description: The Region Studied profile is used to assert actual regions studied for the performed test(s). Intended coverage areas may differ from actual coverage areas (e.g. due to technical limitations during test performance).
package_name: hl7.fhir.uv.genomics
derivation: constraint
name: RegionStudied
type: Observation
elements:
  code:
    short: 53041-0
    pattern:
      type: CodeableConcept
      value:
        coding:
        - {code: 53041-0, system: 'http://loinc.org'}
    index: 0
  value:
    choices: []
    index: 2
  component:
    short: Gene Studied
    index: 3
    slicing:
      slices:
        gene-studied:
          match: {}
          schema:
            short: Gene Studied
            index: 3
            elements:
              code:
                short: 48018-6
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 48018-6, system: 'http://loinc.org'}
                index: 4
              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: 6
              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: 7}
            required: [value, valueCodeableConcept]
        gene-mutations:
          match: {}
          schema:
            short: Gene Mutations ID
            index: 8
            elements:
              code:
                short: 36908-2
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 36908-2, system: 'http://loinc.org'}
                index: 9
              value:
                choices: [valueCodeableConcept]
                index: 11
              valueCodeableConcept: {type: CodeableConcept, choiceOf: value, index: 12}
            required: [value, valueCodeableConcept]
        region-description:
          match: {}
          schema:
            short: Region Description
            index: 13
            elements:
              code:
                short: 81293-3
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 81293-3, system: 'http://loinc.org'}
                index: 14
              value:
                choices: [valueString]
                index: 16
              valueString: {type: string, choiceOf: value, index: 17}
        region-coverage:
          match: {}
          schema:
            short: Region Coverage
            index: 18
            elements:
              code:
                short: region-coverage
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: region-coverage, system: 'http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs'}
                index: 19
              value:
                choices: [valueQuantity]
                index: 21
              valueQuantity: {type: Quantity, choiceOf: value, index: 22}
        ranges-examined:
          match: {}
          schema:
            short: Range(s) of DNA sequence examined
            array: true
            index: 23
            elements:
              code:
                short: 51959-5
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 51959-5, system: 'http://loinc.org'}
                index: 24
              value:
                choices: [valueRange]
                index: 26
              valueRange: {type: Range, choiceOf: value, index: 27}
        coordinate-system:
          match: {}
          schema:
            short: Coordinate System
            index: 28
            elements:
              code:
                short: 92822-6
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 92822-6, system: 'http://loinc.org'}
                index: 29
              value:
                short: 0-based interval counting | 0-based character counting | 1-based character counting
                choices: [valueCodeableConcept]
                index: 31
              valueCodeableConcept: {type: CodeableConcept, short: 0-based interval counting | 0-based character counting | 1-based character counting, choiceOf: value, index: 32}
            required: [value, valueCodeableConcept]
        genomic-ref-seq:
          match: {}
          schema:
            short: Genomic Reference Sequence
            index: 33
            elements:
              code:
                short: 48013-7
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 48013-7, system: 'http://loinc.org'}
                index: 34
              value:
                short: Versioned genomic reference sequence identifier.
                choices: [valueCodeableConcept]
                index: 36
              valueCodeableConcept: {type: CodeableConcept, short: Versioned genomic reference sequence identifier., choiceOf: value, index: 37}
            required: [value, valueCodeableConcept]
        uncallable-regions:
          match: {}
          schema:
            short: Uncallable Sub-regions
            array: true
            index: 38
            elements:
              code:
                short: uncallable-regions
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: uncallable-regions, system: 'http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs'}
                index: 39
              value:
                short: Must be inside the range given by 'ranges examined' in the given reference sequence and coordinate system.
                choices: [valueRange]
                index: 41
              valueRange: {type: Range, short: Must be inside the range given by 'ranges examined' in the given reference sequence and coordinate system., choiceOf: value, index: 42}
package_version: reporting-2.0.0
class: profile
kind: resource
url: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/region-studied
base: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-base
version: 2.0.0