MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot - Germany

This page is part of the MII Implementation Guide Seltene Erkrankungen (v2027.0.0-ballot: 2027 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

: BRCA1/2 Panel - Diagnostische Implikation

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{
  "resourceType" : "DiagnosticReport",
  "id" : "mii-exa-seltene-molgen-brca-panel",
  "language" : "de",
  "text" : {
    "status" : "generated",
    "div" : "<div xml:lang=\"de\" lang=\"de\"><hr/><p><b>German</b></p><hr/><p class=\"res-header-id\"><b>Generated Narrative: DiagnosticReport mii-exa-seltene-molgen-brca-panel</b></p><a name=\"de-mii-exa-seltene-molgen-brca-panel\"> </a><a name=\"de-hcmii-exa-seltene-molgen-brca-panel\"> </a><h2><span title=\"Codes:{http://loinc.org 81247-9}\">Master HL7 genetic variant reporting panel</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>2024-11-01</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></tr><tr><td><a href=\"Observation-mii-exa-seltene-molgen-variant-brca1-pathogenic.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></tr></table><p>Pathogene Variante c.68_69del (p.Glu23Valfs*17) in BRCA1 nachgewiesen. Diese Frameshift-Mutation führt zu einem vorzeitigen Stopcodon. Erhöhtes Risiko für Mamma- und Ovarialkarzinom. Lebenszeitrisiko Mammakarzinom: 60-72%, Ovarialkarzinom: 40-44%.</p><p><b>Coded Conclusions:</b></p><ul><li><span title=\"Codes:{http://omim.org 604370}\">Breast-ovarian cancer, familial, 1</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" : "81247-9",
        "display" : "Master HL7 genetic variant reporting panel"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/mii-exa-seltene-patient"
  },
  "effectiveDateTime" : "2024-11-01",
  "result" : [
    {
      🔗 "reference" : "Observation/mii-exa-seltene-molgen-variant-brca1-pathogenic"
    }
  ],
  "conclusion" : "Pathogene Variante c.68_69del (p.Glu23Valfs*17) in BRCA1 nachgewiesen. Diese Frameshift-Mutation führt zu einem vorzeitigen Stopcodon. Erhöhtes Risiko für Mamma- und Ovarialkarzinom. Lebenszeitrisiko Mammakarzinom: 60-72%, Ovarialkarzinom: 40-44%.",
  "conclusionCode" : [
    {
      "coding" : [
        {
          "system" : "http://omim.org",
          "code" : "604370",
          "display" : "Breast-ovarian cancer, familial, 1"
        }
      ]
    }
  ]
}