description: Observation-related profiles
package_name: hl7.fhir.uv.genomics
derivation: constraint
name: Computable Genetic Finding
type: Observation
elements:
  specimen: {short: Specimen examined, isModifier: false, mustSupport: true, index: 0}
  device:
    type: Reference
    isModifier: false
    mustSupport: false
    refers: ['http://hl7.org/fhir/StructureDefinition/Device', 'http://hl7.org/fhir/StructureDefinition/DeviceMetric', 'http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/device-fish-probe', 'http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/device-micro-plat']
    array: true
    index: 1
  component:
    isModifier: false
    mustSupport: true
    index: 2
    slicing:
      rules: open
      discriminator:
      - {path: code, type: pattern}
      min: null
      slices:
        gene-studied:
          match:
            code:
              coding:
              - {code: 48018-6, system: 'http://loinc.org'}
          schema:
            isModifier: false
            short: Gene studied ID
            mustSupport: true
            array: true
            index: 3
            elements:
              code:
                type: CodeableConcept
                isModifier: false
                mustSupport: true
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 48018-6, system: 'http://loinc.org'}
                index: 4
              valueCodeableConcept:
                isModifier: false
                short: If no HGNC code issued for this gene yet, NCBI gene IDs SHALL  be used.
                type: CodeableConcept
                mustSupport: true
                binding: {strength: extensible, valueSet: 'http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc'}
                index: 5
            required: [valueCodeableConcept, code]
        cytogenetic-location:
          match:
            code:
              coding:
              - {code: 48001-2, system: 'http://loinc.org'}
          schema:
            short: Cytogenetic (chromosome) location
            isModifier: false
            mustSupport: true
            array: true
            index: 6
            elements:
              code:
                type: CodeableConcept
                isModifier: false
                mustSupport: true
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 48001-2, system: 'http://loinc.org'}
                index: 7
              valueCodeableConcept: {isModifier: false, type: CodeableConcept, mustSupport: true, index: 8}
            required: [valueCodeableConcept, code]
        ref-sequence-assembly:
          match:
            code:
              coding:
              - {code: 62374-4, system: 'http://loinc.org'}
          schema:
            short: Human reference sequence assembly version
            isModifier: false
            mustSupport: true
            array: true
            index: 9
            elements:
              code:
                type: CodeableConcept
                isModifier: false
                mustSupport: true
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 62374-4, system: 'http://loinc.org'}
                index: 10
              valueCodeableConcept:
                type: CodeableConcept
                binding: {strength: preferred, valueSet: 'http://loinc.org/vs/LL1040-6'}
                isModifier: false
                mustSupport: true
                index: 11
            required: [valueCodeableConcept, code]
package_version: reporting-0.3.0
class: profile
kind: resource
url: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-comp-gen-finding
base: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-base
version: 0.3.0
required: [specimen]