This page is part of the Genetic Reporting Implementation Guide (v1.0.0: STU 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

VariantInheritance - ttl

Raw ttl

Narrative view of the Value Set

@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"];
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://hl7.org/fhir/StructureDefinition/shareablevalueset";
       fhir:index 0;
       fhir:link <http://hl7.org/fhir/StructureDefinition/shareablevalueset>     ]
  ];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><h2>Variant Inheritance</h2><div><p>A quality inhering in a variant by virtue of its origin.</p>\n</div><p>This value set includes codes from the following code systems:</p><ul><li>Include codes from <a href=\"http://sequenceontology.org\"><code>http://sequenceontology.org</code></a> where concept  descends from  SO:0001762</li><li>Include these codes as defined in <a href=\"https://hl7.org/fhir/codesystem-data-absent-reason.html\"><code>http://terminology.hl7.org/CodeSystem/data-absent-reason</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=\"https://hl7.org/fhir/codesystem-data-absent-reason.html#data-absent-reason-asked-unknown\">asked-unknown</a></td><td>Don't know</td><td>The source was asked but does not know the value.</td></tr></table></li></ul></div>"
  ];
  fhir:DomainResource.extension [
     fhir:index 0;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg" ];
     fhir:Extension.valueCode [ fhir:value "cg" ]
  ];
  fhir:ValueSet.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-inheritance"];
  fhir:ValueSet.version [ fhir:value "1.0.0"];
  fhir:ValueSet.name [ fhir:value "VariantInheritance"];
  fhir:ValueSet.title [ fhir:value "Variant Inheritance"];
  fhir:ValueSet.status [ fhir:value "active"];
  fhir:ValueSet.experimental [ fhir:value "false"^^xsd:boolean];
  fhir:ValueSet.date [ fhir:value "2019-09-25T00:00:00-04:00"^^xsd:dateTime];
  fhir:ValueSet.publisher [ fhir:value "HL7 (Clinical Genomics)"];
  fhir:ValueSet.contact [
     fhir:index 0;
     fhir:ContactDetail.telecom [
       fhir:index 0;
       fhir:ContactPoint.system [ fhir:value "other" ];
       fhir:ContactPoint.value [ fhir:value "https://confluence.hl7.org/display/CGW/WorkGroup+Home" ]     ]
  ];
  fhir:ValueSet.description [ fhir:value "A quality inhering in a variant by virtue of its origin."];
  fhir:ValueSet.compose [
     fhir:ValueSet.compose.include [
       fhir:index 0;
       fhir:ValueSet.compose.include.system [ fhir:value "http://sequenceontology.org" ];
       fhir:ValueSet.compose.include.filter [
         fhir:index 0;
         fhir:ValueSet.compose.include.filter.property [ fhir:value "concept" ];
         fhir:ValueSet.compose.include.filter.op [ fhir:value "descendent-of" ];
         fhir:ValueSet.compose.include.filter.value [ fhir:value "SO:0001762" ]       ]     ], [
       fhir:index 1;
       fhir:ValueSet.compose.include.system [ fhir:value "http://terminology.hl7.org/CodeSystem/data-absent-reason" ];
       fhir:ValueSet.compose.include.concept [
         fhir:index 0;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "asked-unknown" ];
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Don't know" ]       ]     ]
  ].

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

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