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  1. FHIR Specification Feedback
  2. FHIR-32098

Haplotype and Genotype name should be strings

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    • Icon: Change Request Change Request
    • Resolution: Persuasive with Modification
    • Icon: Medium Medium
    • Genomics Reporting (FHIR)
    • 1.1.0 [deprecated]
    • Clinical Genomics
    • Genomic Finding
      Genotype
      Haplotype
    • 1.4
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      These need to be kept as CodeableConcept, but will add some additional examples (which includes one as Genotype with just string):

       

      Instance: HaplotypeExamplePharmVar01
      InstanceOf: Haplotype
      Description: "Example of a Haplotype using PharmVar"

      Instance: HaplotypeExamplePharmVar02
      InstanceOf: Haplotype
      Description: "Example of a Haplotype using PharmVar"

      Instance: GenotypeExamplePharmVar
      InstanceOf: Genotype
      Description: "Example of a Genotype using Pharmvar Haplotypes"

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      These need to be kept as CodeableConcept, but will add some additional examples (which includes one as Genotype with just string):   Instance: HaplotypeExamplePharmVar01 InstanceOf: Haplotype Description: "Example of a Haplotype using PharmVar" id = "HaplotypeExamplePharmVar01" category.coding = http://terminology.hl7.org/CodeSystem/observation-category#laboratory valueCodeableConcept.coding = http://www.pharmvar.org#PV00155 "CYP2D6*7.001" // https://www.pharmvar.org/api-service/alleles/pv00155 component [gene-studied] .valueCodeableConcept.coding = http://www.genenames.org/geneId#HGNC:2625 "CYP2D6" effectiveDateTime = "2021" specimen = Reference(GenomicSpecimenExample01) subject = Reference(CGPatientExample01) status = #final Instance: HaplotypeExamplePharmVar02 InstanceOf: Haplotype Description: "Example of a Haplotype using PharmVar" id = "HaplotypeExamplePharmVar02" category.coding = http://terminology.hl7.org/CodeSystem/observation-category#laboratory valueCodeableConcept.coding = http://www.pharmvar.org#PV00126 "CYP2D6*1.001" // https://www.pharmvar.org/api-service/alleles/pv00126 component [gene-studied] .valueCodeableConcept.coding = http://www.genenames.org/geneId#HGNC:2625 "CYP2D6" effectiveDateTime = "2021" specimen = Reference(GenomicSpecimenExample01) subject = Reference(CGPatientExample01) status = #final Instance: GenotypeExamplePharmVar InstanceOf: Genotype Description: "Example of a Genotype using Pharmvar Haplotypes" id = "GenotypeExamplePharmVar" category.coding = http://terminology.hl7.org/CodeSystem/observation-category#laboratory valueCodeableConcept.text = "CYP2D6*7.001 / CYP2D6*1.001" component [gene-studied] .valueCodeableConcept.coding = http://www.genenames.org/geneId#HGNC:2625 "CYP2D6" effectiveDateTime = "2021" specimen = Reference(GenomicSpecimenExample01) subject = Reference(CGPatientExample01) status = #final derivedFrom [+] = Reference(HaplotypeExamplePharmVar01) derivedFrom [+] = Reference(HaplotypeExamplePharmVar02)
    • Arthur Herman / Mullai Murugan: 10-0-1
    • Enhancement
    • Non-substantive

    Description

      Haplotype name and Genotype name are required and a codeable concept, but seems like it should just be a string.

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            rkutner Rachel Kutner (Inactive)
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              Updated:
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