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 - XML Representation

Draft as of 2025-09-10

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<ConceptMap xmlns="http://hl7.org/fhir">
  <id value="geneticTestExpression2FHIR"/>
  <text>
    <status value="generated"/>
    <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>
  </text>
  <url
       value="http://hl7.eu/fhir/ig/idea4rc/ConceptMap/geneticTestExpression2FHIR"/>
  <version value="0.1.0"/>
  <name value="GeneticTestExpression2FHIR"/>
  <title value="GeneticTestExpression Model to this guide Map"/>
  <status value="draft"/>
  <experimental value="true"/>
  <date value="2025-09-10T15:18:34+00:00"/>
  <publisher value="IDEA4RC Project"/>
  <contact>
    <name value="IDEA4RC Project"/>
    <telecom>
      <system value="url"/>
      <value value="https://www.idea4rc.eu/"/>
    </telecom>
  </contact>
  <contact>
    <name value="IDEA4RC Project"/>
    <telecom>
      <system value="url"/>
      <value value="https://www.idea4rc.eu/"/>
    </telecom>
  </contact>
  <description
               value="It shows how the GeneticTestExpression model is mapped into this guide"/>
  <jurisdiction>
    <coding>
      <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
      <code value="150"/>
      <display value="Europe"/>
    </coding>
  </jurisdiction>
  <group>
    <source
            value="http://hl7.eu/fhir/ig/idea4rc/StructureDefinition/GeneticTestExpression"/>
    <target
            value="http://hl7.eu/fhir/ig/idea4rc/StructureDefinition/Condition-primaryCancer-eu-i4rc"/>
    <element>
      <code value="diagnosisReference"/>
      <display value="Diagnosis reference (M)"/>
      <target>
        <code value="Condition"/>
        <equivalence value="relatedto"/>
      </target>
    </element>
    <element>
      <code value="episodeEventReference"/>
      <display value="Episode Event Reference (M)"/>
      <target>
        <code value="Condition"/>
        <equivalence value="relatedto"/>
      </target>
    </element>
    <element>
      <code value="geneExpressionAnalysisPerformed"/>
      <display value="Gene expression analysis performed (R)"/>
      <target>
        <code value="Condition.evidence:genetic-test.detail.code"/>
        <equivalence value="relatedto"/>
        <comment
                 value="If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='44808037' it is 'true', else it is 'false'"/>
      </target>
    </element>
    <element>
      <code value="dateOfGeneExpression"/>
      <display value="Date of Gene expression (O)"/>
      <target>
        <code value="Condition.evidence:genetic-test.detail.effectiveDate"/>
        <equivalence value="equivalent"/>
        <comment
                 value="Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='44808037'"/>
      </target>
    </element>
    <element>
      <code value="geneMutationAnalysisPerformed"/>
      <display value="Gene mutation analysis performed (R)"/>
      <target>
        <code value="Condition.evidence:genetic-test.detail.code"/>
        <equivalence value="relatedto"/>
        <comment
                 value="If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4038339' it is 'true', else it is 'false'"/>
      </target>
    </element>
    <element>
      <code value="dateOfGeneMutation"/>
      <display value="Date of Gene mutation (O)"/>
      <target>
        <code value="Condition.evidence:genetic-test.detail.effectiveDate"/>
        <equivalence value="equivalent"/>
        <comment
                 value="Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4038339'"/>
      </target>
    </element>
    <element>
      <code value="testsForChromosomeTranslocationsPerformed"/>
      <display value="Tests for chromosome translocations performed (R)"/>
      <target>
        <code value="Condition.evidence:genetic-test.detail.code"/>
        <equivalence value="relatedto"/>
        <comment
                 value="If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4039364' it is 'true', else it is 'false'"/>
      </target>
    </element>
    <element>
      <code value="dateOfTraslocation"/>
      <display value="Date of traslocation (O)"/>
      <target>
        <code value="Condition.evidence:genetic-test.detail.effectiveDate"/>
        <equivalence value="equivalent"/>
        <comment
                 value="Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4039364'"/>
      </target>
    </element>
    <element>
      <code value="ngsPerformed"/>
      <display value="Next generation sequencing (NGS)  performed (R)"/>
      <target>
        <code value="Condition.evidence:genetic-test.detail.code"/>
        <equivalence value="relatedto"/>
        <comment
                 value="If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='40485067' it is 'true', else it is 'false'"/>
      </target>
    </element>
    <element>
      <code value="dateOfNgs"/>
      <display value="Date of NGS (O)"/>
      <target>
        <code value="Condition.evidence:genetic-test.detail.effectiveDate"/>
        <equivalence value="equivalent"/>
        <comment
                 value="Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='40485067'"/>
      </target>
    </element>
    <element>
      <code value="pcrPerformed"/>
      <display value="Polymerase chain reaction (PCR) test performed (R)"/>
      <target>
        <code value="Condition.evidence:genetic-test.detail.code"/>
        <equivalence value="relatedto"/>
        <comment
                 value="If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='40482792' it is 'true', else it is 'false'"/>
      </target>
    </element>
    <element>
      <code value="dateOfPcr"/>
      <display value="Date of PCR (O)"/>
      <target>
        <code value="Condition.evidence:genetic-test.detail.effectiveDate"/>
        <equivalence value="equivalent"/>
        <comment
                 value="Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='40482792'"/>
      </target>
    </element>
    <element>
      <code value="immunohistochemistryPerformed"/>
      <display value="Immunohistochemistry  performed (R)"/>
      <target>
        <code value="Condition.evidence:genetic-test.detail.code"/>
        <equivalence value="relatedto"/>
        <comment
                 value="If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4035726' it is 'true', else it is 'false'"/>
      </target>
    </element>
    <element>
      <code value="dateOfImmunohistochemistry"/>
      <display value="Date of immunohistochemistry (O)"/>
      <target>
        <code value="Condition.evidence:genetic-test.detail.effectiveDate"/>
        <equivalence value="equivalent"/>
        <comment
                 value="Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4035726'"/>
      </target>
    </element>
    <element>
      <code value="ctdnaPerformed"/>
      <display value="Circulating Tumour DNA (ctDNA) performed (R)"/>
      <target>
        <code value="Condition.evidence:genetic-test.detail.code"/>
        <equivalence value="relatedto"/>
        <comment
                 value="If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='19387013' it is 'true', else it is 'false'"/>
      </target>
    </element>
    <element>
      <code value="dateOfCtdna"/>
      <display value="Date of ctDNA (O)"/>
      <target>
        <code value="Condition.evidence:genetic-test.detail.effectiveDate"/>
        <equivalence value="equivalent"/>
        <comment
                 value="Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='19387013'"/>
      </target>
    </element>
  </group>
</ConceptMap>