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 Model to this guide Map - TTL Representation

Draft as of 2025-09-10

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

 a fhir:ConceptMap ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "geneticTestExpression2FHIR"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ConceptMap geneticTestExpression2FHIR</b></p><a name=\"geneticTestExpression2FHIR\"> </a><a name=\"hcgeneticTestExpression2FHIR\"> </a><p>Mapping from (not specified) to (not specified)</p><br/><p><b>Group 1 </b>Mapping from <a href=\"StructureDefinition-GeneticTestExpression.html\">Genetic Test Expression</a> to <a href=\"StructureDefinition-Condition-primaryCancer-eu-i4rc.html\">Condition: Primary Cancer</a></p><table class=\"grid\"><tr><td><b>Source Code</b></td><td><b>Relationship</b></td><td><b>Target Code</b></td><td><b>Comment</b></td></tr><tr><td>diagnosisReference (Diagnosis reference (M))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#relatedto\" title=\"relatedto\">is related to</a></td><td>Condition</td><td/></tr><tr><td>episodeEventReference (Episode Event Reference (M))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#relatedto\" title=\"relatedto\">is related to</a></td><td>Condition</td><td/></tr><tr><td>geneExpressionAnalysisPerformed (Gene expression analysis performed (R))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#relatedto\" title=\"relatedto\">is related to</a></td><td>Condition.evidence:genetic-test.detail.code</td><td>If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='44808037' it is 'true', else it is 'false'</td></tr><tr><td>dateOfGeneExpression (Date of Gene expression (O))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equivalent\" title=\"equivalent\">is equivalent to</a></td><td>Condition.evidence:genetic-test.detail.effectiveDate</td><td>Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='44808037'</td></tr><tr><td>geneMutationAnalysisPerformed (Gene mutation analysis performed (R))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#relatedto\" title=\"relatedto\">is related to</a></td><td>Condition.evidence:genetic-test.detail.code</td><td>If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4038339' it is 'true', else it is 'false'</td></tr><tr><td>dateOfGeneMutation (Date of Gene mutation (O))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equivalent\" title=\"equivalent\">is equivalent to</a></td><td>Condition.evidence:genetic-test.detail.effectiveDate</td><td>Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4038339'</td></tr><tr><td>testsForChromosomeTranslocationsPerformed (Tests for chromosome translocations performed (R))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#relatedto\" title=\"relatedto\">is related to</a></td><td>Condition.evidence:genetic-test.detail.code</td><td>If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4039364' it is 'true', else it is 'false'</td></tr><tr><td>dateOfTraslocation (Date of traslocation (O))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equivalent\" title=\"equivalent\">is equivalent to</a></td><td>Condition.evidence:genetic-test.detail.effectiveDate</td><td>Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4039364'</td></tr><tr><td>ngsPerformed (Next generation sequencing (NGS)  performed (R))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#relatedto\" title=\"relatedto\">is related to</a></td><td>Condition.evidence:genetic-test.detail.code</td><td>If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='40485067' it is 'true', else it is 'false'</td></tr><tr><td>dateOfNgs (Date of NGS (O))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equivalent\" title=\"equivalent\">is equivalent to</a></td><td>Condition.evidence:genetic-test.detail.effectiveDate</td><td>Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='40485067'</td></tr><tr><td>pcrPerformed (Polymerase chain reaction (PCR) test performed (R))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#relatedto\" title=\"relatedto\">is related to</a></td><td>Condition.evidence:genetic-test.detail.code</td><td>If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='40482792' it is 'true', else it is 'false'</td></tr><tr><td>dateOfPcr (Date of PCR (O))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equivalent\" title=\"equivalent\">is equivalent to</a></td><td>Condition.evidence:genetic-test.detail.effectiveDate</td><td>Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='40482792'</td></tr><tr><td>immunohistochemistryPerformed (Immunohistochemistry  performed (R))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#relatedto\" title=\"relatedto\">is related to</a></td><td>Condition.evidence:genetic-test.detail.code</td><td>If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4035726' it is 'true', else it is 'false'</td></tr><tr><td>dateOfImmunohistochemistry (Date of immunohistochemistry (O))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equivalent\" title=\"equivalent\">is equivalent to</a></td><td>Condition.evidence:genetic-test.detail.effectiveDate</td><td>Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4035726'</td></tr><tr><td>ctdnaPerformed (Circulating Tumour DNA (ctDNA) performed (R))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#relatedto\" title=\"relatedto\">is related to</a></td><td>Condition.evidence:genetic-test.detail.code</td><td>If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='19387013' it is 'true', else it is 'false'</td></tr><tr><td>dateOfCtdna (Date of ctDNA (O))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equivalent\" title=\"equivalent\">is equivalent to</a></td><td>Condition.evidence:genetic-test.detail.effectiveDate</td><td>Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='19387013'</td></tr></table></div>"^^rdf:XMLLiteral
  ] ; # 
  fhir:url [ fhir:v "http://hl7.eu/fhir/ig/idea4rc/ConceptMap/geneticTestExpression2FHIR"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "0.1.0"] ; # 
  fhir:name [ fhir:v "GeneticTestExpression2FHIR"] ; # 
  fhir:title [ fhir:v "GeneticTestExpression Model to this guide Map"] ; # 
  fhir:status [ fhir:v "draft"] ; # 
  fhir:experimental [ fhir:v true] ; # 
  fhir:date [ fhir:v "2025-09-10T15:18:34+00:00"^^xsd:dateTime] ; # 
  fhir:publisher [ fhir:v "IDEA4RC Project"] ; # 
  fhir:contact ( [
fhir:name [ fhir:v "IDEA4RC Project" ] ;
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "https://www.idea4rc.eu/" ]     ] )
  ] [
fhir:name [ fhir:v "IDEA4RC Project" ] ;
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "https://www.idea4rc.eu/" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "It shows how the GeneticTestExpression model is mapped into this guide"] ; # 
  fhir:jurisdiction ( [
    ( fhir:coding [
fhir:system [ fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm"^^xsd:anyURI ] ;
fhir:code [ fhir:v "150" ] ;
fhir:display [ fhir:v "Europe" ]     ] )
  ] ) ; # 
  fhir:group ( [
fhir:source [ fhir:v "http://hl7.eu/fhir/ig/idea4rc/StructureDefinition/GeneticTestExpression"^^xsd:anyURI ] ;
fhir:target [ fhir:v "http://hl7.eu/fhir/ig/idea4rc/StructureDefinition/Condition-primaryCancer-eu-i4rc"^^xsd:anyURI ] ;
    ( fhir:element [
fhir:code [ fhir:v "diagnosisReference" ] ;
fhir:display [ fhir:v "Diagnosis reference (M)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Condition" ] ;
fhir:equivalence [ fhir:v "relatedto" ]       ] )     ] [
fhir:code [ fhir:v "episodeEventReference" ] ;
fhir:display [ fhir:v "Episode Event Reference (M)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Condition" ] ;
fhir:equivalence [ fhir:v "relatedto" ]       ] )     ] [
fhir:code [ fhir:v "geneExpressionAnalysisPerformed" ] ;
fhir:display [ fhir:v "Gene expression analysis performed (R)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Condition.evidence:genetic-test.detail.code" ] ;
fhir:equivalence [ fhir:v "relatedto" ] ;
fhir:comment [ fhir:v "If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='44808037' it is 'true', else it is 'false'" ]       ] )     ] [
fhir:code [ fhir:v "dateOfGeneExpression" ] ;
fhir:display [ fhir:v "Date of Gene expression (O)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Condition.evidence:genetic-test.detail.effectiveDate" ] ;
fhir:equivalence [ fhir:v "equivalent" ] ;
fhir:comment [ fhir:v "Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='44808037'" ]       ] )     ] [
fhir:code [ fhir:v "geneMutationAnalysisPerformed" ] ;
fhir:display [ fhir:v "Gene mutation analysis performed (R)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Condition.evidence:genetic-test.detail.code" ] ;
fhir:equivalence [ fhir:v "relatedto" ] ;
fhir:comment [ fhir:v "If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4038339' it is 'true', else it is 'false'" ]       ] )     ] [
fhir:code [ fhir:v "dateOfGeneMutation" ] ;
fhir:display [ fhir:v "Date of Gene mutation (O)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Condition.evidence:genetic-test.detail.effectiveDate" ] ;
fhir:equivalence [ fhir:v "equivalent" ] ;
fhir:comment [ fhir:v "Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4038339'" ]       ] )     ] [
fhir:code [ fhir:v "testsForChromosomeTranslocationsPerformed" ] ;
fhir:display [ fhir:v "Tests for chromosome translocations performed (R)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Condition.evidence:genetic-test.detail.code" ] ;
fhir:equivalence [ fhir:v "relatedto" ] ;
fhir:comment [ fhir:v "If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4039364' it is 'true', else it is 'false'" ]       ] )     ] [
fhir:code [ fhir:v "dateOfTraslocation" ] ;
fhir:display [ fhir:v "Date of traslocation (O)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Condition.evidence:genetic-test.detail.effectiveDate" ] ;
fhir:equivalence [ fhir:v "equivalent" ] ;
fhir:comment [ fhir:v "Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4039364'" ]       ] )     ] [
fhir:code [ fhir:v "ngsPerformed" ] ;
fhir:display [ fhir:v "Next generation sequencing (NGS)  performed (R)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Condition.evidence:genetic-test.detail.code" ] ;
fhir:equivalence [ fhir:v "relatedto" ] ;
fhir:comment [ fhir:v "If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='40485067' it is 'true', else it is 'false'" ]       ] )     ] [
fhir:code [ fhir:v "dateOfNgs" ] ;
fhir:display [ fhir:v "Date of NGS (O)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Condition.evidence:genetic-test.detail.effectiveDate" ] ;
fhir:equivalence [ fhir:v "equivalent" ] ;
fhir:comment [ fhir:v "Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='40485067'" ]       ] )     ] [
fhir:code [ fhir:v "pcrPerformed" ] ;
fhir:display [ fhir:v "Polymerase chain reaction (PCR) test performed (R)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Condition.evidence:genetic-test.detail.code" ] ;
fhir:equivalence [ fhir:v "relatedto" ] ;
fhir:comment [ fhir:v "If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='40482792' it is 'true', else it is 'false'" ]       ] )     ] [
fhir:code [ fhir:v "dateOfPcr" ] ;
fhir:display [ fhir:v "Date of PCR (O)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Condition.evidence:genetic-test.detail.effectiveDate" ] ;
fhir:equivalence [ fhir:v "equivalent" ] ;
fhir:comment [ fhir:v "Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='40482792'" ]       ] )     ] [
fhir:code [ fhir:v "immunohistochemistryPerformed" ] ;
fhir:display [ fhir:v "Immunohistochemistry  performed (R)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Condition.evidence:genetic-test.detail.code" ] ;
fhir:equivalence [ fhir:v "relatedto" ] ;
fhir:comment [ fhir:v "If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4035726' it is 'true', else it is 'false'" ]       ] )     ] [
fhir:code [ fhir:v "dateOfImmunohistochemistry" ] ;
fhir:display [ fhir:v "Date of immunohistochemistry (O)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Condition.evidence:genetic-test.detail.effectiveDate" ] ;
fhir:equivalence [ fhir:v "equivalent" ] ;
fhir:comment [ fhir:v "Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4035726'" ]       ] )     ] [
fhir:code [ fhir:v "ctdnaPerformed" ] ;
fhir:display [ fhir:v "Circulating Tumour DNA (ctDNA) performed (R)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Condition.evidence:genetic-test.detail.code" ] ;
fhir:equivalence [ fhir:v "relatedto" ] ;
fhir:comment [ fhir:v "If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='19387013' it is 'true', else it is 'false'" ]       ] )     ] [
fhir:code [ fhir:v "dateOfCtdna" ] ;
fhir:display [ fhir:v "Date of ctDNA (O)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Condition.evidence:genetic-test.detail.effectiveDate" ] ;
fhir:equivalence [ fhir:v "equivalent" ] ;
fhir:comment [ fhir:v "Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='19387013'" ]       ] )     ] )
  ] ) . #