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Narrative

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Source1

{
  "resourceType": "DiagnosticReport",
  "id": "mii-exa-seltene-molgen-cf-diagnostic",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "status": "final",
  "category": [
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code": "LAB",
          "display": "Laboratory"
        }
      ]
    }
  ],
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "51969-4",
        "display": "Genetic analysis report"
      }
    ]
  },
  "subject": {
    "reference": "Patient/mii-exa-seltene-patient"
  },
  "effectiveDateTime": "2024-08-25",
  "result": [
    {
      "reference": "Observation/mii-exa-seltene-molgen-variant-cftr-f508del-homozygous"
    }
  ],
  "conclusion": "Homozygot für die F508del-Mutation (p.Phe508del, c.1521_1523delCTT) im CFTR-Gen. Dies ist die häufigste CF-verursachende Mutation. Bei Homozygotie ist mit einem klassischen, schweren CF-Phänotyp zu rechnen.",
  "conclusionCode": [
    {
      "coding": [
        {
          "system": "http://omim.org",
          "code": "219700",
          "display": "Cystic fibrosis"
        }
      ]
    }
  ]
}