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:
  extension:
    type: Extension
    url: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-risk-assessment
    index: 0
    slicing:
      slices:
        genomics-risk-assessment:
          match: {}
          schema: {type: Extension, url: 'http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-risk-assessment', index: 0}
          min: 0
  code:
    short: diagnostic-implication
    pattern:
      type: CodeableConcept
      value:
        coding:
        - {code: diagnostic-implication, system: 'http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs'}
    index: 1
  component:
    short: Predicted phenotype
    array: true
    index: 2
    slicing:
      slices:
        predicted-phenotype:
          match: {}
          schema:
            short: Predicted phenotype
            array: true
            index: 2
            elements:
              code:
                short: 81259-4
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 81259-4, system: 'http://loinc.org'}
                index: 3
              value:
                short: Phenotype code, e.g. from SNOMED CT Clinical finding, ICD-10-CM chapters 1-18, or HPO
                choices: [valueCodeableConcept]
                index: 5
              valueCodeableConcept: {type: CodeableConcept, short: 'Phenotype code, e.g. from SNOMED CT Clinical finding, ICD-10-CM chapters 1-18, or HPO', choiceOf: value, index: 6}
            required: [value, valueCodeableConcept]
        mode-of-inheritance:
          match: {}
          schema:
            short: Mode of Inheritance
            index: 7
            elements:
              code:
                short: condition-inheritance
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: condition-inheritance, system: 'http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs'}
                index: 8
              value:
                short: Autosomal dominant | Autosomal recessive | X-linked | ... (more)
                choices: [valueCodeableConcept]
                index: 10
              valueCodeableConcept: {type: CodeableConcept, short: Autosomal dominant | Autosomal recessive | X-linked | ... (more), choiceOf: value, index: 11}
            required: [value, valueCodeableConcept]
        clinical-significance:
          match: {}
          schema:
            short: Clinical significance
            index: 12
            elements:
              code:
                short: 53037-8
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 53037-8, system: 'http://loinc.org'}
                index: 13
              value:
                short: Pathogenic | Likely pathogenic | Uncertain significance | Likely benign | Benign
                choices: [valueCodeableConcept]
                index: 15
              valueCodeableConcept: {type: CodeableConcept, short: Pathogenic | Likely pathogenic | Uncertain significance | Likely benign | Benign, choiceOf: value, index: 16}
            required: [value, valueCodeableConcept]
        functional-effect:
          match: {}
          schema:
            short: Functional Effect
            array: true
            index: 17
            elements:
              code:
                short: functional-effect
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: functional-effect, system: 'http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs'}
                index: 18
              value:
                short: gain of function | loss of function | loss of heterozygosity | decreased transcript level | increased transcipt level | dominant negative variant | ... (more)
                choices: [valueCodeableConcept]
                index: 20
              valueCodeableConcept: {type: CodeableConcept, short: gain of function | loss of function | loss of heterozygosity | decreased transcript level | increased transcipt level | dominant negative variant | ... (more), choiceOf: value, index: 21}
            required: [value, valueCodeableConcept]
package_version: reporting-2.0.0
extensions:
  genomics-risk-assessment: {url: 'http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-risk-assessment', min: 0, type: Extension, index: 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: 2.0.0