MII IG Kerndatensatz-Modul Seltene Erkrankungen
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: DMD Exon 45 - Diagnostische Implikation (Duchenne)

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{
  "resourceType" : "DiagnosticReport",
  "id" : "mii-exa-seltene-molgen-diagnostic-dmd-duchenne",
  "language" : "en",
  "text" : {
    "status" : "generated",
    "div" : "<div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><p class=\"res-header-id\"><b>Generated Narrative: DiagnosticReport mii-exa-seltene-molgen-diagnostic-dmd-duchenne</b></p><a name=\"mii-exa-seltene-molgen-diagnostic-dmd-duchenne\"> </a><a name=\"hcmii-exa-seltene-molgen-diagnostic-dmd-duchenne\"> </a><h2><span title=\"Codes:{http://loinc.org 51969-4}\">Genetic analysis report</span> (<span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 LAB}\">Laboratory</span>) </h2><table class=\"grid\"><tr><td>Subject</td><td>Max Mustermann (official) Male, DoB: 1990-01-01 ( http://test-krankenhaus.de/fhir/sid/patienten#12345)</td></tr><tr><td>Relevant Time</td><td>2024-09-15</td></tr></table><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td><td><b>Note</b></td></tr><tr><td><a href=\"Observation-mii-exa-seltene-molgen-variant-dmd-deletion-exon45.html\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://snomed.info/sct 10828004}\">Positive</span></td><td>Final</td><td><blockquote><div><p>Deletion des Exons 45 (176 Basen, nicht durch drei teilbar). Das Leseraster verschiebt sich, es entsteht ein vorzeitiges Stopcodon und kein funktionsfaehiges Dystrophin. Duchenne-Muskeldystrophie.</p>\n</div></blockquote></td></tr></table><p>Out-of-frame Deletion des Exons 45 im DMD-Gen. Leserasterverschiebung mit vorzeitigem Stopcodon und komplettem Verlust des funktionsfaehigen Dystrophins. Diagnose: Duchenne-Muskeldystrophie.</p><p><b>Coded Conclusions:</b></p><ul><li><span title=\"Codes:{http://omim.org 310200}\">Duchenne muscular dystrophy</span></li></ul></div>"
  },
  "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"
    }
  ],
  "conclusion" : "Out-of-frame Deletion des Exons 45 im DMD-Gen. Leserasterverschiebung mit vorzeitigem Stopcodon und komplettem Verlust des funktionsfaehigen Dystrophins. Diagnose: Duchenne-Muskeldystrophie.",
  "conclusionCode" : [
    {
      "coding" : [
        {
          "system" : "http://omim.org",
          "code" : "310200",
          "display" : "Duchenne muscular dystrophy"
        }
      ]
    }
  ]
}