description: Copy Number Variant (CNV)
package_name: rs/de.medizininformatikinitiative.kerndatensatz.mtb
derivation: constraint
name: MII_PR_MTB_Copy_Number_Variant
type: Observation
elements:
  meta:
    mustSupport: true
    index: 0
    elements:
      profile: {mustSupport: true, index: 1}
  identifier: {short: VariantenId im Kontext des NGS-Befundes, mustSupport: true, index: 2}
  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: 3
  component:
    index: 4
    slicing:
      rules: open
      ordered: false
      description: Slicing der Copy Number Variation (CNV) Komponenten
      discriminator:
      - {path: code, type: pattern}
      min: null
      slices:
        copy-number-neutral-loh:
          match:
            code:
              coding:
              - {code: copy-number-neutral-loh, system: 'https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker'}
          schema:
            short: Copy number neutral LoH
            mustSupport: true
            array: true
            index: 53
            elements:
              code:
                mustSupport: true
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: copy-number-neutral-loh, system: 'https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker'}
                type: CodeableConcept
                index: 54
              value:
                choices: []
                index: 56
                slicing:
                  rules: open
                  ordered: false
                  discriminator:
                  - {path: $this, type: type}
                  min: null
                  slices:
                    valueCodeableConcept:
                      match: {}
                      schema:
                        mustSupport: true
                        choices: [valueCodeableConcept]
                        index: 58
                      min: 0
                      max: 1
              valueCodeableConcept:
                type: CodeableConcept
                mustSupport: true
                choiceOf: value
                index: 59
                slicing:
                  slices:
                    valueCodeableConcept:
                      match: {}
                      schema: {type: CodeableConcept, mustSupport: true, choiceOf: value, index: 59}
                      min: 0
                      max: 1
        relative-copy-number:
          match:
            code:
              coding:
              - {code: relative-copy-number, system: 'https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker'}
          schema:
            short: Relative Copy Number
            mustSupport: true
            array: true
            index: 18
            elements:
              code:
                mustSupport: true
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: relative-copy-number, system: 'https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker'}
                type: CodeableConcept
                index: 19
              value:
                choices: []
                index: 21
                slicing:
                  rules: open
                  ordered: false
                  discriminator:
                  - {path: $this, type: type}
                  min: null
                  slices:
                    valueQuantity:
                      match: {}
                      schema:
                        mustSupport: true
                        choices: [valueQuantity]
                        index: 23
                      min: 0
                      max: 1
              valueQuantity:
                type: Quantity
                mustSupport: true
                choiceOf: value
                index: 24
                slicing:
                  slices:
                    valueQuantity:
                      match: {}
                      schema: {type: Quantity, mustSupport: true, choiceOf: value, index: 24}
                      min: 0
                      max: 1
        copy-number:
          match: {code: null}
          schema:
            short: Total Copy Number
            index: 14
            elements:
              code: {mustSupport: true, index: 15}
              value:
                mustSupport: true
                choices: []
                index: 17
        reported-focality:
          match:
            code:
              coding:
              - {code: reported-focality, system: 'https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker'}
          schema:
            short: Reported focality
            mustSupport: true
            array: true
            index: 39
            elements:
              code:
                mustSupport: true
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: reported-focality, system: 'https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker'}
                type: CodeableConcept
                index: 40
              value:
                choices: []
                index: 42
                slicing:
                  rules: open
                  ordered: false
                  discriminator:
                  - {path: $this, type: type}
                  min: null
                  slices:
                    valueQuantity:
                      match: {}
                      schema:
                        mustSupport: true
                        choices: [valueQuantity]
                        index: 44
                      min: 0
                      max: 1
              valueQuantity:
                type: Quantity
                mustSupport: true
                choiceOf: value
                index: 45
                slicing:
                  slices:
                    valueQuantity:
                      match: {}
                      schema: {type: Quantity, mustSupport: true, choiceOf: value, index: 45}
                      min: 0
                      max: 1
        exact-start-end:
          match: {code: null}
          schema:
            short: Positionsbereich
            index: 9
            elements:
              code: {mustSupport: true, index: 10}
              value:
                mustSupport: true
                choices: []
                index: 12
        chromosome-identifier:
          match: {code: null}
          schema: {index: 13}
        cnb:
          match:
            code:
              coding:
              - {code: copy-number-allele-b, system: 'https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker'}
          schema:
            short: CNB
            mustSupport: true
            array: true
            index: 32
            elements:
              code:
                mustSupport: true
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: copy-number-allele-b, system: 'https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker'}
                type: CodeableConcept
                index: 33
              value:
                choices: []
                index: 35
                slicing:
                  rules: open
                  ordered: false
                  discriminator:
                  - {path: $this, type: type}
                  min: null
                  slices:
                    valueQuantity:
                      match: {}
                      schema:
                        mustSupport: true
                        choices: [valueQuantity]
                        index: 37
                      min: 0
                      max: 1
              valueQuantity:
                type: Quantity
                mustSupport: true
                choiceOf: value
                index: 38
                slicing:
                  slices:
                    valueQuantity:
                      match: {}
                      schema: {type: Quantity, mustSupport: true, choiceOf: value, index: 38}
                      min: 0
                      max: 1
        cna:
          match:
            code:
              coding:
              - {code: copy-number-allele-a, system: 'https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker'}
          schema:
            short: CNA
            mustSupport: true
            array: true
            index: 25
            elements:
              code:
                mustSupport: true
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: copy-number-allele-a, system: 'https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker'}
                type: CodeableConcept
                index: 26
              value:
                choices: []
                index: 28
                slicing:
                  rules: open
                  ordered: false
                  discriminator:
                  - {path: $this, type: type}
                  min: null
                  slices:
                    valueQuantity:
                      match: {}
                      schema:
                        mustSupport: true
                        choices: [valueQuantity]
                        index: 30
                      min: 0
                      max: 1
              valueQuantity:
                type: Quantity
                mustSupport: true
                choiceOf: value
                index: 31
                slicing:
                  slices:
                    valueQuantity:
                      match: {}
                      schema: {type: Quantity, mustSupport: true, choiceOf: value, index: 31}
                      min: 0
                      max: 1
        cnv-type:
          match:
            code:
              coding:
              - {code: type, system: 'http://bwhc.de/mtb/genetics-copy-number-variant'}
          schema:
            short: CNV Type
            mustSupport: true
            array: true
            index: 46
            elements:
              code:
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: type, system: 'http://bwhc.de/mtb/genetics-copy-number-variant'}
                type: CodeableConcept
                index: 47
              value:
                choices: []
                index: 49
                slicing:
                  rules: open
                  ordered: false
                  discriminator:
                  - {path: $this, type: type}
                  min: null
                  slices:
                    valueCodeableConcept:
                      match: {}
                      schema:
                        mustSupport: true
                        choices: [valueCodeableConcept]
                        index: 51
                      min: 0
                      max: 1
              valueCodeableConcept:
                type: CodeableConcept
                mustSupport: true
                choiceOf: value
                index: 52
                slicing:
                  slices:
                    valueCodeableConcept:
                      match: {}
                      schema: {type: CodeableConcept, mustSupport: true, choiceOf: value, index: 52}
                      min: 0
                      max: 1
        gene-studied:
          match: {code: null}
          schema:
            short: Reported affected genes
            index: 5
            elements:
              code: {mustSupport: true, index: 6}
              value:
                mustSupport: true
                choices: []
                index: 8
package_version: 2025.0.0-ballot
class: profile
kind: resource
url: https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-copy-number-variant
base: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante
version: 2024.0.0-ballot