{
  "description": "Copy Number Variant (CNV)",
  "_filename": "StructureDefinition-mii-pr-mtb-copy-number-variant.json",
  "package_name": "de.medizininformatikinitiative.kerndatensatz.mtb",
  "date": null,
  "derivation": "constraint",
  "publisher": "Medizininformatik Initiative",
  "fhirVersion": "4.0.1",
  "name": "MII_PR_MTB_Copy_Number_Variant",
  "abstract": false,
  "type": "Observation",
  "experimental": null,
  "resourceType": "StructureDefinition",
  "title": "MII PR MTB Copy Number Variant",
  "package_version": "2025.0.0-ballot",
  "status": "draft",
  "id": "6a6b4274-b0ea-49b4-b8da-37902f30fe14",
  "kind": "resource",
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-copy-number-variant",
  "version": "2024.0.0-ballot",
  "differential": {
    "element": [ {
      "id": "Observation.meta",
      "path": "Observation.meta",
      "mustSupport": true
    }, {
      "id": "Observation.meta.profile",
      "path": "Observation.meta.profile",
      "mustSupport": true
    }, {
      "id": "Observation.identifier",
      "path": "Observation.identifier",
      "short": "VariantenId im Kontext des NGS-Befundes",
      "definition": "Eindeutige ID der Variante im Kontext des NGS-Befundes.",
      "mustSupport": true
    }, {
      "id": "Observation.focus",
      "path": "Observation.focus",
      "type": [ {
        "code": "Reference",
        "targetProfile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/StructureDefinition/mii-pr-onko-diagnose-primaertumor", "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-diagnose-primaertumor" ]
      } ],
      "mustSupport": true
    }, {
      "id": "Observation.component",
      "path": "Observation.component",
      "slicing": {
        "rules": "open",
        "ordered": false,
        "description": "Slicing der Copy Number Variation (CNV) Komponenten",
        "discriminator": [ {
          "path": "code",
          "type": "pattern"
        } ]
      }
    }, {
      "id": "Observation.component:gene-studied",
      "path": "Observation.component",
      "short": "Reported affected genes",
      "sliceName": "gene-studied",
      "definition": "Reported affected genes"
    }, {
      "id": "Observation.component:gene-studied.code",
      "path": "Observation.component.code",
      "mustSupport": true
    }, {
      "id": "Observation.component:gene-studied.value[x]",
      "path": "Observation.component.value[x]",
      "mustSupport": true
    }, {
      "id": "Observation.component:exact-start-end",
      "path": "Observation.component",
      "short": "Positionsbereich",
      "sliceName": "exact-start-end",
      "definition": "Positionsbereich der genetischen Variante."
    }, {
      "id": "Observation.component:exact-start-end.code",
      "path": "Observation.component.code",
      "mustSupport": true
    }, {
      "id": "Observation.component:exact-start-end.value[x]",
      "path": "Observation.component.value[x]",
      "mustSupport": true
    }, {
      "id": "Observation.component:chromosome-identifier",
      "path": "Observation.component",
      "sliceName": "chromosome-identifier",
      "definition": "Chromosome auf dem sich die Variante befindet (chr1 - chr22, chrX, chrY)."
    }, {
      "id": "Observation.component:copy-number",
      "path": "Observation.component",
      "short": "Total Copy Number",
      "sliceName": "copy-number",
      "definition": "Total Copy Number"
    }, {
      "id": "Observation.component:copy-number.code",
      "path": "Observation.component.code",
      "mustSupport": true
    }, {
      "id": "Observation.component:copy-number.value[x]",
      "path": "Observation.component.value[x]",
      "mustSupport": true
    }, {
      "id": "Observation.component:relative-copy-number",
      "max": "*",
      "min": 0,
      "path": "Observation.component",
      "short": "Relative Copy Number",
      "sliceName": "relative-copy-number",
      "definition": "Relative Copy Number",
      "mustSupport": true
    }, {
      "id": "Observation.component:relative-copy-number.code",
      "path": "Observation.component.code",
      "mustSupport": true,
      "patternCodeableConcept": {
        "coding": [ {
          "code": "relative-copy-number",
          "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"
        } ]
      }
    }, {
      "id": "Observation.component:relative-copy-number.value[x]",
      "path": "Observation.component.value[x]",
      "slicing": {
        "rules": "open",
        "ordered": false,
        "discriminator": [ {
          "path": "$this",
          "type": "type"
        } ]
      }
    }, {
      "id": "Observation.component:relative-copy-number.value[x]:valueQuantity",
      "max": "1",
      "min": 0,
      "path": "Observation.component.value[x]",
      "type": [ {
        "code": "Quantity"
      } ],
      "sliceName": "valueQuantity",
      "mustSupport": true
    }, {
      "id": "Observation.component:cna",
      "max": "*",
      "min": 0,
      "path": "Observation.component",
      "short": "CNA",
      "sliceName": "cna",
      "definition": "Copy Number Allel A",
      "mustSupport": true
    }, {
      "id": "Observation.component:cna.code",
      "path": "Observation.component.code",
      "mustSupport": true,
      "patternCodeableConcept": {
        "coding": [ {
          "code": "copy-number-allele-a",
          "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"
        } ]
      }
    }, {
      "id": "Observation.component:cna.value[x]",
      "path": "Observation.component.value[x]",
      "slicing": {
        "rules": "open",
        "ordered": false,
        "discriminator": [ {
          "path": "$this",
          "type": "type"
        } ]
      }
    }, {
      "id": "Observation.component:cna.value[x]:valueQuantity",
      "max": "1",
      "min": 0,
      "path": "Observation.component.value[x]",
      "type": [ {
        "code": "Quantity"
      } ],
      "sliceName": "valueQuantity",
      "mustSupport": true
    }, {
      "id": "Observation.component:cnb",
      "max": "*",
      "min": 0,
      "path": "Observation.component",
      "short": "CNB",
      "sliceName": "cnb",
      "definition": "Copy Number Allel B",
      "mustSupport": true
    }, {
      "id": "Observation.component:cnb.code",
      "path": "Observation.component.code",
      "mustSupport": true,
      "patternCodeableConcept": {
        "coding": [ {
          "code": "copy-number-allele-b",
          "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"
        } ]
      }
    }, {
      "id": "Observation.component:cnb.value[x]",
      "path": "Observation.component.value[x]",
      "slicing": {
        "rules": "open",
        "ordered": false,
        "discriminator": [ {
          "path": "$this",
          "type": "type"
        } ]
      }
    }, {
      "id": "Observation.component:cnb.value[x]:valueQuantity",
      "max": "1",
      "min": 0,
      "path": "Observation.component.value[x]",
      "type": [ {
        "code": "Quantity"
      } ],
      "sliceName": "valueQuantity",
      "mustSupport": true
    }, {
      "id": "Observation.component:reported-focality",
      "max": "*",
      "min": 0,
      "path": "Observation.component",
      "short": "Reported focality",
      "sliceName": "reported-focality",
      "definition": "Reported focality",
      "mustSupport": true
    }, {
      "id": "Observation.component:reported-focality.code",
      "path": "Observation.component.code",
      "mustSupport": true,
      "patternCodeableConcept": {
        "coding": [ {
          "code": "reported-focality",
          "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"
        } ]
      }
    }, {
      "id": "Observation.component:reported-focality.value[x]",
      "path": "Observation.component.value[x]",
      "slicing": {
        "rules": "open",
        "ordered": false,
        "discriminator": [ {
          "path": "$this",
          "type": "type"
        } ]
      }
    }, {
      "id": "Observation.component:reported-focality.value[x]:valueQuantity",
      "max": "1",
      "min": 0,
      "path": "Observation.component.value[x]",
      "type": [ {
        "code": "Quantity"
      } ],
      "sliceName": "valueQuantity",
      "mustSupport": true
    }, {
      "id": "Observation.component:cnv-type",
      "max": "*",
      "min": 0,
      "path": "Observation.component",
      "short": "CNV Type",
      "sliceName": "cnv-type",
      "definition": "Copy Number Variant Type",
      "mustSupport": true
    }, {
      "id": "Observation.component:cnv-type.code",
      "path": "Observation.component.code",
      "patternCodeableConcept": {
        "coding": [ {
          "code": "type",
          "system": "http://bwhc.de/mtb/genetics-copy-number-variant"
        } ]
      }
    }, {
      "id": "Observation.component:cnv-type.value[x]",
      "path": "Observation.component.value[x]",
      "slicing": {
        "rules": "open",
        "ordered": false,
        "discriminator": [ {
          "path": "$this",
          "type": "type"
        } ]
      }
    }, {
      "id": "Observation.component:cnv-type.value[x]:valueCodeableConcept",
      "max": "1",
      "min": 0,
      "path": "Observation.component.value[x]",
      "type": [ {
        "code": "CodeableConcept"
      } ],
      "sliceName": "valueCodeableConcept",
      "mustSupport": true
    }, {
      "id": "Observation.component:copy-number-neutral-loh",
      "max": "*",
      "min": 0,
      "path": "Observation.component",
      "short": "Copy number neutral LoH",
      "sliceName": "copy-number-neutral-loh",
      "definition": "Copy number neutral Loss of heterozygosity",
      "mustSupport": true
    }, {
      "id": "Observation.component:copy-number-neutral-loh.code",
      "path": "Observation.component.code",
      "mustSupport": true,
      "patternCodeableConcept": {
        "coding": [ {
          "code": "copy-number-neutral-loh",
          "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"
        } ]
      }
    }, {
      "id": "Observation.component:copy-number-neutral-loh.value[x]",
      "path": "Observation.component.value[x]",
      "slicing": {
        "rules": "open",
        "ordered": false,
        "discriminator": [ {
          "path": "$this",
          "type": "type"
        } ]
      }
    }, {
      "id": "Observation.component:copy-number-neutral-loh.value[x]:valueCodeableConcept",
      "max": "1",
      "min": 0,
      "path": "Observation.component.value[x]",
      "type": [ {
        "code": "CodeableConcept"
      } ],
      "sliceName": "valueCodeableConcept",
      "mustSupport": true
    } ]
  },
  "contact": [ {
    "telecom": [ {
      "value": "https://www.medizininformatik-initiative.de",
      "system": "url"
    } ]
  } ],
  "baseDefinition": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante"
}