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

: SMN2 Gen - Kopienanzahl

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<Observation xmlns="http://hl7.org/fhir">
  <id value="mii-exa-seltene-variant-smn2-001"/>
  <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: Observation mii-exa-seltene-variant-smn2-001</b></p><a name="de-mii-exa-seltene-variant-smn2-001"> </a><a name="de-hcmii-exa-seltene-variant-smn2-001"> </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 55233-1}">Genetic analysis master panel</span></p><p><b>subject</b>: <a href="Patient-mii-exa-seltene-patient-sma-001.html">Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)</a></p><p><b>effective</b>: 2024-07-26</p><p><b>note</b>: </p><blockquote><div><p>2 Kopien des SMN2-Gens, Modifikator des Phänotyps</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:11118}">SMN2</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 copies</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="55233-1"/>
      <display value="Genetic analysis master panel"/>
    </coding>
  </code>
  <subject>🔗 
    <reference value="Patient/mii-exa-seltene-patient-sma-001"/>
  </subject>
  <effectiveDateTime value="2024-07-26"/>
  <note>
    <text value="2 Kopien des SMN2-Gens, Modifikator des Phänotyps"/>
  </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:11118"/>
        <display value="SMN2"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <text value="Copy Number"/>
    </code>
    <valueQuantity>
      <value value="2"/>
      <unit value="copies"/>
    </valueQuantity>
  </component>
</Observation>