description: Properties common to genetic findings whose results are expressed as computable discrete elements (e.g. genotypes, haplotypes, variants, etc.).
package_name: hl7.fhir.uv.genomics
derivation: constraint
name: GenomicFinding
type: Observation
elements:
  specimen:
    type: Reference
    refers: ['http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/specimen']
    index: 0
  component:
    short: Gene studied [ID]
    array: true
    index: 1
    slicing:
      slices:
        gene-studied:
          match: {}
          schema:
            short: Gene studied [ID]
            array: true
            index: 1
            elements:
              code:
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 48018-6, system: 'http://loinc.org'}
                index: 2
              value:
                short: If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
                choices: [valueCodeableConcept]
                index: 4
              valueCodeableConcept: {type: CodeableConcept, short: 'If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.', choiceOf: value, index: 5}
            required: [value, valueCodeableConcept]
        CytogenicLocation:
          match: {}
          schema:
            short: Cytogenetic (chromosome) location
            array: true
            index: 6
            elements:
              code:
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 48001-2, system: 'http://loinc.org'}
                index: 7
              value:
                choices: [valueCodeableConcept]
                index: 9
              valueCodeableConcept: {type: CodeableConcept, choiceOf: value, index: 10}
            required: [value, valueCodeableConcept]
        RefSequenceAssembly:
          match: {}
          schema:
            short: Human reference sequence assembly version
            array: true
            index: 11
            elements:
              code:
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 62374-4, system: 'http://loinc.org'}
                index: 12
              value:
                choices: [valueCodeableConcept]
                index: 14
              valueCodeableConcept: {type: CodeableConcept, choiceOf: value, index: 15}
            required: [value, valueCodeableConcept]
package_version: reporting-1.1.0
class: profile
kind: resource
url: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/finding
base: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-base
version: 1.1.0