IDEA4RC FHIR Implementation Guide
0.1.0 - CI Build 150

IDEA4RC FHIR Implementation Guide, published by IDEA4RC Project. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/hl7-eu/idea4rc/ and changes regularly. See the Directory of published versions

: Genetic test expression - TTL Representation

Draft as of 2026-08-07

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 -------------------------------------------------------------------

<http://hl7.org/fhir/ValueSet/genetic-test-expression-i4rc> a fhir:ValueSet ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "genetic-test-expression-i4rc"] ;
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ] ;
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet genetic-test-expression-i4rc</b></p><a name=\"genetic-test-expression-i4rc\"> </a><a name=\"hcgenetic-test-expression-i4rc\"> </a><ul><li>Include these codes as defined in <code>http://fhir.ohdsi.org/CodeSystem/concepts</code><span title=\"Version is not explicitly stated. No matching Code System found\"> version Not Stated (use latest from terminology server)</span><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>44808037</td><td>Gene expression assay</td></tr><tr><td>4038339</td><td>Gene mutation analysis</td></tr><tr><td>4039364</td><td>Translocation analysis</td></tr><tr><td>40485067</td><td>Analysis using chain termination sequencing technique</td></tr><tr><td>40482792</td><td>Quantitative PCR analysis</td></tr><tr><td>4035726</td><td>Immunohistochemistry procedure</td></tr><tr><td>19387013</td><td>Circulating Tumor DNA</td></tr></table></li></ul></div>"
  ] ;
  fhir:ValueSet.url [ fhir:value "http://hl7.eu/fhir/ig/idea4rc/ValueSet/genetic-test-expression-i4rc"] ;
  fhir:ValueSet.version [ fhir:value "0.1.0"] ;
  fhir:ValueSet.name [ fhir:value "VsGeneticTestExpressionI4rc"] ;
  fhir:ValueSet.title [ fhir:value "Genetic test expression"] ;
  fhir:ValueSet.status [ fhir:value "draft"] ;
  fhir:ValueSet.experimental [ fhir:value "false"^^xsd:boolean] ;
  fhir:ValueSet.date [ fhir:value "2026-08-07T10:05:28+00:00"^^xsd:dateTime] ;
  fhir:ValueSet.publisher [ fhir:value "IDEA4RC Project"] ;
  fhir:ValueSet.contact [
     fhir:index 0 ;
     fhir:ContactDetail.name [ fhir:value "IDEA4RC Project" ] ;
     fhir:ContactDetail.telecom [
       fhir:index 0 ;
       fhir:ContactPoint.system [ fhir:value "url" ] ;
       fhir:ContactPoint.value [ fhir:value "https://www.idea4rc.eu/" ]
     ]
  ], [
     fhir:index 1 ;
     fhir:ContactDetail.name [ fhir:value "IDEA4RC Project" ] ;
     fhir:ContactDetail.telecom [
       fhir:index 0 ;
       fhir:ContactPoint.system [ fhir:value "url" ] ;
       fhir:ContactPoint.value [ fhir:value "https://www.idea4rc.eu/" ]
     ]
  ] ;
  fhir:ValueSet.description [ fhir:value "This ValueSet defines a collection of genetic testing and expression analysis procedures, sourced from Athena concepts"] ;
  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 "150" ] ;
       fhir:Coding.display [ fhir:value "Europe" ]
     ]
  ] ;
  fhir:ValueSet.compose [
     fhir:ValueSet.compose.include [
       fhir:index 0 ;
       fhir:ValueSet.compose.include.system [ fhir:value "http://fhir.ohdsi.org/CodeSystem/concepts" ] ;
       fhir:ValueSet.compose.include.concept [
         fhir:index 0 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "44808037" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Gene expression assay" ]
       ], [
         fhir:index 1 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "4038339" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Gene mutation analysis" ]
       ], [
         fhir:index 2 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "4039364" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Translocation analysis" ]
       ], [
         fhir:index 3 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "40485067" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Analysis using chain termination sequencing technique" ]
       ], [
         fhir:index 4 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "40482792" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Quantitative PCR analysis" ]
       ], [
         fhir:index 5 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "4035726" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Immunohistochemistry procedure" ]
       ], [
         fhir:index 6 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "19387013" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Circulating Tumor DNA" ]
       ]
     ]
  ] .

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

<http://hl7.org/fhir/ValueSet/genetic-test-expression-i4rc.ttl> a owl:Ontology ;
  owl:imports fhir:fhir.ttl ;
  owl:versionIRI <http://build.fhir.org/ValueSet/genetic-test-expression-i4rc.ttl> .