MII IG Kerndatensatz-Modul Seltene Erkrankungen
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MII IG Kerndatensatz-Modul Seltene Erkrankungen - Downloaded Version 2027.0.0-ballot See the Directory of published versions

: SMA Genetik - Negativbefund

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<DiagnosticReport xmlns="http://hl7.org/fhir">
  <id value="mii-exa-seltene-molgen-sma-negative"/>
  <language value="en"/>
  <text>
    <status value="generated"/>
    <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-sma-negative</b></p><a name="mii-exa-seltene-molgen-sma-negative"> </a><a name="hcmii-exa-seltene-molgen-sma-negative"> </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><td><b>Note</b></td></tr><tr><td><a href="Observation-mii-exa-seltene-molgen-smn1-normal-copies.html"><span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes:{http://snomed.info/sct 280413001}">Normal result</span></td><td>Final, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation N}">Normal</span></td><td><blockquote><div><p>Normale Kopienanzahl des SMN1-Gens. SMA ausgeschlossen.</p>
</div></blockquote></td></tr></table><p>SMN1-Gen: 2 Kopien (Normalbefund). SMN2-Gen: 2 Kopien. Spinale Muskelatrophie ausgeschlossen.</p><p><b>Coded Conclusions:</b></p><ul><li><span title="Codes:{http://snomed.info/sct 280413001}">Normal result</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-smn1-normal-copies"/>
  </result>
  <conclusion
              value="SMN1-Gen: 2 Kopien (Normalbefund). SMN2-Gen: 2 Kopien. Spinale Muskelatrophie ausgeschlossen."/>
  <conclusionCode>
    <coding>
      <system value="http://snomed.info/sct"/>
      <code value="280413001"/>
      <display value="Normal result"/>
    </coding>
  </conclusionCode>
</DiagnosticReport>