description: Copy Number Variant (CNV)
package_name: 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
    _short:
      extension:
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: de-DE}
        - {url: content, valueString: VariantenId im Kontext des NGS-Befundes}
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: en}
        - {url: content, valueString: Variant ID in the context of the NGS report}
    _definition:
      extension:
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: de-DE}
        - {url: content, valueString: Eindeutige ID der Variante im Kontext des NGS-Befundes.}
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: en}
        - {url: content, valueString: Unique ID of the variant in the context of the NGS report.}
    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:
    short: Reported affected genes
    _short:
      extension:
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: de-DE}
        - {url: content, valueString: Berichtete betroffene Gene}
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: en}
        - {url: content, valueString: Reported affected genes}
    _definition:
      extension:
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: de-DE}
        - {url: content, valueString: Berichtete betroffene Gene}
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: en}
        - {url: content, valueString: Reported affected genes}
    index: 4
    slicing:
      slices:
        copy-number-neutral-loh:
          match: {}
          schema:
            short: Copy number neutral LoH
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Kopienzahlneutraler Verlust der Heterozygotie}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Copy number neutral Loss of heterozygosity}
            mustSupport: true
            _short:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Kopienzahlneutraler LoH}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Copy number neutral LoH}
            array: true
            index: 55
            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'}
                index: 56
              value:
                choices: []
                index: 58
                slicing:
                  rules: open
                  ordered: false
                  discriminator:
                  - {path: $this, type: type}
                  min: null
                  slices:
                    valueCodeableConcept:
                      match: {}
                      schema:
                        mustSupport: true
                        choices: [valueCodeableConcept]
                        index: 60
                      min: 0
                      max: 1
              valueCodeableConcept:
                type: CodeableConcept
                mustSupport: true
                choiceOf: value
                index: 61
                slicing:
                  slices:
                    valueCodeableConcept:
                      match: {}
                      schema: {type: CodeableConcept, mustSupport: true, choiceOf: value, index: 61}
                      min: 0
                      max: 1
        relative-copy-number:
          match: {}
          schema:
            short: Relative Copy Number
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Relative Kopienzahl}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Relative Copy Number}
            mustSupport: true
            _short:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Relative Kopienzahl}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Relative Copy Number}
            array: true
            index: 20
            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'}
                index: 21
              value:
                choices: []
                index: 23
                slicing:
                  rules: open
                  ordered: false
                  discriminator:
                  - {path: $this, type: type}
                  min: null
                  slices:
                    valueQuantity:
                      match: {}
                      schema:
                        mustSupport: true
                        choices: [valueQuantity]
                        index: 25
                      min: 0
                      max: 1
              valueQuantity:
                type: Quantity
                mustSupport: true
                choiceOf: value
                index: 26
                slicing:
                  slices:
                    valueQuantity:
                      match: {}
                      schema: {type: Quantity, mustSupport: true, choiceOf: value, index: 26}
                      min: 0
                      max: 1
        copy-number:
          match: {}
          schema:
            short: Total Copy Number
            _short:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Gesamtkopienzahl}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Total Copy Number}
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Gesamtkopienzahl}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Total Copy Number}
            index: 13
            elements:
              code: {mustSupport: true, index: 14}
              value:
                choices: []
                index: 16
                slicing:
                  rules: open
                  ordered: false
                  discriminator:
                  - {path: $this, type: type}
                  min: null
                  slices:
                    valueQuantity:
                      match: {}
                      schema:
                        mustSupport: true
                        choices: [valueQuantity]
                        index: 18
                      min: 0
                      max: 1
              valueQuantity:
                type: Quantity
                mustSupport: true
                choiceOf: value
                index: 19
                slicing:
                  slices:
                    valueQuantity:
                      match: {}
                      schema: {type: Quantity, mustSupport: true, choiceOf: value, index: 19}
                      min: 0
                      max: 1
        reported-focality:
          match: {}
          schema:
            short: Reported focality
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Berichtete Fokalitaet}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Reported focality}
            mustSupport: true
            _short:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Berichtete Fokalitaet}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Reported focality}
            array: true
            index: 41
            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'}
                index: 42
              value:
                choices: []
                index: 44
                slicing:
                  rules: open
                  ordered: false
                  discriminator:
                  - {path: $this, type: type}
                  min: null
                  slices:
                    valueQuantity:
                      match: {}
                      schema:
                        mustSupport: true
                        choices: [valueQuantity]
                        index: 46
                      min: 0
                      max: 1
              valueQuantity:
                type: Quantity
                mustSupport: true
                choiceOf: value
                index: 47
                slicing:
                  slices:
                    valueQuantity:
                      match: {}
                      schema: {type: Quantity, mustSupport: true, choiceOf: value, index: 47}
                      min: 0
                      max: 1
        exact-start-end:
          match: {}
          schema:
            short: Positionsbereich
            _short:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Positionsbereich}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Position range}
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Positionsbereich der genetischen Variante.}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Position range of the genetic variant.}
            index: 9
            elements:
              code: {mustSupport: true, index: 10}
              value:
                mustSupport: true
                choices: []
                index: 12
        chromosome-identifier:
          match: {}
          schema:
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Chromosom auf dem sich die Variante befindet - chr1 - chr22 - chrX - chrY}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Chromosome on which the variant is located - chr1 - chr22 - chrX - chrY}
            index: 8
        cnb:
          match: {}
          schema:
            short: CNB
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Kopienzahl Allel B}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Copy Number Allele B}
            mustSupport: true
            _short:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: CNB}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: CNB}
            array: true
            index: 34
            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'}
                index: 35
              value:
                choices: []
                index: 37
                slicing:
                  rules: open
                  ordered: false
                  discriminator:
                  - {path: $this, type: type}
                  min: null
                  slices:
                    valueQuantity:
                      match: {}
                      schema:
                        mustSupport: true
                        choices: [valueQuantity]
                        index: 39
                      min: 0
                      max: 1
              valueQuantity:
                type: Quantity
                mustSupport: true
                choiceOf: value
                index: 40
                slicing:
                  slices:
                    valueQuantity:
                      match: {}
                      schema: {type: Quantity, mustSupport: true, choiceOf: value, index: 40}
                      min: 0
                      max: 1
        cna:
          match: {}
          schema:
            short: CNA
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Kopienzahl Allel A}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Copy Number Allele A}
            mustSupport: true
            _short:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: CNA}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: CNA}
            array: true
            index: 27
            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'}
                index: 28
              value:
                choices: []
                index: 30
                slicing:
                  rules: open
                  ordered: false
                  discriminator:
                  - {path: $this, type: type}
                  min: null
                  slices:
                    valueQuantity:
                      match: {}
                      schema:
                        mustSupport: true
                        choices: [valueQuantity]
                        index: 32
                      min: 0
                      max: 1
              valueQuantity:
                type: Quantity
                mustSupport: true
                choiceOf: value
                index: 33
                slicing:
                  slices:
                    valueQuantity:
                      match: {}
                      schema: {type: Quantity, mustSupport: true, choiceOf: value, index: 33}
                      min: 0
                      max: 1
        cnv-type:
          match: {}
          schema:
            short: CNV Type
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Kopienzahlvarianten-Typ}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Copy Number Variant Type}
            mustSupport: true
            _short:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: CNV-Typ}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: CNV Type}
            array: true
            index: 48
            elements:
              code:
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: type, system: 'http://bwhc.de/mtb/genetics-copy-number-variant'}
                index: 49
              value:
                choices: []
                index: 51
                slicing:
                  rules: open
                  ordered: false
                  discriminator:
                  - {path: $this, type: type}
                  min: null
                  slices:
                    valueCodeableConcept:
                      match: {}
                      schema:
                        mustSupport: true
                        choices: [valueCodeableConcept]
                        index: 53
                      min: 0
                      max: 1
              valueCodeableConcept:
                type: CodeableConcept
                mustSupport: true
                choiceOf: value
                index: 54
                slicing:
                  slices:
                    valueCodeableConcept:
                      match: {}
                      schema: {type: CodeableConcept, mustSupport: true, choiceOf: value, index: 54}
                      min: 0
                      max: 1
        gene-studied:
          match: {}
          schema:
            short: Reported affected genes
            _short:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Berichtete betroffene Gene}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Reported affected genes}
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Berichtete betroffene Gene}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Reported affected genes}
            index: 4
            elements:
              code: {mustSupport: true, index: 5}
              value:
                mustSupport: true
                choices: []
                index: 7
package_version: 2026.0.1
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: 2026.0.1