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 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

: Functional Effect - TTL Representation

Raw ttl | Download


@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 "functional-effect-vs"];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><ul><li>Include codes from <a href=\"http://sequenceontology.org\"><code>http://sequenceontology.org</code></a> where concept  is-a  SO:0001536</li></ul></div>"
  ];
  fhir:ValueSet.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/functional-effect-vs"];
  fhir:ValueSet.version [ fhir:value "2.0.0"];
  fhir:ValueSet.name [ fhir:value "FunctionalEffectVS"];
  fhir:ValueSet.title [ fhir:value "Functional Effect"];
  fhir:ValueSet.status [ fhir:value "active"];
  fhir:ValueSet.date [ fhir:value "2022-05-09T16:53:07+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 "The effect of a variant on downstream biological products or pathways."];
  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.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 "is-a" ];
         fhir:ValueSet.compose.include.filter.value [ fhir:value "SO:0001536" ]       ]     ]
  ].

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

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