description: A subset of genes or genomic regions of interest in a targeted resequencing study.
package_name: hl7.fhir.us.mcode
derivation: constraint
name: GenomicRegionStudied
type: Observation
elements:
  code:
    pattern:
      type: CodeableConcept
      value:
        coding:
        - {code: 53041-0, system: 'http://loinc.org'}
    index: 0
  value:
    choices: []
    index: 2
  component:
    mustSupport: true
    index: 3
    elements:
      code: {mustSupport: true, index: 4}
      value:
        mustSupport: true
        choices: []
        index: 6
    slicing:
      rules: open
      description: Slice based on the component.code pattern
      discriminator:
      - {path: code, type: pattern}
      min: null
      slices:
        geneMutations:
          match:
            code:
              coding:
              - {code: 36908-2, system: 'http://loinc.org'}
          schema:
            short: Gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
            mustSupport: true
            array: true
            index: 7
            elements:
              code:
                mustSupport: true
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 36908-2, system: 'http://loinc.org'}
                index: 8
              value:
                mustSupport: true
                choices: [valueCodeableConcept]
                index: 10
              valueCodeableConcept: {type: CodeableConcept, mustSupport: true, choiceOf: value, index: 11}
        geneStudied:
          match:
            code:
              coding:
              - {code: 48018-6, system: 'http://loinc.org'}
          schema:
            short: Gene studied [ID]
            mustSupport: true
            array: true
            index: 12
            elements:
              code:
                mustSupport: true
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 48018-6, system: 'http://loinc.org'}
                index: 13
              value:
                mustSupport: true
                choices: [valueCodeableConcept]
                index: 15
              valueCodeableConcept: {type: CodeableConcept, mustSupport: true, choiceOf: value, index: 16}
        dnaRegionDescription:
          match:
            code:
              coding:
              - {code: 81293-3, system: 'http://loinc.org'}
          schema:
            short: Description of ranges of DNA sequences examined
            mustSupport: true
            array: true
            index: 17
            elements:
              code:
                mustSupport: true
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 81293-3, system: 'http://loinc.org'}
                index: 18
              value:
                mustSupport: true
                choices: [valueString]
                index: 20
              valueString: {type: string, mustSupport: true, choiceOf: value, index: 21}
        dnaRangesExamined:
          match:
            code:
              coding:
              - {code: 51959-5, system: 'http://loinc.org'}
          schema:
            short: Range(s) of DNA sequence examined
            mustSupport: true
            array: true
            index: 22
            elements:
              code:
                mustSupport: true
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 51959-5, system: 'http://loinc.org'}
                index: 23
              value:
                mustSupport: true
                choices: [valueRange]
                index: 25
              valueRange: {type: Range, mustSupport: true, choiceOf: value, index: 26}
        genomicRegionCoordinateSystem:
          match:
            code:
              coding:
              - {code: 92822-6, system: 'http://loinc.org'}
          schema:
            short: Genomic coordinate system [Type].
            mustSupport: true
            index: 27
            elements:
              code:
                mustSupport: true
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 92822-6, system: 'http://loinc.org'}
                index: 28
              value:
                mustSupport: true
                choices: [valueCodeableConcept]
                index: 30
              valueCodeableConcept: {type: CodeableConcept, mustSupport: true, choiceOf: value, index: 31}
        genomicReferenceSequenceId:
          match:
            code:
              coding:
              - {code: 48013-7, system: 'http://loinc.org'}
          schema:
            short: Genomic reference sequence [ID]
            mustSupport: true
            index: 32
            elements:
              code:
                mustSupport: true
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 48013-7, system: 'http://loinc.org'}
                index: 33
              value:
                mustSupport: true
                choices: []
                index: 35
package_version: 2.1.0
class: profile
kind: resource
url: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-region-studied
base: http://hl7.org/fhir/us/core/StructureDefinition/us-core-observation-lab
version: 2.1.0