FHIR IG analytics

Resources that use this resource

No resources found

Resources that this resource uses

No resources found

Narrative

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

Source1

{
  "resourceType": "DiagnosticReport",
  "id": "mii-exa-seltene-molgen-diagnostic-dmd",
  "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": "2024-09-15",
  "result": [
    {
      "reference": "Observation/mii-exa-seltene-molgen-variant-dmd-deletion-exon45-47"
    }
  ],
  "conclusion": "In-frame Deletion der Exons 45-47 im DMD-Gen (c.6439-?_6912+?del, 474 Basen — durch drei teilbar, das Leseraster bleibt erhalten). Es entsteht ein verkürztes, aber teilfunktionsfähiges Dystrophin. Vereinbar mit Becker-Muskeldystrophie; Duchenne-Muskeldystrophie ist damit ausgeschlossen.",
  "conclusionCode": [
    {
      "coding": [
        {
          "system": "http://omim.org",
          "code": "300376",
          "display": "Becker muscular dystrophy"
        }
      ]
    }
  ]
}