description: Observation stating a linkage between one or more genotype/haplotype/variation Observations and evidence for or against a particular disease, condition, or cancer diagnosis.
package_name: hl7.fhir.uv.genomics
derivation: constraint
name: DiagnosticImplication
type: Observation
elements:
  code:
    pattern:
      type: CodeableConcept
      value:
        coding:
        - {code: diagnostic-implication, system: 'http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes'}
    index: 0
  component:
    short: Associated phenotype
    index: 1
    slicing:
      slices:
        associated-phenotype:
          match: {}
          schema:
            short: Associated phenotype
            index: 1
            elements:
              code:
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 81259-4, system: 'http://loinc.org'}
                index: 2
              value:
                choices: [valueCodeableConcept]
                index: 4
              valueCodeableConcept: {type: CodeableConcept, choiceOf: value, index: 5}
            required: [value, valueCodeableConcept]
        mode-of-inheritance:
          match: {}
          schema:
            short: Mode of Inheritance
            index: 6
            elements:
              code:
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: condition-inheritance, system: 'http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes'}
                index: 7
              value:
                choices: [valueCodeableConcept]
                index: 9
              valueCodeableConcept: {type: CodeableConcept, choiceOf: value, index: 10}
            required: [value, valueCodeableConcept]
        clinical-significance:
          match: {}
          schema:
            short: Clinical significance
            index: 11
            elements:
              code:
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 53037-8, system: 'http://loinc.org'}
                index: 12
              value:
                choices: [valueCodeableConcept]
                index: 14
              valueCodeableConcept: {type: CodeableConcept, choiceOf: value, index: 15}
            required: [value, valueCodeableConcept]
        functional-effect:
          match: {}
          schema:
            short: Functional Effect
            array: true
            index: 16
            elements:
              code:
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: functional-effect, system: 'http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes'}
                index: 17
              value:
                choices: [valueCodeableConcept]
                index: 19
              valueCodeableConcept: {type: CodeableConcept, choiceOf: value, index: 20}
            required: [value, valueCodeableConcept]
package_version: reporting-1.1.0
class: profile
kind: resource
url: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication
base: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/implication
version: 1.1.0