FHIR IG analytics

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Source1

{
  "resourceType": "DiagnosticReport",
  "id": "molgen-diagnostic-dmd",
  "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/example"
  },
  "effectiveDateTime": "2024-09-15",
  "result": [
    {
      "reference": "Observation/molgen-variant-dmd-deletion-exon45-47"
    }
  ],
  "conclusion": "Out-of-frame Deletion der Exons 45-47 im DMD-Gen. Diese Mutation führt zu einem vorzeitigen Stopcodon und komplettem Verlust des funktionsfähigen Dystrophin-Proteins. Diagnose: Duchenne-Muskeldystrophie.",
  "conclusionCode": [
    {
      "coding": [
        {
          "system": "http://omim.org",
          "code": "310200",
          "display": "Duchenne muscular dystrophy"
        }
      ]
    }
  ]
}