description: Observation-related profiles
package_name: hl7.fhir.uv.genomics
derivation: constraint
name: Complex variation
type: Observation
elements:
  code:
    isModifier: false
    short: Genetic variant assessment
    type: CodeableConcept
    mustSupport: true
    pattern:
      type: CodeableConcept
      value:
        coding:
        - {code: 69548-6, system: 'http://loinc.org'}
    index: 0
  valueCodeableConcept:
    isModifier: false
    short: Present|Absent|No call|Indeterminate
    type: CodeableConcept
    mustSupport: true
    binding: {strength: required, valueSet: 'http://loinc.org/vs/LL1971-2'}
    index: 1
  hasMember:
    isModifier: false
    mustSupport: false
    index: 2
    slicing:
      rules: open
      discriminator:
      - {path: resolve().code, type: pattern}
      min: null
      slices:
        described-variant:
          match:
            resolve(): {code: null}
          schema:
            isModifier: false
            refers: ['http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-described-variant']
            type: Reference
            mustSupport: true
            array: true
            index: 3
          min: 0
  component:
    isModifier: false
    mustSupport: false
    index: 4
    slicing:
      rules: open
      discriminator:
      - {path: code, type: pattern}
      min: null
      slices:
        complex-var-code:
          match:
            code:
              coding:
              - {code: 81260-2, system: 'http://loinc.org'}
          schema:
            isModifier: false
            short: Complex genetic variant code
            mustSupport: true
            index: 5
            elements:
              code:
                type: CodeableConcept
                isModifier: false
                mustSupport: true
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 81260-2, system: 'http://loinc.org'}
                index: 6
              valueCodeableConcept: {isModifier: false, type: CodeableConcept, mustSupport: true, index: 7}
            required: [valueCodeableConcept, code]
        complex-var-name:
          match:
            code:
              coding:
              - {code: 81262-8, system: 'http://loinc.org'}
          schema:
            isModifier: false
            short: Complex variant HGVS name
            mustSupport: true
            index: 8
            elements:
              code:
                type: CodeableConcept
                isModifier: false
                mustSupport: true
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 81262-8, system: 'http://loinc.org'}
                index: 9
              valueCodeableConcept: {isModifier: false, type: CodeableConcept, mustSupport: true, index: 10}
            required: [valueCodeableConcept, code]
        complex-var-type:
          match:
            code:
              coding:
              - {code: 81263-6, system: 'http://loinc.org'}
          schema:
            isModifier: false
            short: Complex variant type
            mustSupport: true
            index: 11
            elements:
              code:
                type: CodeableConcept
                isModifier: false
                mustSupport: true
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 81263-6, system: 'http://loinc.org'}
                index: 12
              valueCodeableConcept:
                isModifier: false
                short: Compound heterozygous | Double heterozygous | Haplotype | Hemizygouse
                type: CodeableConcept
                mustSupport: true
                binding: {strength: required, valueSet: 'http://loinc.org/vs/LL3999-1'}
                index: 13
            required: [valueCodeableConcept, code]
package_version: reporting-0.3.0
class: profile
kind: resource
url: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-complex-variant
base: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-comp-gen-finding
version: 0.3.0
required: [valueCodeableConcept, code]