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

: SMA Diagnostische Implikation - MolGen

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<DiagnosticReport xmlns="http://hl7.org/fhir">
  <id value="mii-exa-seltene-molgen-diagnostic-implication-sma"/>
  <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-diagnostic-implication-sma</b></p><a name="de-mii-exa-seltene-molgen-diagnostic-implication-sma"> </a><a name="de-hcmii-exa-seltene-molgen-diagnostic-implication-sma"> </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>2024-07-26</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-smn1-deletion.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, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation POS}">Positive</span></td></tr></table><p>Homozygote Deletion des SMN1-Gens nachgewiesen. Diagnose: Spinale Muskelatrophie. 2 Kopien des SMN2-Gens vorhanden, vereinbar mit schwerem Phänotyp (Typ 1).</p><p><b>Coded Conclusions:</b></p><ul><li><span title="Codes:{http://omim.org 253300}">Spinal muscular atrophy, type I</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="51969-4"/>
      <display value="Genetic analysis report"/>
    </coding>
  </code>
  <subject>🔗 
    <reference value="Patient/mii-exa-seltene-patient"/>
  </subject>
  <effectiveDateTime value="2024-07-26"/>
  <result>🔗 
    <reference
               value="Observation/mii-exa-seltene-molgen-variant-smn1-deletion"/>
  </result>
  <conclusion
              value="Homozygote Deletion des SMN1-Gens nachgewiesen. Diagnose: Spinale Muskelatrophie. 2 Kopien des SMN2-Gens vorhanden, vereinbar mit schwerem Phänotyp (Typ 1)."/>
  <conclusionCode>
    <coding>
      <system value="http://omim.org"/>
      <code value="253300"/>
      <display value="Spinal muscular atrophy, type I"/>
    </coding>
  </conclusionCode>
</DiagnosticReport>