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}
  component:
    short: Reported affected genes
    index: 1
    slicing:
      slices:
        copy-number-neutral-loh:
          match: {}
          schema:
            short: Copy number neutral LoH
            mustSupport: true
            array: true
            index: 49
            elements:
              code: {mustSupport: true, index: 50}
              value:
                choices: []
                index: 52
                slicing:
                  rules: open
                  ordered: false
                  discriminator:
                  - {path: $this, type: type}
                  min: null
                  slices:
                    valueCodeableConcept:
                      match: {}
                      schema:
                        mustSupport: true
                        choices: [valueCodeableConcept]
                        index: 54
                      min: 0
                      max: 1
              valueCodeableConcept:
                type: CodeableConcept
                mustSupport: true
                choiceOf: value
                index: 55
                slicing:
                  slices:
                    valueCodeableConcept:
                      match: {}
                      schema: {type: CodeableConcept, mustSupport: true, choiceOf: value, index: 55}
                      min: 0
                      max: 1
        relative-copy-number:
          match: {}
          schema:
            short: Relative Copy Number
            mustSupport: true
            array: true
            index: 14
            elements:
              code: {mustSupport: true, index: 15}
              value:
                choices: []
                index: 17
                slicing:
                  rules: open
                  ordered: false
                  discriminator:
                  - {path: $this, type: type}
                  min: null
                  slices:
                    valueQuantity:
                      match: {}
                      schema:
                        mustSupport: true
                        choices: [valueQuantity]
                        index: 19
                      min: 0
                      max: 1
              valueQuantity:
                type: Quantity
                mustSupport: true
                choiceOf: value
                index: 20
                slicing:
                  slices:
                    valueQuantity:
                      match: {}
                      schema: {type: Quantity, mustSupport: true, choiceOf: value, index: 20}
                      min: 0
                      max: 1
        copy-number:
          match: {}
          schema:
            short: Total Copy Number
            index: 10
            elements:
              code: {mustSupport: true, index: 11}
              value:
                mustSupport: true
                choices: []
                index: 13
        reported-focality:
          match: {}
          schema:
            short: Reported focality
            mustSupport: true
            array: true
            index: 35
            elements:
              code: {mustSupport: true, index: 36}
              value:
                choices: []
                index: 38
                slicing:
                  rules: open
                  ordered: false
                  discriminator:
                  - {path: $this, type: type}
                  min: null
                  slices:
                    valueQuantity:
                      match: {}
                      schema:
                        mustSupport: true
                        choices: [valueQuantity]
                        index: 40
                      min: 0
                      max: 1
              valueQuantity:
                type: Quantity
                mustSupport: true
                choiceOf: value
                index: 41
                slicing:
                  slices:
                    valueQuantity:
                      match: {}
                      schema: {type: Quantity, mustSupport: true, choiceOf: value, index: 41}
                      min: 0
                      max: 1
        exact-start-end:
          match: {}
          schema:
            short: Positionsbereich
            index: 5
            elements:
              code: {mustSupport: true, index: 6}
              value:
                mustSupport: true
                choices: []
                index: 8
        chromosome-identifier:
          match: {}
          schema: {index: 9}
        cnb:
          match: {}
          schema:
            short: CNB
            mustSupport: true
            array: true
            index: 28
            elements:
              code: {mustSupport: true, index: 29}
              value:
                choices: []
                index: 31
                slicing:
                  rules: open
                  ordered: false
                  discriminator:
                  - {path: $this, type: type}
                  min: null
                  slices:
                    valueQuantity:
                      match: {}
                      schema:
                        mustSupport: true
                        choices: [valueQuantity]
                        index: 33
                      min: 0
                      max: 1
              valueQuantity:
                type: Quantity
                mustSupport: true
                choiceOf: value
                index: 34
                slicing:
                  slices:
                    valueQuantity:
                      match: {}
                      schema: {type: Quantity, mustSupport: true, choiceOf: value, index: 34}
                      min: 0
                      max: 1
        cna:
          match: {}
          schema:
            short: CNA
            mustSupport: true
            array: true
            index: 21
            elements:
              code: {mustSupport: true, index: 22}
              value:
                choices: []
                index: 24
                slicing:
                  rules: open
                  ordered: false
                  discriminator:
                  - {path: $this, type: type}
                  min: null
                  slices:
                    valueQuantity:
                      match: {}
                      schema:
                        mustSupport: true
                        choices: [valueQuantity]
                        index: 26
                      min: 0
                      max: 1
              valueQuantity:
                type: Quantity
                mustSupport: true
                choiceOf: value
                index: 27
                slicing:
                  slices:
                    valueQuantity:
                      match: {}
                      schema: {type: Quantity, mustSupport: true, choiceOf: value, index: 27}
                      min: 0
                      max: 1
        cnv-type:
          match: {}
          schema:
            short: CNV Type
            mustSupport: true
            array: true
            index: 42
            elements:
              code:
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: type, system: 'http://bwhc.de/mtb/genetics-copy-number-variant'}
                index: 43
              value:
                choices: []
                index: 45
                slicing:
                  rules: open
                  ordered: false
                  discriminator:
                  - {path: $this, type: type}
                  min: null
                  slices:
                    valueCodeableConcept:
                      match: {}
                      schema:
                        mustSupport: true
                        choices: [valueCodeableConcept]
                        index: 47
                      min: 0
                      max: 1
              valueCodeableConcept:
                type: CodeableConcept
                mustSupport: true
                choiceOf: value
                index: 48
                slicing:
                  slices:
                    valueCodeableConcept:
                      match: {}
                      schema: {type: CodeableConcept, mustSupport: true, choiceOf: value, index: 48}
                      min: 0
                      max: 1
        gene-studied:
          match: {}
          schema:
            short: Reported affected genes
            index: 1
            elements:
              code: {mustSupport: true, index: 2}
              value:
                mustSupport: true
                choices: []
                index: 4
package_version: 2025.0.0-ballot-alpha.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: 2024.0.0-ballot