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. For a full list of available versions, see the Directory of published versions

: BRCA1/2 Panel - Diagnostische Implikation

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<DiagnosticReport xmlns="http://hl7.org/fhir">
  <id value="mii-exa-seltene-molgen-brca-panel"/>
  <language value="de"/>
  <text>
    <status value="generated"/>
    <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>
  </text>
  <status value="final"/>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
      <code value="LAB"/>
      <display value="Laboratory"/>
    </coding>
  </category>
  <code>
    <coding>
      <system value="http://loinc.org"/>
      <code value="81247-9"/>
      <display value="Master HL7 genetic variant reporting panel"/>
    </coding>
  </code>
  <subject>🔗 
    <reference value="Patient/mii-exa-seltene-patient"/>
  </subject>
  <effectiveDateTime value="2024-11-01"/>
  <result>🔗 
    <reference
               value="Observation/mii-exa-seltene-molgen-variant-brca1-pathogenic"/>
  </result>
  <conclusion
              value="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 value="http://omim.org"/>
      <code value="604370"/>
      <display value="Breast-ovarian cancer, familial, 1"/>
    </coding>
  </conclusionCode>
</DiagnosticReport>