This page is part of the MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht (v2027.0.0-ballot.1: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

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: mii-exa-molgen-condition-nipbl-clinical

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<Condition xmlns="http://hl7.org/fhir">
  <id value="mii-exa-molgen-condition-nipbl-clinical"/>
  <meta>
    <profile
             value="https://www.medizininformatik-initiative.de/fhir/core/modul-diagnose/StructureDefinition/Diagnose"/>
  </meta>
  <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: Condition mii-exa-molgen-condition-nipbl-clinical</b></p><a name="de-mii-exa-molgen-condition-nipbl-clinical"> </a><a name="de-hcmii-exa-molgen-condition-nipbl-clinical"> </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="https://medizininformatik-initiative.github.io/kerndatensatz-basis/2027.0.0-ballot/StructureDefinition-mii-pr-diagnose-condition.html">MII PR Diagnose Condition</a></p></div><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>code</b>: <span title="Codes:{http://fhir.de/CodeSystem/bfarm/icd-10-gm Q87.1}, {http://www.omim.org 122470}">Angeborene Fehlbildungssyndrome, die vorwiegend mit Kleinwuchs einhergehen</span></p><p><b>subject</b>: <a href="Patient-mii-exa-molgen-patient-2.html">Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Krankenaktennummer (use: usual, ))</a></p><p><b>onset</b>: 2021-09-19 --&gt; (ongoing)</p><p><b>recordedDate</b>: 2022-03-06 07:36:00+0100</p><p><b>recorder</b>: <a href="Practitioner-mii-exa-molgen-practitioner-physician.html">Practitioner Dr. Linda Rubens(official)</a></p><p><b>asserter</b>: <a href="Practitioner-mii-exa-molgen-practitioner-physician.html">Practitioner Dr. Linda Rubens(official)</a></p><h3>Evidences</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Detail</b></td></tr><tr><td style="display: none">*</td><td><a href="DiagnosticReport-mii-exa-molgen-befundbericht-2.html">Diagnostic Report for 'Genetic analysis report' for '-&gt;Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Krankenaktennummer (use: usual, ))'</a></td></tr></table></div>
  </text>
  <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>
  <code>
    <coding>
      <extension
                 url="http://fhir.de/StructureDefinition/icd-10-gm-diagnosesicherheit">
        <valueCoding>
          <system
                  value="https://fhir.kbv.de/CodeSystem/KBV_CS_SFHIR_ICD_DIAGNOSESICHERHEIT"/>
          <code value="G"/>
        </valueCoding>
      </extension>
      <system value="http://fhir.de/CodeSystem/bfarm/icd-10-gm"/>
      <version value="2021"/>
      <code value="Q87.1"/>
      <display
               value="Angeborene Fehlbildungssyndrome, die vorwiegend mit Kleinwuchs einhergehen"/>
    </coding>
    <coding>
      <system value="http://www.omim.org"/>
      <code value="122470"/>
      <display value="Cornelia de Lange syndrome 1"/>
    </coding>
  </code>
  <subject>🔗 
    <reference value="Patient/mii-exa-molgen-patient-2"/>
  </subject>
  <onsetPeriod>
    <start value="2021-09-19">
      <extension url="http://fhir.de/StructureDefinition/lebensphase">
        <valueCodeableConcept>
          <coding>
            <system value="http://snomed.info/sct"/>
            <code value="255407002"/>
            <display value="Neonatal (qualifier value)"/>
          </coding>
        </valueCodeableConcept>
      </extension>
    </start>
  </onsetPeriod>
  <recordedDate value="2022-03-06T07:36:00+01:00"/>
  <recorder>🔗 
    <reference value="Practitioner/mii-exa-molgen-practitioner-physician"/>
  </recorder>
  <asserter>🔗 
    <reference value="Practitioner/mii-exa-molgen-practitioner-physician"/>
  </asserter>
  <evidence>
    <detail>🔗 
      <reference value="DiagnosticReport/mii-exa-molgen-befundbericht-2"/>
    </detail>
  </evidence>
</Condition>