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

Logical Model: GeneticTestExpressionI4RC - Detailed Descriptions

Draft as of 2025-01-13

Definitions for the GeneticTestExpression logical model.

Guidance on how to interpret the contents of this table can be found here

0. GeneticTestExpression
Definition

Genetic Test Expression Maturity Level: 0 Draft

ShortGenetic Test Expression
Control0..*
Is Modifierfalse
Logical ModelInstances of this logical model are not marked to be the target of a Reference
2. GeneticTestExpression.diagnosisReference
Definition

Diagnosis reference in case the treatment was done for baseline

ShortDiagnosis reference (M)
Control1..*
Typehttp://hl7.eu/fhir/ig/idea4rc/StructureDefinition/Diagnosis
Obligations
    ObligationsActor
    SHALL:handleHead and Neck
    4. GeneticTestExpression.episodeEvent
    Definition

    EpisodeEvent element containing the data regarding the patient's cancer

    ShortEpisode Event Reference (M)
    Control1..*
    Typehttp://hl7.eu/fhir/ig/idea4rc/StructureDefinition/EpisodeEvent
    Obligations
      ObligationsActor
      SHALL:handleHead and Neck
      6. GeneticTestExpression.geneExpressionAnalysisPerformed
      Definition

      Clarifies whether a gene expression analysis is performed

      ShortGene expression analysis performed (R)
      Comments

      Gene expression assay - 44808037

      Control0..*
      Typeboolean
      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
      Obligations
        ObligationsActor
        SHALL:handleHead and Neck
        8. GeneticTestExpression.dateOfGeneExpression
        Definition

        Date of the gene expression analysis

        ShortDate of Gene expression (O)
        Control0..*
        Typedate
        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
        Obligations
          ObligationsActor
          SHALL:handleHead and Neck
          10. GeneticTestExpression.geneMutationAnalysisPerformed
          Definition

          Clarifies whether a gene mutation analysis is performed

          ShortGene mutation analysis performed (R)
          Comments

          Gene mutation analysis - 4038339

          Control0..*
          Typeboolean
          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
          Obligations
            ObligationsActor
            SHALL:handleHead and Neck
            12. GeneticTestExpression.dateOfGeneMutation
            Definition

            Date of the gene mutation analysis

            ShortDate of Gene mutation (O)
            Control0..*
            Typedate
            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
            Obligations
              ObligationsActor
              SHALL:handleHead and Neck
              14. GeneticTestExpression.testsForChromosomeTranslocationsPerformed
              Definition

              Clarifies whether a tests for chromosome translocations is performed

              ShortTests for chromosome translocations performed (R)
              Comments

              Translocation analysis - 4039364

              Control0..*
              Typeboolean
              Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
              Obligations
                ObligationsActor
                SHALL:handleHead and Neck
                16. GeneticTestExpression.dateOfTraslocation
                Definition

                Date of the Chromosome translocation test

                ShortDate of traslocation (O)
                Control0..*
                Typedate
                Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                Obligations
                  ObligationsActor
                  SHALL:handleHead and Neck
                  18. GeneticTestExpression.ngsPerformed
                  Definition

                  Clarifies whether a NGS analysis is performed

                  ShortNext generation sequencing (NGS) performed (R)
                  Comments

                  Analysis using chain termination sequencing technique - 40485067

                  Control0..*
                  Typeboolean
                  Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                  Obligations
                    ObligationsActor
                    SHALL:handleHead and Neck
                    20. GeneticTestExpression.dateOfNgs
                    Definition

                    Date of the NGS analysis

                    ShortDate of NGS (O)
                    Control0..*
                    Typedate
                    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                    Obligations
                      ObligationsActor
                      SHALL:handleHead and Neck
                      22. GeneticTestExpression.pcrPerformed
                      Definition

                      Clarifies whether a PCR analysis is performed

                      ShortPolymerase chain reaction (PCR) test performed (R)
                      Comments

                      Quantitative PCR analysis - 40482792

                      Control0..*
                      Typeboolean
                      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                      Obligations
                        ObligationsActor
                        SHALL:handleHead and Neck
                        24. GeneticTestExpression.dateOfPcr
                        Definition

                        Date of the PCR analysis

                        ShortDate of PCR (O)
                        Control0..*
                        Typedate
                        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                        Obligations
                          ObligationsActor
                          SHALL:handleHead and Neck
                          26. GeneticTestExpression.immunohistochemistryPerformed
                          Definition

                          Clarifies whether a immunohiostochemestry analysis is performed

                          ShortImmunohistochemistry performed (R)
                          Comments

                          Immunohistochemistry procedure - 4035726

                          Control0..*
                          Typeboolean
                          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                          Obligations
                            ObligationsActor
                            SHALL:handleHead and Neck
                            28. GeneticTestExpression.dateOfImmunohistochemistry
                            Definition

                            Date of the immunohiostochemestry analysis

                            ShortDate of immunohistochemistry (O)
                            Control0..*
                            Typedate
                            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                            Obligations
                              ObligationsActor
                              SHALL:handleHead and Neck
                              30. GeneticTestExpression.ctdnaPerformed
                              Definition

                              Clarifies whether a ctDNA analysis is performed

                              ShortCirculating Tumour DNA (ctDNA) performed (R)
                              Comments

                              Circulating Tumor DNA - 19387013

                              Control0..*
                              Typeboolean
                              Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                              Obligations
                                ObligationsActor
                                SHALL:handleHead and Neck
                                32. GeneticTestExpression.dateOfCtdna
                                Definition

                                Date of the ctDNA analysis

                                ShortDate of ctDNA (O)
                                Control0..*
                                Typedate
                                Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                Obligations
                                  ObligationsActor
                                  SHALL:handleHead and Neck

                                  Guidance on how to interpret the contents of this table can be found here

                                  0. GeneticTestExpression
                                  Definition

                                  Genetic Test Expression Maturity Level: 0 Draft

                                  ShortGenetic Test Expression
                                  Logical ModelInstances of this logical model are not marked to be the target of a Reference
                                  2. GeneticTestExpression.diagnosisReference
                                  Definition

                                  Diagnosis reference in case the treatment was done for baseline

                                  ShortDiagnosis reference (M)
                                  Control1..*
                                  Typehttp://hl7.eu/fhir/ig/idea4rc/StructureDefinition/Diagnosis
                                  Obligations
                                    ObligationsActor
                                    SHALL:handleHead and Neck
                                    4. GeneticTestExpression.episodeEvent
                                    Definition

                                    EpisodeEvent element containing the data regarding the patient's cancer

                                    ShortEpisode Event Reference (M)
                                    Control1..*
                                    Typehttp://hl7.eu/fhir/ig/idea4rc/StructureDefinition/EpisodeEvent
                                    Obligations
                                      ObligationsActor
                                      SHALL:handleHead and Neck
                                      6. GeneticTestExpression.geneExpressionAnalysisPerformed
                                      Definition

                                      Clarifies whether a gene expression analysis is performed

                                      ShortGene expression analysis performed (R)
                                      Comments

                                      Gene expression assay - 44808037

                                      Control0..*
                                      Typeboolean
                                      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                      Obligations
                                        ObligationsActor
                                        SHALL:handleHead and Neck
                                        8. GeneticTestExpression.dateOfGeneExpression
                                        Definition

                                        Date of the gene expression analysis

                                        ShortDate of Gene expression (O)
                                        Control0..*
                                        Typedate
                                        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                        Obligations
                                          ObligationsActor
                                          SHALL:handleHead and Neck
                                          10. GeneticTestExpression.geneMutationAnalysisPerformed
                                          Definition

                                          Clarifies whether a gene mutation analysis is performed

                                          ShortGene mutation analysis performed (R)
                                          Comments

                                          Gene mutation analysis - 4038339

                                          Control0..*
                                          Typeboolean
                                          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                          Obligations
                                            ObligationsActor
                                            SHALL:handleHead and Neck
                                            12. GeneticTestExpression.dateOfGeneMutation
                                            Definition

                                            Date of the gene mutation analysis

                                            ShortDate of Gene mutation (O)
                                            Control0..*
                                            Typedate
                                            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                            Obligations
                                              ObligationsActor
                                              SHALL:handleHead and Neck
                                              14. GeneticTestExpression.testsForChromosomeTranslocationsPerformed
                                              Definition

                                              Clarifies whether a tests for chromosome translocations is performed

                                              ShortTests for chromosome translocations performed (R)
                                              Comments

                                              Translocation analysis - 4039364

                                              Control0..*
                                              Typeboolean
                                              Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                              Obligations
                                                ObligationsActor
                                                SHALL:handleHead and Neck
                                                16. GeneticTestExpression.dateOfTraslocation
                                                Definition

                                                Date of the Chromosome translocation test

                                                ShortDate of traslocation (O)
                                                Control0..*
                                                Typedate
                                                Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                Obligations
                                                  ObligationsActor
                                                  SHALL:handleHead and Neck
                                                  18. GeneticTestExpression.ngsPerformed
                                                  Definition

                                                  Clarifies whether a NGS analysis is performed

                                                  ShortNext generation sequencing (NGS) performed (R)
                                                  Comments

                                                  Analysis using chain termination sequencing technique - 40485067

                                                  Control0..*
                                                  Typeboolean
                                                  Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                  Obligations
                                                    ObligationsActor
                                                    SHALL:handleHead and Neck
                                                    20. GeneticTestExpression.dateOfNgs
                                                    Definition

                                                    Date of the NGS analysis

                                                    ShortDate of NGS (O)
                                                    Control0..*
                                                    Typedate
                                                    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                    Obligations
                                                      ObligationsActor
                                                      SHALL:handleHead and Neck
                                                      22. GeneticTestExpression.pcrPerformed
                                                      Definition

                                                      Clarifies whether a PCR analysis is performed

                                                      ShortPolymerase chain reaction (PCR) test performed (R)
                                                      Comments

                                                      Quantitative PCR analysis - 40482792

                                                      Control0..*
                                                      Typeboolean
                                                      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                      Obligations
                                                        ObligationsActor
                                                        SHALL:handleHead and Neck
                                                        24. GeneticTestExpression.dateOfPcr
                                                        Definition

                                                        Date of the PCR analysis

                                                        ShortDate of PCR (O)
                                                        Control0..*
                                                        Typedate
                                                        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                        Obligations
                                                          ObligationsActor
                                                          SHALL:handleHead and Neck
                                                          26. GeneticTestExpression.immunohistochemistryPerformed
                                                          Definition

                                                          Clarifies whether a immunohiostochemestry analysis is performed

                                                          ShortImmunohistochemistry performed (R)
                                                          Comments

                                                          Immunohistochemistry procedure - 4035726

                                                          Control0..*
                                                          Typeboolean
                                                          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                          Obligations
                                                            ObligationsActor
                                                            SHALL:handleHead and Neck
                                                            28. GeneticTestExpression.dateOfImmunohistochemistry
                                                            Definition

                                                            Date of the immunohiostochemestry analysis

                                                            ShortDate of immunohistochemistry (O)
                                                            Control0..*
                                                            Typedate
                                                            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                            Obligations
                                                              ObligationsActor
                                                              SHALL:handleHead and Neck
                                                              30. GeneticTestExpression.ctdnaPerformed
                                                              Definition

                                                              Clarifies whether a ctDNA analysis is performed

                                                              ShortCirculating Tumour DNA (ctDNA) performed (R)
                                                              Comments

                                                              Circulating Tumor DNA - 19387013

                                                              Control0..*
                                                              Typeboolean
                                                              Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                              Obligations
                                                                ObligationsActor
                                                                SHALL:handleHead and Neck
                                                                32. GeneticTestExpression.dateOfCtdna
                                                                Definition

                                                                Date of the ctDNA analysis

                                                                ShortDate of ctDNA (O)
                                                                Control0..*
                                                                Typedate
                                                                Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                Obligations
                                                                  ObligationsActor
                                                                  SHALL:handleHead and Neck

                                                                  Guidance on how to interpret the contents of this table can be found here

                                                                  0. GeneticTestExpression
                                                                  Definition

                                                                  Genetic Test Expression Maturity Level: 0 Draft

                                                                  ShortGenetic Test Expression
                                                                  Control0..*
                                                                  Is Modifierfalse
                                                                  Logical ModelInstances of this logical model are not marked to be the target of a Reference
                                                                  2. GeneticTestExpression.diagnosisReference
                                                                  Definition

                                                                  Diagnosis reference in case the treatment was done for baseline

                                                                  ShortDiagnosis reference (M)
                                                                  Control1..*
                                                                  Typehttp://hl7.eu/fhir/ig/idea4rc/StructureDefinition/Diagnosis
                                                                  Obligations
                                                                    ObligationsActor
                                                                    SHALL:handleHead and Neck
                                                                    4. GeneticTestExpression.episodeEvent
                                                                    Definition

                                                                    EpisodeEvent element containing the data regarding the patient's cancer

                                                                    ShortEpisode Event Reference (M)
                                                                    Control1..*
                                                                    Typehttp://hl7.eu/fhir/ig/idea4rc/StructureDefinition/EpisodeEvent
                                                                    Obligations
                                                                      ObligationsActor
                                                                      SHALL:handleHead and Neck
                                                                      6. GeneticTestExpression.geneExpressionAnalysisPerformed
                                                                      Definition

                                                                      Clarifies whether a gene expression analysis is performed

                                                                      ShortGene expression analysis performed (R)
                                                                      Comments

                                                                      Gene expression assay - 44808037

                                                                      Control0..*
                                                                      Typeboolean
                                                                      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                      Obligations
                                                                        ObligationsActor
                                                                        SHALL:handleHead and Neck
                                                                        8. GeneticTestExpression.dateOfGeneExpression
                                                                        Definition

                                                                        Date of the gene expression analysis

                                                                        ShortDate of Gene expression (O)
                                                                        Control0..*
                                                                        Typedate
                                                                        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                        Obligations
                                                                          ObligationsActor
                                                                          SHALL:handleHead and Neck
                                                                          10. GeneticTestExpression.geneMutationAnalysisPerformed
                                                                          Definition

                                                                          Clarifies whether a gene mutation analysis is performed

                                                                          ShortGene mutation analysis performed (R)
                                                                          Comments

                                                                          Gene mutation analysis - 4038339

                                                                          Control0..*
                                                                          Typeboolean
                                                                          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                          Obligations
                                                                            ObligationsActor
                                                                            SHALL:handleHead and Neck
                                                                            12. GeneticTestExpression.dateOfGeneMutation
                                                                            Definition

                                                                            Date of the gene mutation analysis

                                                                            ShortDate of Gene mutation (O)
                                                                            Control0..*
                                                                            Typedate
                                                                            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                            Obligations
                                                                              ObligationsActor
                                                                              SHALL:handleHead and Neck
                                                                              14. GeneticTestExpression.testsForChromosomeTranslocationsPerformed
                                                                              Definition

                                                                              Clarifies whether a tests for chromosome translocations is performed

                                                                              ShortTests for chromosome translocations performed (R)
                                                                              Comments

                                                                              Translocation analysis - 4039364

                                                                              Control0..*
                                                                              Typeboolean
                                                                              Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                              Obligations
                                                                                ObligationsActor
                                                                                SHALL:handleHead and Neck
                                                                                16. GeneticTestExpression.dateOfTraslocation
                                                                                Definition

                                                                                Date of the Chromosome translocation test

                                                                                ShortDate of traslocation (O)
                                                                                Control0..*
                                                                                Typedate
                                                                                Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                                Obligations
                                                                                  ObligationsActor
                                                                                  SHALL:handleHead and Neck
                                                                                  18. GeneticTestExpression.ngsPerformed
                                                                                  Definition

                                                                                  Clarifies whether a NGS analysis is performed

                                                                                  ShortNext generation sequencing (NGS) performed (R)
                                                                                  Comments

                                                                                  Analysis using chain termination sequencing technique - 40485067

                                                                                  Control0..*
                                                                                  Typeboolean
                                                                                  Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                                  Obligations
                                                                                    ObligationsActor
                                                                                    SHALL:handleHead and Neck
                                                                                    20. GeneticTestExpression.dateOfNgs
                                                                                    Definition

                                                                                    Date of the NGS analysis

                                                                                    ShortDate of NGS (O)
                                                                                    Control0..*
                                                                                    Typedate
                                                                                    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                                    Obligations
                                                                                      ObligationsActor
                                                                                      SHALL:handleHead and Neck
                                                                                      22. GeneticTestExpression.pcrPerformed
                                                                                      Definition

                                                                                      Clarifies whether a PCR analysis is performed

                                                                                      ShortPolymerase chain reaction (PCR) test performed (R)
                                                                                      Comments

                                                                                      Quantitative PCR analysis - 40482792

                                                                                      Control0..*
                                                                                      Typeboolean
                                                                                      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                                      Obligations
                                                                                        ObligationsActor
                                                                                        SHALL:handleHead and Neck
                                                                                        24. GeneticTestExpression.dateOfPcr
                                                                                        Definition

                                                                                        Date of the PCR analysis

                                                                                        ShortDate of PCR (O)
                                                                                        Control0..*
                                                                                        Typedate
                                                                                        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                                        Obligations
                                                                                          ObligationsActor
                                                                                          SHALL:handleHead and Neck
                                                                                          26. GeneticTestExpression.immunohistochemistryPerformed
                                                                                          Definition

                                                                                          Clarifies whether a immunohiostochemestry analysis is performed

                                                                                          ShortImmunohistochemistry performed (R)
                                                                                          Comments

                                                                                          Immunohistochemistry procedure - 4035726

                                                                                          Control0..*
                                                                                          Typeboolean
                                                                                          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                                          Obligations
                                                                                            ObligationsActor
                                                                                            SHALL:handleHead and Neck
                                                                                            28. GeneticTestExpression.dateOfImmunohistochemistry
                                                                                            Definition

                                                                                            Date of the immunohiostochemestry analysis

                                                                                            ShortDate of immunohistochemistry (O)
                                                                                            Control0..*
                                                                                            Typedate
                                                                                            Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                                            Obligations
                                                                                              ObligationsActor
                                                                                              SHALL:handleHead and Neck
                                                                                              30. GeneticTestExpression.ctdnaPerformed
                                                                                              Definition

                                                                                              Clarifies whether a ctDNA analysis is performed

                                                                                              ShortCirculating Tumour DNA (ctDNA) performed (R)
                                                                                              Comments

                                                                                              Circulating Tumor DNA - 19387013

                                                                                              Control0..*
                                                                                              Typeboolean
                                                                                              Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                                              Obligations
                                                                                                ObligationsActor
                                                                                                SHALL:handleHead and Neck
                                                                                                32. GeneticTestExpression.dateOfCtdna
                                                                                                Definition

                                                                                                Date of the ctDNA analysis

                                                                                                ShortDate of ctDNA (O)
                                                                                                Control0..*
                                                                                                Typedate
                                                                                                Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
                                                                                                Obligations
                                                                                                  ObligationsActor
                                                                                                  SHALL:handleHead and Neck