description: Observation-related profiles
package_name: hl7.fhir.uv.genomics
derivation: constraint
name: Inherited Disease Pathogenicity
type: Observation
elements:
  code:
    isModifier: false
    short: Genetic variation clinical significance
    type: CodeableConcept
    mustSupport: true
    pattern:
      type: CodeableConcept
      value:
        coding:
        - {code: 53037-8, system: 'http://loinc.org'}
    index: 0
  valueCodeableConcept:
    isModifier: false
    short: Pathogenic | Likely pathogenic | Uncertain significance | Likely benign | Benign
    type: CodeableConcept
    mustSupport: true
    binding: {strength: required, valueSet: 'http://loinc.org/vs/LL4034-6'}
    index: 1
  component:
    isModifier: false
    mustSupport: false
    index: 2
    slicing:
      rules: open
      discriminator:
      - {path: code, type: pattern}
      min: null
      slices:
        associated-phenotype:
          match:
            code:
              coding:
              - {code: 81259-4, system: 'http://loinc.org'}
          schema:
            isModifier: false
            short: Associated phenotype
            mustSupport: true
            index: 3
            elements:
              code:
                type: CodeableConcept
                isModifier: false
                mustSupport: true
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 81259-4, system: 'http://loinc.org'}
                index: 4
              valueCodeableConcept: {isModifier: false, type: CodeableConcept, mustSupport: true, index: 5}
            required: [valueCodeableConcept, code]
        mode-of-inheritance:
          match:
            code:
              coding:
              - {code: TBD-mode-of-inheritance, system: 'http://loinc.org'}
          schema:
            short: Mode of Inheritance
            isModifier: false
            mustSupport: true
            index: 6
            elements:
              code:
                type: CodeableConcept
                isModifier: false
                mustSupport: true
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: TBD-mode-of-inheritance, system: 'http://loinc.org'}
                index: 7
              valueCodeableConcept: {isModifier: false, short: Autosomal dominant|Autosomal recessive|X-linked dominant|X-linked recessive|Y-linked|Codominant|Mitochondrial, type: CodeableConcept, mustSupport: true, index: 8}
            required: [valueCodeableConcept, code]
package_version: reporting-0.3.0
class: profile
kind: resource
url: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-inh-dis-path
base: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-impact
version: 0.3.0
required: [valueCodeableConcept, code]