FHIR IG Statistics: StructureDefinition/mii-pr-mtb-copy-number-variant

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{
  "resourceType": "StructureDefinition",
  "id": "mii-pr-mtb-copy-number-variant",
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-copy-number-variant",
  "version": "2024.0.0-ballot",
  "name": "MII_PR_MTB_Copy_Number_Variant",
  "title": "MII PR MTB Copy Number Variant",
  "status": "draft",
  "publisher": "Medizininformatik Initiative",
  "contact": [
    {
      "telecom": [
        {
          "system": "url",
          "value": "https://www.medizininformatik-initiative.de"
        }
      ]
    }
  ],
  "description": "Copy Number Variant (CNV)",
  "fhirVersion": "4.0.1",
  "kind": "resource",
  "abstract": false,
  "type": "Observation",
  "baseDefinition": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante",
  "derivation": "constraint",
  "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": {
          "discriminator": [
            {
              "type": "pattern",
              "path": "code"
            }
          ],
          "description": "Slicing der Copy Number Variation (CNV) Komponenten",
          "rules": "open",
          "ordered": false
        }
      },
      {
        "id": "Observation.component:gene-studied",
        "path": "Observation.component",
        "sliceName": "gene-studied",
        "short": "Reported affected genes",
        "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",
        "sliceName": "exact-start-end",
        "short": "Positionsbereich",
        "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",
        "sliceName": "copy-number",
        "short": "Total 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",
        "path": "Observation.component",
        "sliceName": "relative-copy-number",
        "short": "Relative Copy Number",
        "definition": "Relative Copy Number",
        "min": 0,
        "max": "*",
        "mustSupport": true
      },
      {
        "id": "Observation.component:relative-copy-number.code",
        "path": "Observation.component.code",
        "patternCodeableConcept": {
          "coding": [
            {
              "code": "relative-copy-number",
              "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"
            }
          ]
        },
        "mustSupport": true
      },
      {
        "id": "Observation.component:relative-copy-number.value[x]",
        "path": "Observation.component.value[x]",
        "slicing": {
          "discriminator": [
            {
              "type": "type",
              "path": "$this"
            }
          ],
          "ordered": false,
          "rules": "open"
        }
      },
      {
        "id": "Observation.component:relative-copy-number.value[x]:valueQuantity",
        "path": "Observation.component.value[x]",
        "sliceName": "valueQuantity",
        "min": 0,
        "max": "1",
        "type": [
          {
            "code": "Quantity"
          }
        ],
        "mustSupport": true
      },
      {
        "id": "Observation.component:cna",
        "path": "Observation.component",
        "sliceName": "cna",
        "short": "CNA",
        "definition": "Copy Number Allel A",
        "min": 0,
        "max": "*",
        "mustSupport": true
      },
      {
        "id": "Observation.component:cna.code",
        "path": "Observation.component.code",
        "patternCodeableConcept": {
          "coding": [
            {
              "code": "copy-number-allele-a",
              "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"
            }
          ]
        },
        "mustSupport": true
      },
      {
        "id": "Observation.component:cna.value[x]",
        "path": "Observation.component.value[x]",
        "slicing": {
          "discriminator": [
            {
              "type": "type",
              "path": "$this"
            }
          ],
          "ordered": false,
          "rules": "open"
        }
      },
      {
        "id": "Observation.component:cna.value[x]:valueQuantity",
        "path": "Observation.component.value[x]",
        "sliceName": "valueQuantity",
        "min": 0,
        "max": "1",
        "type": [
          {
            "code": "Quantity"
          }
        ],
        "mustSupport": true
      },
      {
        "id": "Observation.component:cnb",
        "path": "Observation.component",
        "sliceName": "cnb",
        "short": "CNB",
        "definition": "Copy Number Allel B",
        "min": 0,
        "max": "*",
        "mustSupport": true
      },
      {
        "id": "Observation.component:cnb.code",
        "path": "Observation.component.code",
        "patternCodeableConcept": {
          "coding": [
            {
              "code": "copy-number-allele-b",
              "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"
            }
          ]
        },
        "mustSupport": true
      },
      {
        "id": "Observation.component:cnb.value[x]",
        "path": "Observation.component.value[x]",
        "slicing": {
          "discriminator": [
            {
              "type": "type",
              "path": "$this"
            }
          ],
          "ordered": false,
          "rules": "open"
        }
      },
      {
        "id": "Observation.component:cnb.value[x]:valueQuantity",
        "path": "Observation.component.value[x]",
        "sliceName": "valueQuantity",
        "min": 0,
        "max": "1",
        "type": [
          {
            "code": "Quantity"
          }
        ],
        "mustSupport": true
      },
      {
        "id": "Observation.component:reported-focality",
        "path": "Observation.component",
        "sliceName": "reported-focality",
        "short": "Reported focality",
        "definition": "Reported focality",
        "min": 0,
        "max": "*",
        "mustSupport": true
      },
      {
        "id": "Observation.component:reported-focality.code",
        "path": "Observation.component.code",
        "patternCodeableConcept": {
          "coding": [
            {
              "code": "reported-focality",
              "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"
            }
          ]
        },
        "mustSupport": true
      },
      {
        "id": "Observation.component:reported-focality.value[x]",
        "path": "Observation.component.value[x]",
        "slicing": {
          "discriminator": [
            {
              "type": "type",
              "path": "$this"
            }
          ],
          "ordered": false,
          "rules": "open"
        }
      },
      {
        "id": "Observation.component:reported-focality.value[x]:valueQuantity",
        "path": "Observation.component.value[x]",
        "sliceName": "valueQuantity",
        "min": 0,
        "max": "1",
        "type": [
          {
            "code": "Quantity"
          }
        ],
        "mustSupport": true
      },
      {
        "id": "Observation.component:cnv-type",
        "path": "Observation.component",
        "sliceName": "cnv-type",
        "short": "CNV Type",
        "definition": "Copy Number Variant Type",
        "min": 0,
        "max": "*",
        "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": {
          "discriminator": [
            {
              "type": "type",
              "path": "$this"
            }
          ],
          "ordered": false,
          "rules": "open"
        }
      },
      {
        "id": "Observation.component:cnv-type.value[x]:valueCodeableConcept",
        "path": "Observation.component.value[x]",
        "sliceName": "valueCodeableConcept",
        "min": 0,
        "max": "1",
        "type": [
          {
            "code": "CodeableConcept"
          }
        ],
        "mustSupport": true
      },
      {
        "id": "Observation.component:copy-number-neutral-loh",
        "path": "Observation.component",
        "sliceName": "copy-number-neutral-loh",
        "short": "Copy number neutral LoH",
        "definition": "Copy number neutral Loss of heterozygosity",
        "min": 0,
        "max": "*",
        "mustSupport": true
      },
      {
        "id": "Observation.component:copy-number-neutral-loh.code",
        "path": "Observation.component.code",
        "patternCodeableConcept": {
          "coding": [
            {
              "code": "copy-number-neutral-loh",
              "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"
            }
          ]
        },
        "mustSupport": true
      },
      {
        "id": "Observation.component:copy-number-neutral-loh.value[x]",
        "path": "Observation.component.value[x]",
        "slicing": {
          "discriminator": [
            {
              "type": "type",
              "path": "$this"
            }
          ],
          "ordered": false,
          "rules": "open"
        }
      },
      {
        "id": "Observation.component:copy-number-neutral-loh.value[x]:valueCodeableConcept",
        "path": "Observation.component.value[x]",
        "sliceName": "valueCodeableConcept",
        "min": 0,
        "max": "1",
        "type": [
          {
            "code": "CodeableConcept"
          }
        ],
        "mustSupport": true
      }
    ]
  }
}