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Narrative

Note: links and images are rebased to the (stated) source

Source1

{
  "resourceType": "Observation",
  "id": "mii-exa-mtb-kim-musterperson-CNVariante-CCNE1",
  "meta": {
    "profile": [
      "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-copy-number-variant|2027.0.0-ballot.1"
    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "status": "final",
  "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"
        }
      ]
    }
  ],
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "69548-6",
        "display": "Genetic variant assessment"
      }
    ]
  },
  "subject": {
    "reference": "Patient/PatientKimMusterperson"
  },
  "valueCodeableConcept": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "LA9633-4",
        "display": "Present"
      }
    ]
  },
  "component": [
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48018-6",
            "display": "Gene studied [ID]"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.genenames.org/geneId",
            "code": "HGNC:1589",
            "display": "CCNE1"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://bwhc.de/mtb/genetics-copy-number-variant",
            "code": "type"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://bwhc.de/mtb/genetics-copy-number-variant",
            "code": "high-level-gain",
            "display": "high-level-gain"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "82155-3",
            "display": "Genomic structural variant copy number"
          }
        ]
      },
      "valueQuantity": {
        "value": 7,
        "system": "http://unitsofmeasure.org",
        "code": "1"
      }
    }
  ]
}