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

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: SMN1 - Normale Kopienanzahl

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<Observation xmlns="http://hl7.org/fhir">
  <id value="mii-exa-seltene-molgen-smn1-normal-copies"/>
  <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: Observation mii-exa-seltene-molgen-smn1-normal-copies</b></p><a name="mii-exa-seltene-molgen-smn1-normal-copies"> </a><a name="hcmii-exa-seltene-molgen-smn1-normal-copies"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></p><p><b>subject</b>: <a href="Patient-mii-exa-seltene-patient.html">Max Mustermann (official) Male, DoB: 1990-01-01 ( http://test-krankenhaus.de/fhir/sid/patienten#12345)</a></p><p><b>effective</b>: 2024-07-26</p><p><b>value</b>: <span title="Codes:{http://snomed.info/sct 280413001}">Normal result</span></p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation N}">Normal</span></p><p><b>note</b>: </p><blockquote><div><p>Normale Kopienanzahl des SMN1-Gens. SMA ausgeschlossen.</p>
</div></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48018-6}">Gene studied [ID]</span></p><p><b>value</b>: <span title="Codes:{http://www.genenames.org/geneId HGNC:11117}">SMN1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:">Copy Number</span></p><p><b>value</b>: 2</p></blockquote></div>
  </text>
  <status value="final"/>
  <category>
    <coding>
      <system
              value="http://terminology.hl7.org/CodeSystem/observation-category"/>
      <code value="laboratory"/>
    </coding>
  </category>
  <code>
    <coding>
      <system value="http://loinc.org"/>
      <code value="69548-6"/>
      <display value="Genetic variant assessment"/>
    </coding>
  </code>
  <subject>🔗 
    <reference value="Patient/mii-exa-seltene-patient"/>
  </subject>
  <effectiveDateTime value="2024-07-26"/>
  <valueCodeableConcept>
    <coding>
      <system value="http://snomed.info/sct"/>
      <code value="280413001"/>
      <display value="Normal result"/>
    </coding>
  </valueCodeableConcept>
  <interpretation>
    <coding>
      <system
              value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
      <code value="N"/>
      <display value="Normal"/>
    </coding>
  </interpretation>
  <note>
    <text value="Normale Kopienanzahl des SMN1-Gens. SMA ausgeschlossen."/>
  </note>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48018-6"/>
        <display value="Gene studied [ID]"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://www.genenames.org/geneId"/>
        <code value="HGNC:11117"/>
        <display value="SMN1"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <text value="Copy Number"/>
    </code>
    <valueInteger value="2"/>
  </component>
</Observation>