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
abstract: true
type: Observation
elements:
  component:
    short: Gene Studied
    array: true
    index: 0
    slicing:
      slices:
        gene-studied:
          match: {}
          schema:
            short: Gene Studied
            array: true
            index: 0
            elements:
              code:
                short: 48018-6
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 48018-6, system: 'http://loinc.org'}
                index: 1
              value:
                short: The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
                choices: [valueCodeableConcept]
                index: 3
              valueCodeableConcept: {type: CodeableConcept, short: 'The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.', choiceOf: value, index: 4}
            required: [value, valueCodeableConcept]
        cytogenetic-location:
          match: {}
          schema:
            short: Cytogenetic (Chromosome) Location
            array: true
            index: 5
            elements:
              code:
                short: 48001-2
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 48001-2, system: 'http://loinc.org'}
                index: 6
              value:
                short: 'Example: 1q21.1'
                choices: [valueCodeableConcept]
                index: 8
              valueCodeableConcept: {type: CodeableConcept, short: 'Example: 1q21.1', choiceOf: value, index: 9}
            required: [value, valueCodeableConcept]
        reference-sequence-assembly:
          match: {}
          schema:
            short: Human Reference Sequence Assembly
            array: true
            index: 10
            elements:
              code:
                short: 62374-4
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 62374-4, system: 'http://loinc.org'}
                index: 11
              value:
                short: GRCh37 | GRCh38 | ...
                choices: [valueCodeableConcept]
                index: 13
              valueCodeableConcept: {type: CodeableConcept, short: GRCh37 | GRCh38 | ..., choiceOf: value, index: 14}
            required: [value, valueCodeableConcept]
package_version: reporting-2.0.0
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: 2.0.0