description: Stellt einen gefundenden Biomarker dar. Das Profil ist auf Basis von https://build.fhir.org/ig/HL7/genomics-reporting/StructureDefinition-molecular-biomarker.html nachgebaut.
package_name: rs/de.medizininformatikinitiative.kerndatensatz.mtb
derivation: constraint
name: MII_PR_MTB_Molekularer_Biomarker
type: Observation
elements:
  meta:
    mustSupport: true
    index: 0
    elements:
      profile: {mustSupport: true, index: 1}
  category:
    array: true
    min: 3
    index: 2
    slicing:
      rules: open
      ordered: false
      description: Slices for category
      discriminator:
      - {path: coding, type: value}
      min: 3
      slices:
        labCategory:
          match:
            coding: {code: laboratory, system: 'http://terminology.hl7.org/CodeSystem/observation-category'}
          schema:
            mustSupport: true
            _required: true
            index: 3
            elements:
              coding:
                pattern:
                  type: Coding
                  value: {code: laboratory, system: 'http://terminology.hl7.org/CodeSystem/observation-category'}
                type: Coding
                index: 4
            required: [coding]
        geCategory:
          match:
            coding: {code: GE, system: 'http://terminology.hl7.org/CodeSystem/v2-0074'}
          schema:
            _required: true
            index: 5
            elements:
              coding:
                pattern:
                  type: Coding
                  value: {code: GE, system: 'http://terminology.hl7.org/CodeSystem/v2-0074'}
                type: Coding
                index: 6
            required: [coding]
        mbCategory:
          match:
            coding: {code: biomarker-category, system: 'http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs'}
          schema:
            _required: true
            index: 7
            elements:
              coding:
                pattern:
                  type: Coding
                  value: {code: biomarker-category, system: 'http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs'}
                type: Coding
                index: 8
            required: [coding]
  code:
    binding: {strength: extensible, valueSet: 'https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/ValueSet/mii-vs-mtb-molekulare-biomarker'}
    index: 9
  focus:
    type: Reference
    mustSupport: true
    refers: ['https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-diagnose-primaertumor', 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/StructureDefinition/mii-pr-onko-diagnose-primaertumor']
    index: 10
  derivedFrom:
    index: 11
    slicing:
      rules: open
      ordered: false
      description: Slices for derivedFrom
      discriminator:
      - {path: resolve(), type: profile}
      min: null
      slices:
        variant:
          match: {}
          schema:
            type: Reference
            refers: ['http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant']
            array: true
            index: 12
          min: 0
        genotype:
          match: {}
          schema:
            type: Reference
            refers: ['http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype']
            array: true
            index: 13
          min: 0
        haplotype:
          match: {}
          schema:
            type: Reference
            refers: ['http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype']
            array: true
            index: 14
          min: 0
  component:
    index: 15
    slicing:
      rules: open
      ordered: false
      description: Slices for component
      discriminator:
      - {path: code, type: value}
      min: null
      slices:
        gene-studied:
          match: {code: null}
          schema:
            array: true
            index: 16
            elements:
              code:
                elements:
                  coding:
                    pattern:
                      type: Coding
                      value: {code: 48018-6, system: 'http://loinc.org'}
                    type: Coding
                    index: 17
              value:
                choices: []
                index: 19
                slicing:
                  rules: open
                  ordered: false
                  discriminator:
                  - {path: $this, type: type}
                  min: null
                  slices:
                    valueCodeableConcept:
                      match: {}
                      schema:
                        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: 21
                      min: 0
                      max: 1
              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: 22
                slicing:
                  slices:
                    valueCodeableConcept:
                      match: {}
                      schema: {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: 22}
                      min: 0
                      max: 1
        biomarker-category:
          match:
            code:
              coding:
              - {code: biomarker-category, system: 'http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs'}
          schema:
            mustSupport: true
            array: true
            index: 23
            elements:
              code:
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: biomarker-category, system: 'http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs'}
                type: CodeableConcept
                index: 24
              value:
                choices: [valueCodeableConcept]
                index: 26
              valueCodeableConcept: {type: CodeableConcept, choiceOf: value, index: 27}
package_version: 2025.0.0-ballot
class: profile
kind: resource
url: https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-molekularer-biomarker
base: http://hl7.org/fhir/StructureDefinition/Observation
version: 2024.0.0-ballot