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. For a full list of available versions, see the Directory of published versions

: Konsultation ZSE bei V.a. Marfan-Syndrom

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<ClinicalImpression xmlns="http://hl7.org/fhir">
  <id value="mii-exa-seltene-clinical-impression-seltene-assessment"/>
  <meta>
    <profile
             value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-impression|2027.0.0-ballot"/>
  </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: ClinicalImpression mii-exa-seltene-clinical-impression-seltene-assessment</b></p><a name="de-mii-exa-seltene-clinical-impression-seltene-assessment"> </a><a name="de-hcmii-exa-seltene-clinical-impression-seltene-assessment"> </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-impression.html">MII Profile SE Clinical Impression</a> version: 2027.0.0-ballot</p></div><p><b>status</b>: Completed</p><p><b>subject</b>: <a href="Patient-mii-exa-seltene-patient-marfan-001.html">Anonymous Patient Male, DoB: 2005-01-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#MRF-2024-001)</a></p><p><b>encounter</b>: <a href="Encounter-mii-exa-seltene-encounter-cardiology.html">Encounter: status = finished; class = ambulatory (ActCode#AMB); type = Seen in cardiac clinic (finding); period = 2024-12-15 --&gt; 2024-12-15; reasonCode = Chest pain</a></p><p><b>effective</b>: 2024-12-15</p><p><b>date</b>: 2024-12-15</p><p><b>problem</b>: </p><ul><li><a href="Condition-mii-exa-seltene-condition-marfan-suspected.html">Condition Marfan-Syndrom</a></li><li><a href="Condition-mii-exa-seltene-condition-marfan-clinical.html">Condition Marfan syndrome</a></li><li><a href="Condition-mii-exa-seltene-condition-marfan-genetic.html">Condition Marfan syndrome</a></li></ul><blockquote><p><b>investigation</b></p><p><b>code</b>: <span title="Codes:">Echokardiographie</span></p><p><b>item</b>: </p><ul><li><a href="Observation-mii-exa-seltene-observation-echo-aortic.html">Observation Aorta root Diameter by US 2D</a></li><li><a href="Observation-mii-exa-seltene-observation-echo-av.html">Observation Aortic valve Regurgitation degree by US.doppler</a></li><li><a href="Observation-mii-exa-seltene-observation-echo-mv.html">Observation Mitral valve Regurgitation degree by US.doppler</a></li></ul></blockquote><p><b>summary</b>: 19-jähriger Patient mit Z.n. Katarakt-OP im ZSE vorstellig. Kardiologische Mitbeurteilung zeigt: Aortenwurzeldilatation (48mm), AKI Grad II, MKI Grad I. Skelettale Merkmale (Hochwuchs 2,13m, Beinlängendifferenz) bestätigen Marfan-Syndrom. Klinische und genetische Diagnose gesichert.</p><blockquote><p><b>finding</b></p><p><b>itemReference</b>: <a href="Condition-mii-exa-seltene-condition-marfan-clinical.html">Condition Marfan syndrome</a></p></blockquote><blockquote><p><b>finding</b></p><p><b>itemReference</b>: <a href="Condition-mii-exa-seltene-condition-marfan-genetic.html">Condition Marfan syndrome</a></p></blockquote><blockquote><p><b>finding</b></p><p><b>itemCodeableConcept</b>: <span title="Codes:{http://snomed.info/sct 251036003}">Aortic root dilatation</span></p><p><b>itemReference</b>: <a href="Observation-mii-exa-seltene-symptom-aortic-root.html">Observation Aortic root aneurysm</a></p></blockquote><blockquote><p><b>finding</b></p><p><b>itemCodeableConcept</b>: <span title="Codes:{http://snomed.info/sct 60234000}">Aortic valve regurgitation</span></p><p><b>itemReference</b>: <a href="Observation-mii-exa-seltene-symptom-aortic-regurg.html">Observation Aortic regurgitation</a></p></blockquote><blockquote><p><b>finding</b></p><p><b>itemCodeableConcept</b>: <span title="Codes:{http://snomed.info/sct 48724000}">Mitral valve regurgitation</span></p><p><b>itemReference</b>: <a href="Observation-mii-exa-seltene-symptom-mitral-regurg.html">Observation Mitral regurgitation</a></p></blockquote><blockquote><p><b>finding</b></p><p><b>itemCodeableConcept</b>: <span title="Codes:{http://snomed.info/sct 248328003}">Tall stature</span></p><p><b>itemReference</b>: <a href="Observation-mii-exa-seltene-observation-height-001.html">Observation Body height</a></p></blockquote><blockquote><p><b>finding</b></p><p><b>itemCodeableConcept</b>: <span title="Codes:{http://snomed.info/sct 707738004}">Leg length discrepancy</span></p><p><b>itemReference</b>: <a href="Observation-mii-exa-seltene-observation-leg-asymmetry.html">Observation Leg length discrepancy</a></p></blockquote><p><b>prognosisCodeableConcept</b>: <span title="Codes:{http://snomed.info/sct 67334001}">Guarded prognosis</span></p><p><b>note</b>: , </p><blockquote><div><p>Katarakt in jungem Alter war Anlass für ZSE-Konsultation. Marfan-Syndrom klinisch und genetisch (FBN1-Mutation) bestätigt. OP-Indikation für Aortenwurzelersatz durch Kardiologie gestellt. Medikamentöse Therapie mit Losartan eingeleitet.</p>
</div></blockquote><blockquote><div><p>Multidisziplinäre Betreuung im ZSE etabliert. Regelmäßige kardiologische Kontrollen alle 6 Monate. Genetische Beratung für Familienplanung empfohlen.</p>
</div></blockquote></div>
  </text>
  <status value="completed"/>
  <subject>🔗 
    <reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
  </subject>
  <encounter>🔗 
    <reference value="Encounter/mii-exa-seltene-encounter-cardiology"/>
  </encounter>
  <effectiveDateTime value="2024-12-15"/>
  <date value="2024-12-15"/>
  <problem>🔗 
    <reference value="Condition/mii-exa-seltene-condition-marfan-suspected"/>
  </problem>
  <problem>🔗 
    <reference value="Condition/mii-exa-seltene-condition-marfan-clinical"/>
  </problem>
  <problem>🔗 
    <reference value="Condition/mii-exa-seltene-condition-marfan-genetic"/>
  </problem>
  <investigation>
    <code>
      <text value="Echokardiographie"/>
    </code>
    <item>🔗 
      <reference value="Observation/mii-exa-seltene-observation-echo-aortic"/>
    </item>
    <item>🔗 
      <reference value="Observation/mii-exa-seltene-observation-echo-av"/>
    </item>
    <item>🔗 
      <reference value="Observation/mii-exa-seltene-observation-echo-mv"/>
    </item>
  </investigation>
  <summary
           value="19-jähriger Patient mit Z.n. Katarakt-OP im ZSE vorstellig. Kardiologische Mitbeurteilung zeigt: Aortenwurzeldilatation (48mm), AKI Grad II, MKI Grad I. Skelettale Merkmale (Hochwuchs 2,13m, Beinlängendifferenz) bestätigen Marfan-Syndrom. Klinische und genetische Diagnose gesichert."/>
  <finding>
    <itemReference>🔗 
      <reference value="Condition/mii-exa-seltene-condition-marfan-clinical"/>
    </itemReference>
  </finding>
  <finding>
    <itemReference>🔗 
      <reference value="Condition/mii-exa-seltene-condition-marfan-genetic"/>
    </itemReference>
  </finding>
  <finding>
    <itemCodeableConcept>
      <coding>
        <system value="http://snomed.info/sct"/>
        <code value="251036003"/>
        <display value="Aortic root dilatation"/>
      </coding>
    </itemCodeableConcept>
    <itemReference>🔗 
      <reference value="Observation/mii-exa-seltene-symptom-aortic-root"/>
    </itemReference>
  </finding>
  <finding>
    <itemCodeableConcept>
      <coding>
        <system value="http://snomed.info/sct"/>
        <code value="60234000"/>
        <display value="Aortic valve regurgitation"/>
      </coding>
    </itemCodeableConcept>
    <itemReference>🔗 
      <reference value="Observation/mii-exa-seltene-symptom-aortic-regurg"/>
    </itemReference>
  </finding>
  <finding>
    <itemCodeableConcept>
      <coding>
        <system value="http://snomed.info/sct"/>
        <code value="48724000"/>
        <display value="Mitral valve regurgitation"/>
      </coding>
    </itemCodeableConcept>
    <itemReference>🔗 
      <reference value="Observation/mii-exa-seltene-symptom-mitral-regurg"/>
    </itemReference>
  </finding>
  <finding>
    <itemCodeableConcept>
      <coding>
        <system value="http://snomed.info/sct"/>
        <code value="248328003"/>
        <display value="Tall stature"/>
      </coding>
    </itemCodeableConcept>
    <itemReference>🔗 
      <reference value="Observation/mii-exa-seltene-observation-height-001"/>
    </itemReference>
  </finding>
  <finding>
    <itemCodeableConcept>
      <coding>
        <system value="http://snomed.info/sct"/>
        <code value="707738004"/>
        <display value="Leg length discrepancy"/>
      </coding>
    </itemCodeableConcept>
    <itemReference>🔗 
      <reference
                 value="Observation/mii-exa-seltene-observation-leg-asymmetry"/>
    </itemReference>
  </finding>
  <prognosisCodeableConcept>
    <coding>
      <system value="http://snomed.info/sct"/>
      <code value="67334001"/>
      <display value="Guarded prognosis"/>
    </coding>
  </prognosisCodeableConcept>
  <note>
    <text
          value="Katarakt in jungem Alter war Anlass für ZSE-Konsultation. Marfan-Syndrom klinisch und genetisch (FBN1-Mutation) bestätigt. OP-Indikation für Aortenwurzelersatz durch Kardiologie gestellt. Medikamentöse Therapie mit Losartan eingeleitet."/>
  </note>
  <note>
    <text
          value="Multidisziplinäre Betreuung im ZSE etabliert. Regelmäßige kardiologische Kontrollen alle 6 Monate. Genetische Beratung für Familienplanung empfohlen."/>
  </note>
</ClinicalImpression>