MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot - Germany

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

: Noonan-Syndrom - Klinische Diagnose

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<Condition xmlns="http://hl7.org/fhir">
  <id value="mii-exa-seltene-example-noonan-clinical-diagnosis"/>
  <meta>
    <profile
             value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-diagnosis|2027.0.0-ballot"/>
  </meta>
  <language value="en"/>
  <text>
    <status value="extensions"/>
    <div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><p class="res-header-id"><b>Generated Narrative: Condition mii-exa-seltene-example-noonan-clinical-diagnosis</b></p><a name="mii-exa-seltene-example-noonan-clinical-diagnosis"> </a><a name="hcmii-exa-seltene-example-noonan-clinical-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-clinical-diagnosis.html">MII PR SE Clinical Diagnosis</a> version: 2027.0.0-ballot</p></div><p><b>Condition Asserted Date</b>: 2024-10-20</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 provisional}">Provisional</span></p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/condition-category encounter-diagnosis}">Encounter Diagnosis</span></p><p><b>code</b>: <span title="Codes:{http://fhir.de/CodeSystem/bfarm/icd-10-gm Q87.1}, {http://snomed.info/sct 205824006}, {http://www.orpha.net 648}">Noonan-Syndrom</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>recordedDate</b>: 2024-10-20</p><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title="Codes:{http://human-phenotype-ontology.org HP:0000316}">Hypertelorism</span></p><p><b>detail</b>: <a href="Observation-mii-exa-seltene-hypertelorism.html">Observation Hypertelorism</a></p></blockquote><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title="Codes:{http://human-phenotype-ontology.org HP:0000463}">Anteverted nares</span></p><p><b>detail</b>: <a href="Observation-mii-exa-seltene-anteverted-nares.html">Observation Anteverted nares</a></p></blockquote><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title="Codes:{http://human-phenotype-ontology.org HP:0001629}">Ventricular septal defect</span></p><p><b>detail</b>: <a href="Observation-mii-exa-seltene-vsd.html">Observation Ventricular septal defect</a></p></blockquote><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title="Codes:{http://human-phenotype-ontology.org HP:0001004}">Lymphedema</span></p><p><b>detail</b>: <a href="Observation-mii-exa-seltene-lymphedema.html">Observation Lymphedema</a></p></blockquote></div>
  </text>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/condition-assertedDate">
    <valueDateTime value="2024-10-20"/>
  </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="provisional"/>
    </coding>
  </verificationStatus>
  <category>
    <coding>
      <system
              value="http://terminology.hl7.org/CodeSystem/condition-category"/>
      <code value="encounter-diagnosis"/>
    </coding>
  </category>
  <code>
    <coding>
      <system value="http://fhir.de/CodeSystem/bfarm/icd-10-gm"/>
      <version value="2024"/>
      <code value="Q87.1"/>
      <display
               value="Angeborene Fehlbildungssyndrome, die vorwiegend mit Kleinwuchs einhergehen"/>
    </coding>
    <coding>
      <system value="http://snomed.info/sct"/>
      <code value="205824006"/>
      <display value="Noonan syndrome"/>
    </coding>
    <coding>
      <system value="http://www.orpha.net"/>
      <code value="648"/>
      <display value="Noonan syndrome"/>
    </coding>
    <text value="Noonan-Syndrom"/>
  </code>
  <subject>🔗 
    <reference value="Patient/mii-exa-seltene-patient"/>
  </subject>
  <recordedDate value="2024-10-20"/>
  <evidence>
    <code>
      <coding>
        <system value="http://human-phenotype-ontology.org"/>
        <code value="HP:0000316"/>
        <display value="Hypertelorism"/>
      </coding>
    </code>
    <detail>🔗 
      <reference value="Observation/mii-exa-seltene-hypertelorism"/>
    </detail>
  </evidence>
  <evidence>
    <code>
      <coding>
        <system value="http://human-phenotype-ontology.org"/>
        <code value="HP:0000463"/>
        <display value="Anteverted nares"/>
      </coding>
    </code>
    <detail>🔗 
      <reference value="Observation/mii-exa-seltene-anteverted-nares"/>
    </detail>
  </evidence>
  <evidence>
    <code>
      <coding>
        <system value="http://human-phenotype-ontology.org"/>
        <code value="HP:0001629"/>
        <display value="Ventricular septal defect"/>
      </coding>
    </code>
    <detail>🔗 
      <reference value="Observation/mii-exa-seltene-vsd"/>
    </detail>
  </evidence>
  <evidence>
    <code>
      <coding>
        <system value="http://human-phenotype-ontology.org"/>
        <code value="HP:0001004"/>
        <display value="Lymphedema"/>
      </coding>
    </code>
    <detail>🔗 
      <reference value="Observation/mii-exa-seltene-lymphedema"/>
    </detail>
  </evidence>
</Condition>