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

: DMD Exon 45 Deletion - MolGen Variante

Raw xml | Download


<Observation xmlns="http://hl7.org/fhir">
  <id value="mii-exa-seltene-molgen-variant-dmd-deletion-exon45"/>
  <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-variant-dmd-deletion-exon45</b></p><a name="mii-exa-seltene-molgen-variant-dmd-deletion-exon45"> </a><a name="hcmii-exa-seltene-molgen-variant-dmd-deletion-exon45"> </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>: 2024-09-15</p><p><b>value</b>: <span title="Codes:{http://snomed.info/sct 10828004}">Positive</span></p><p><b>note</b>: </p><blockquote><div><p>Deletion des Exons 45 (176 Basen, nicht durch drei teilbar). Das Leseraster verschiebt sich, es entsteht ein vorzeitiges Stopcodon und kein funktionsfaehiges Dystrophin. Duchenne-Muskeldystrophie.</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:2928}">DMD</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48002-0}">Genomic source class</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6683-2}">Germline</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:">Deleted Exons</span></p><p><b>value</b>: Exon 45</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 53037-8}">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6668-3}">Pathogenic</span></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="2024-09-15"/>
  <valueCodeableConcept>
    <coding>
      <system value="http://snomed.info/sct"/>
      <code value="10828004"/>
      <display value="Positive"/>
    </coding>
  </valueCodeableConcept>
  <note>
    <text
          value="Deletion des Exons 45 (176 Basen, nicht durch drei teilbar). Das Leseraster verschiebt sich, es entsteht ein vorzeitiges Stopcodon und kein funktionsfaehiges Dystrophin. Duchenne-Muskeldystrophie."/>
  </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:2928"/>
        <display value="DMD"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48002-0"/>
        <display value="Genomic source class"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA6683-2"/>
        <display value="Germline"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <text value="Deleted Exons"/>
    </code>
    <valueString value="Exon 45"/>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="53037-8"/>
        <display value="Genetic variation clinical significance [Imp]"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA6668-3"/>
        <display value="Pathogenic"/>
      </coding>
    </valueCodeableConcept>
  </component>
</Observation>