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 - JSON Representation

Draft as of 2025-09-10

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{
  "resourceType" : "ConceptMap",
  "id" : "geneticTestExpression2FHIR",
  "text" : {
    "status" : "generated",
    "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\u00a0(PCR)\u00a0test 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>"
  },
  "url" : "http://hl7.eu/fhir/ig/idea4rc/ConceptMap/geneticTestExpression2FHIR",
  "version" : "0.1.0",
  "name" : "GeneticTestExpression2FHIR",
  "title" : "GeneticTestExpression Model to this guide Map",
  "status" : "draft",
  "experimental" : true,
  "date" : "2025-09-10T15:18:34+00:00",
  "publisher" : "IDEA4RC Project",
  "contact" : [
    {
      "name" : "IDEA4RC Project",
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://www.idea4rc.eu/"
        }
      ]
    },
    {
      "name" : "IDEA4RC Project",
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://www.idea4rc.eu/"
        }
      ]
    }
  ],
  "description" : "It shows how the GeneticTestExpression model is mapped into this guide",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code" : "150",
          "display" : "Europe"
        }
      ]
    }
  ],
  "group" : [
    {
      "source" : "http://hl7.eu/fhir/ig/idea4rc/StructureDefinition/GeneticTestExpression",
      "target" : "http://hl7.eu/fhir/ig/idea4rc/StructureDefinition/Condition-primaryCancer-eu-i4rc",
      "element" : [
        {
          "code" : "diagnosisReference",
          "display" : "Diagnosis reference (M)",
          "target" : [
            {
              "code" : "Condition",
              "equivalence" : "relatedto"
            }
          ]
        },
        {
          "code" : "episodeEventReference",
          "display" : "Episode Event Reference (M)",
          "target" : [
            {
              "code" : "Condition",
              "equivalence" : "relatedto"
            }
          ]
        },
        {
          "code" : "geneExpressionAnalysisPerformed",
          "display" : "Gene expression analysis performed (R)",
          "target" : [
            {
              "code" : "Condition.evidence:genetic-test.detail.code",
              "equivalence" : "relatedto",
              "comment" : "If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='44808037' it is 'true', else it is 'false'"
            }
          ]
        },
        {
          "code" : "dateOfGeneExpression",
          "display" : "Date of Gene expression (O)",
          "target" : [
            {
              "code" : "Condition.evidence:genetic-test.detail.effectiveDate",
              "equivalence" : "equivalent",
              "comment" : "Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='44808037'"
            }
          ]
        },
        {
          "code" : "geneMutationAnalysisPerformed",
          "display" : "Gene mutation analysis performed (R)",
          "target" : [
            {
              "code" : "Condition.evidence:genetic-test.detail.code",
              "equivalence" : "relatedto",
              "comment" : "If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4038339' it is 'true', else it is 'false'"
            }
          ]
        },
        {
          "code" : "dateOfGeneMutation",
          "display" : "Date of Gene mutation (O)",
          "target" : [
            {
              "code" : "Condition.evidence:genetic-test.detail.effectiveDate",
              "equivalence" : "equivalent",
              "comment" : "Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4038339'"
            }
          ]
        },
        {
          "code" : "testsForChromosomeTranslocationsPerformed",
          "display" : "Tests for chromosome translocations performed (R)",
          "target" : [
            {
              "code" : "Condition.evidence:genetic-test.detail.code",
              "equivalence" : "relatedto",
              "comment" : "If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4039364' it is 'true', else it is 'false'"
            }
          ]
        },
        {
          "code" : "dateOfTraslocation",
          "display" : "Date of traslocation (O)",
          "target" : [
            {
              "code" : "Condition.evidence:genetic-test.detail.effectiveDate",
              "equivalence" : "equivalent",
              "comment" : "Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4039364'"
            }
          ]
        },
        {
          "code" : "ngsPerformed",
          "display" : "Next generation sequencing (NGS)  performed (R)",
          "target" : [
            {
              "code" : "Condition.evidence:genetic-test.detail.code",
              "equivalence" : "relatedto",
              "comment" : "If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='40485067' it is 'true', else it is 'false'"
            }
          ]
        },
        {
          "code" : "dateOfNgs",
          "display" : "Date of NGS (O)",
          "target" : [
            {
              "code" : "Condition.evidence:genetic-test.detail.effectiveDate",
              "equivalence" : "equivalent",
              "comment" : "Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='40485067'"
            }
          ]
        },
        {
          "code" : "pcrPerformed",
          "display" : "Polymerase chain reaction\u00a0(PCR)\u00a0test performed (R)",
          "target" : [
            {
              "code" : "Condition.evidence:genetic-test.detail.code",
              "equivalence" : "relatedto",
              "comment" : "If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='40482792' it is 'true', else it is 'false'"
            }
          ]
        },
        {
          "code" : "dateOfPcr",
          "display" : "Date of PCR (O)",
          "target" : [
            {
              "code" : "Condition.evidence:genetic-test.detail.effectiveDate",
              "equivalence" : "equivalent",
              "comment" : "Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='40482792'"
            }
          ]
        },
        {
          "code" : "immunohistochemistryPerformed",
          "display" : "Immunohistochemistry  performed (R)",
          "target" : [
            {
              "code" : "Condition.evidence:genetic-test.detail.code",
              "equivalence" : "relatedto",
              "comment" : "If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4035726' it is 'true', else it is 'false'"
            }
          ]
        },
        {
          "code" : "dateOfImmunohistochemistry",
          "display" : "Date of immunohistochemistry (O)",
          "target" : [
            {
              "code" : "Condition.evidence:genetic-test.detail.effectiveDate",
              "equivalence" : "equivalent",
              "comment" : "Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='4035726'"
            }
          ]
        },
        {
          "code" : "ctdnaPerformed",
          "display" : "Circulating Tumour DNA (ctDNA) performed (R)",
          "target" : [
            {
              "code" : "Condition.evidence:genetic-test.detail.code",
              "equivalence" : "relatedto",
              "comment" : "If Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='19387013' it is 'true', else it is 'false'"
            }
          ]
        },
        {
          "code" : "dateOfCtdna",
          "display" : "Date of ctDNA (O)",
          "target" : [
            {
              "code" : "Condition.evidence:genetic-test.detail.effectiveDate",
              "equivalence" : "equivalent",
              "comment" : "Where Condition.evidence.detail.ofType(Observation) and Condition.evidence.detail.resolve().code='19387013'"
            }
          ]
        }
      ]
    }
  ]
}