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:
  identifier: {mustSupport: true, index: 0}
  code:
    pattern:
      type: CodeableConcept
      value:
        coding:
        - {code: 107286-7, system: 'http://loinc.org'}
    index: 1
  subject: {index: 2}
  value:
    short: HRD-Score
    _short:
      extension:
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: de-DE}
        - {url: content, valueString: HRD-Score}
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: en}
        - {url: content, valueString: HRD Score}
    _definition:
      extension:
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: de-DE}
        - {url: content, valueString: HRD-Score als Summe der LOH - TAI und LST-Werte}
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: en}
        - {url: content, valueString: HRD Score as sum of LOH - TAI and LST values}
    mustSupport: true
    choices: [valueInteger]
    index: 4
  valueInteger:
    short: HRD-Score
    _definition:
      extension:
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: de-DE}
        - {url: content, valueString: HRD-Score als Summe der LOH - TAI und LST-Werte}
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: en}
        - {url: content, valueString: HRD Score as sum of LOH - TAI and LST values}
    type: integer
    mustSupport: true
    _short:
      extension:
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: de-DE}
        - {url: content, valueString: HRD-Score}
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: en}
        - {url: content, valueString: HRD Score}
    choiceOf: value
    index: 5
  interpretation:
    binding: {strength: required, valueSet: 'http://hl7.org/fhir/uv/genomics-reporting/ValueSet/high-low-codes-vs'}
    mustSupport: true
    index: 6
  specimen: {mustSupport: true, index: 7}
  component:
    index: 8
    slicing:
      rules: closed
      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
            _short:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Verlust der Heterozygotie}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Loss of heterozygosity}
            mustSupport: true
            index: 9
            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}
                index: 10
              value:
                mustSupport: true
                choices: [valueInteger]
                index: 12
              valueInteger: {type: integer, mustSupport: true, choiceOf: value, index: 13}
        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
            _short:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Telomere allelische Imbalance}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Telomeric allelic imbalance}
            mustSupport: true
            index: 14
            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}
                index: 15
              value:
                mustSupport: true
                choices: [valueInteger]
                index: 17
              valueInteger: {type: integer, mustSupport: true, choiceOf: value, index: 18}
        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
            _short:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Grossflaechige Zustandsuebergaenge}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Large-scale state transitions}
            mustSupport: true
            index: 19
            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}
                index: 20
              value:
                mustSupport: true
                choices: [valueInteger]
                index: 22
              valueInteger: {type: integer, mustSupport: true, choiceOf: value, index: 23}
package_version: 2026.0.1
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: 2026.0.1
required: [subject]