description: Der HRD-Score, welcher den Grad der homologen Rekombinationsdefizienz bei Zellen beschreibt.
package_name: de.medizininformatikinitiative.kerndatensatz.mtb
derivation: constraint
name: MII_PR_MTB_HRD_Score
type: Observation
elements:
  category: {mustSupport: true, index: 1}
  interpretation:
    binding: {strength: required, valueSet: 'http://hl7.org/fhir/uv/genomics-reporting/ValueSet/high-low-codes-vs'}
    mustSupport: true
    index: 8
  encounter: {mustSupport: true, index: 4}
  specimen: {mustSupport: true, index: 9}
  value:
    short: HRD-Score
    mustSupport: true
    choices: [valueInteger]
    index: 6
  component:
    index: 10
    slicing:
      rules: closed
      ordered: false
      description: Elements of the HRD Score
      discriminator:
      - {path: code, type: value}
      min: null
      slices:
        LOH:
          match:
            code:
              coding:
              - {code: C18016, system: 'https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem-ncit.html', display: Loss of Heterozygosity}
          schema:
            short: Loss of heterozygosity
            mustSupport: true
            index: 11
            elements:
              code:
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: C18016, system: 'https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem-ncit.html', display: Loss of Heterozygosity}
                type: CodeableConcept
                index: 12
              value:
                mustSupport: true
                choices: [valueInteger]
                index: 14
              valueInteger: {type: integer, mustSupport: true, choiceOf: value, index: 15}
        TAI:
          match:
            code:
              coding:
              - {code: C129774, system: 'https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem-ncit.html', display: Telomeric Allelic Imbalance Region}
          schema:
            short: Telomeric allelic imbalance
            mustSupport: true
            index: 16
            elements:
              code:
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: C129774, system: 'https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem-ncit.html', display: Telomeric Allelic Imbalance Region}
                type: CodeableConcept
                index: 17
              value:
                mustSupport: true
                choices: [valueInteger]
                index: 19
              valueInteger: {type: integer, mustSupport: true, choiceOf: value, index: 20}
        LST:
          match:
            code:
              coding:
              - {code: C120466, system: 'https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem-ncit.html', display: Large-Scale State Transition}
          schema:
            short: Large-scale state transitions
            mustSupport: true
            index: 21
            elements:
              code:
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: C120466, system: 'https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem-ncit.html', display: Large-Scale State Transition}
                type: CodeableConcept
                index: 22
              value:
                mustSupport: true
                choices: [valueInteger]
                index: 24
              valueInteger: {type: integer, mustSupport: true, choiceOf: value, index: 25}
  code:
    pattern:
      type: CodeableConcept
      value:
        coding:
        - {code: 107286-7, system: 'http://loinc.org'}
    type: CodeableConcept
    index: 2
  identifier: {mustSupport: true, index: 0}
  valueInteger: {type: integer, short: HRD-Score, mustSupport: true, choiceOf: value, index: 7}
  subject:
    type: Reference
    mustSupport: true
    refers: ['http://hl7.org/fhir/StructureDefinition/Group', 'http://hl7.org/fhir/StructureDefinition/Patient']
    index: 3
package_version: 2025.0.0-ballot
class: profile
kind: resource
url: https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-hrd-score
base: https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-molekularer-biomarker
version: 2024.0.0-ballot
required: [subject]