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Narrative

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Source1

{
  "resourceType": "DiagnosticReport",
  "id": "mii-exa-seltene-molgen-diagnostic-implication-sma",
  "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": "2024-07-26",
  "result": [
    {
      "reference": "Observation/mii-exa-seltene-molgen-variant-smn1-deletion"
    }
  ],
  "conclusion": "Homozygote Deletion des SMN1-Gens nachgewiesen. Diagnose: Spinale Muskelatrophie. 2 Kopien des SMN2-Gens vorhanden, vereinbar mit schwerem Phänotyp (Typ 1).",
  "conclusionCode": [
    {
      "coding": [
        {
          "system": "http://omim.org",
          "code": "253300",
          "display": "Spinal muscular atrophy, type I"
        }
      ]
    }
  ]
}