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Packagede.medizininformatikinitiative.kerndatensatz.mtb
Resource TypeObservation
IdObservation-MII-EXA-MTB-Copy-Number-Variant-1.json
FHIR VersionR4

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Source1

{
  "resourceType": "Observation",
  "id": "MII-EXA-MTB-Copy-Number-Variant-1",
  "meta": {
    "profile": [
      "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-copy-number-variant|2026.0.0"
    ]
  },
  "category": [
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/observation-category",
          "code": "laboratory",
          "display": "Laboratory"
        }
      ]
    },
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code": "GE"
        }
      ]
    }
  ],
  "component": [
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48000-4"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "code": "LA21270-6",
            "system": "http://loinc.org",
            "display": "Chromosome 17"
          }
        ]
      }
    },
    {
      "valueRange": {
        "low": {
          "value": 43044295
        },
        "high": {
          "value": 43125364
        }
      },
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "81254-5"
          }
        ]
      }
    },
    {
      "valueQuantity": {
        "value": 3,
        "code": "1",
        "system": "http://unitsofmeasure.org"
      },
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "82155-3"
          }
        ]
      }
    },
    {
      "valueQuantity": {
        "value": 1.5,
        "code": "1",
        "system": "http://unitsofmeasure.org"
      },
      "code": {
        "coding": [
          {
            "code": "relative-copy-number",
            "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"
          }
        ]
      }
    },
    {
      "valueQuantity": {
        "value": 1,
        "code": "1",
        "system": "http://unitsofmeasure.org"
      },
      "code": {
        "coding": [
          {
            "code": "copy-number-allele-a",
            "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"
          }
        ]
      }
    },
    {
      "valueQuantity": {
        "value": 2,
        "code": "1",
        "system": "http://unitsofmeasure.org"
      },
      "code": {
        "coding": [
          {
            "code": "copy-number-allele-b",
            "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48018-6"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "code": "HGNC:1100",
            "display": "BRCA1"
          }
        ]
      }
    },
    {
      "valueQuantity": {
        "value": 100,
        "code": "%",
        "system": "http://unitsofmeasure.org"
      },
      "code": {
        "coding": [
          {
            "code": "reported-focality",
            "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "code": "type",
            "system": "http://bwhc.de/mtb/genetics-copy-number-variant"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "code": "high-level-gain",
            "system": "http://bwhc.de/mtb/genetics-copy-number-variant",
            "display": "high-level-gain"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "code": "copy-number-neutral-loh",
            "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "code": "LA33-6",
            "system": "http://loinc.org"
          }
        ]
      }
    }
  ],
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "69548-6",
        "display": "Genetic variant assessment"
      }
    ]
  },
  "status": "final",
  "subject": {
    "reference": "Patient/example"
  }
}