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

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: SMA Typ 1 - Genetisch bestätigte Diagnose

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<Condition xmlns="http://hl7.org/fhir">
  <id value="mii-exa-seltene-example-sma-genetic-diagnosis"/>
  <meta>
    <profile
             value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-genetic-diagnosis|2027.0.0-ballot"/>
  </meta>
  <language value="de"/>
  <text>
    <status value="extensions"/>
    <div xml:lang="de" lang="de"><hr/><p><b>German</b></p><hr/><p class="res-header-id"><b>Generated Narrative: Condition mii-exa-seltene-example-sma-genetic-diagnosis</b></p><a name="de-mii-exa-seltene-example-sma-genetic-diagnosis"> </a><a name="de-hcmii-exa-seltene-example-sma-genetic-diagnosis"> </a><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px"/><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-mii-pr-seltene-genetic-diagnosis.html">MII PR SE Genetic Diagnosis</a> version: 2027.0.0-ballot</p></div><p><b>Condition Asserted Date</b>: 2024-07-26</p><p><b>clinicalStatus</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/condition-clinical active}">Active</span></p><p><b>verificationStatus</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/condition-ver-status confirmed}">Confirmed</span></p><p><b>category</b>: <span title="Codes:{http://snomed.info/sct 782964007}">Genetic disease</span></p><p><b>code</b>: <span title="Codes:{http://omim.org 253300}, {http://snomed.info/sct 64383006}, {http://www.orpha.net 83330}">Spinale Muskelatrophie Typ 1, genetisch bestätigt</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>encounter</b>: <a href="Encounter-mii-exa-seltene-encounter-genetic-consultation.html">Encounter: status = finished; class = ambulatory (ActCode#AMB); type = Genetic counseling; period = 2024-09-15 --&gt; 2024-09-15</a></p><p><b>onset</b>: 2024-07-01</p><p><b>recordedDate</b>: 2024-07-26</p><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title="Codes:{http://snomed.info/sct 106221001}">Genetic finding</span></p><p><b>detail</b>: <a href="Observation-mii-exa-seltene-molgen-variant-smn1-deletion.html">Observation Genetic variant assessment</a></p></blockquote><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title="Codes:{http://snomed.info/sct 405824009}">Genetic test</span></p><p><b>detail</b>: <a href="DiagnosticReport-mii-exa-seltene-molgen-diagnostic-implication-sma.html">Diagnostic Report for 'Genetic analysis report' for '-&gt;Max Mustermann (official) Male, DoB: 1990-01-01 ( http://test-krankenhaus.de/fhir/sid/patienten#12345)'</a></p></blockquote><p><b>note</b>: </p><blockquote><div><p>Homozygote Deletion des SMN1-Gens nachgewiesen. 0 Kopien SMN1, 2 Kopien SMN2. Diagnose molekulargenetisch gesichert.</p>
</div></blockquote></div>
  </text>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/condition-assertedDate">
    <valueDateTime value="2024-07-26"/>
  </extension>
  <clinicalStatus>
    <coding>
      <system
              value="http://terminology.hl7.org/CodeSystem/condition-clinical"/>
      <code value="active"/>
    </coding>
  </clinicalStatus>
  <verificationStatus>
    <coding>
      <system
              value="http://terminology.hl7.org/CodeSystem/condition-ver-status"/>
      <code value="confirmed"/>
    </coding>
  </verificationStatus>
  <category>
    <coding>
      <system value="http://snomed.info/sct"/>
      <code value="782964007"/>
      <display value="Genetic disease"/>
    </coding>
  </category>
  <code>
    <coding>
      <system value="http://omim.org"/>
      <version value="2024"/>
      <code value="253300"/>
      <display value="Spinal muscular atrophy, type I"/>
    </coding>
    <coding>
      <system value="http://snomed.info/sct"/>
      <code value="64383006"/>
      <display value="Werdnig-Hoffmann disease"/>
    </coding>
    <coding>
      <system value="http://www.orpha.net"/>
      <code value="83330"/>
      <display value="Proximal spinal muscular atrophy type 1"/>
    </coding>
    <text value="Spinale Muskelatrophie Typ 1, genetisch bestätigt"/>
  </code>
  <subject>🔗 
    <reference value="Patient/mii-exa-seltene-patient"/>
  </subject>
  <encounter>🔗 
    <reference
               value="Encounter/mii-exa-seltene-encounter-genetic-consultation"/>
  </encounter>
  <onsetDateTime value="2024-07-01"/>
  <recordedDate value="2024-07-26"/>
  <evidence>
    <code>
      <coding>
        <system value="http://snomed.info/sct"/>
        <code value="106221001"/>
        <display value="Genetic finding"/>
      </coding>
    </code>
    <detail>🔗 
      <reference
                 value="Observation/mii-exa-seltene-molgen-variant-smn1-deletion"/>
    </detail>
  </evidence>
  <evidence>
    <code>
      <coding>
        <system value="http://snomed.info/sct"/>
        <code value="405824009"/>
        <display value="Genetic test"/>
      </coding>
    </code>
    <detail>🔗 
      <reference
                 value="DiagnosticReport/mii-exa-seltene-molgen-diagnostic-implication-sma"/>
    </detail>
  </evidence>
  <note>
    <text
          value="Homozygote Deletion des SMN1-Gens nachgewiesen. 0 Kopien SMN1, 2 Kopien SMN2. Diagnose molekulargenetisch gesichert."/>
  </note>
</Condition>