ], [
       fhir:index 1;
       fhir:ContactPoint.system [ fhir:value "email" ];
       fhir:ContactPoint.value [ fhir:value "cg@lists.HL7.org" ]     ]
  ];
  fhir:ValueSet.description [ fhir:value "By which parent the variant was inherited in the patient, if known."];
  fhir:ValueSet.jurisdiction [
     fhir:index 0;
     fhir:CodeableConcept.coding [
       fhir:index 0;
       fhir:Coding.system [ fhir:value "http://unstats.un.org/unsd/methods/m49/m49.htm" ];
       fhir:Coding.code [ fhir:value "001" ];
       fhir:Coding.display [ fhir:value "World" ]     ]
  ];
  fhir:ValueSet.copyright [ fhir:value "This material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc."];
  fhir:ValueSet.compose [
     fhir:ValueSet.compose.include [
       fhir:index 0;
       fhir:ValueSet.compose.include.system [ fhir:value "http://loinc.org" ];
       fhir:ValueSet.compose.include.concept [
         fhir:index 0;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA26320-4" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Maternal" ]       ], [
         fhir:index 1;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA26321-2" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Paternal" ]       ], [
         fhir:index 2;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA4489-6" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Unknown" ]       ]     ]
  ].

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

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