MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot -
Germany
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
<ClinicalImpression xmlns="http://hl7.org/fhir">
<id value="mii-exa-seltene-clinical-impression-erstvorstellung"/>
<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="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: ClinicalImpression mii-exa-seltene-clinical-impression-erstvorstellung</b></p><a name="mii-exa-seltene-clinical-impression-erstvorstellung"> </a><a name="hcmii-exa-seltene-clinical-impression-erstvorstellung"> </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-sma-001.html">Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)</a></p><p><b>encounter</b>: <a href="Encounter-mii-exa-seltene-encounter-ambulant-001.html">Encounter: status = finished; class = ambulatory (ActCode#AMB); type = Follow-up encounter; period = 2024-07-22 --> 2024-07-22</a></p><p><b>effective</b>: 2024-07-22</p><p><b>date</b>: 2024-07-22</p><p><b>problem</b>: <a href="Condition-mii-exa-seltene-condition-sma-suspected.html">Condition Werdnig-Hoffmann disease</a></p><blockquote><p><b>investigation</b></p><p><b>code</b>: <span title="Codes:">Familienanamnese</span></p><p><b>item</b>: <a href="FamilyMemberHistory-mii-exa-seltene-family-history-001.html">FamilyMemberHistory: extension = Unknown; status = completed; date = 2024-07-22; relationship = Great grandmother</a></p></blockquote><blockquote><p><b>investigation</b></p><p><b>code</b>: <span title="Codes:">Labordiagnostik</span></p><p><b>item</b>: <a href="Observation-mii-exa-seltene-observation-troponin-001.html">Observation Troponin T.cardiac [Mass/volume] in Serum or Plasma</a></p></blockquote><p><b>summary</b>: Neugeborenes mit V.a. SMA aus Neugeborenenscreening. Familienanamnese zeigt unklare Muskelerkrankung der Urgroßmutter. Troponin T bereits erhöht (92 ng/l).</p><blockquote><p><b>finding</b></p><p><b>itemReference</b>: <a href="Condition-mii-exa-seltene-condition-sma-clinical.html">Condition Infantile spinale Muskelatrophie, Typ I [Typ Werdnig-Hoffmann]</a></p></blockquote><blockquote><p><b>finding</b></p><p><b>itemReference</b>: <a href="Condition-mii-exa-seltene-condition-sma-genetic.html">Condition Spinal muscular atrophy, type I</a></p></blockquote><blockquote><p><b>finding</b></p><p><b>itemCodeableConcept</b>: <span title="Codes:{http://snomed.info/sct 1363512008}">Troponin above reference range</span></p><p><b>itemReference</b>: <a href="Observation-mii-exa-seltene-observation-troponin-001.html">Observation Troponin T.cardiac [Mass/volume] in Serum or Plasma</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>Klinische Untersuchung gemäß SMA-Diagnoseprotokoll. Blutentnahme für Genetik veranlasst.</p>
</div></blockquote><blockquote><div><p>Klinisches Bild vereinbar mit SMA Typ 1. Molekulargenetische Bestätigung ausstehend. Eltern über Therapieoptionen informiert.</p>
</div></blockquote></div>
</text>
<status value="completed"/>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-sma-001"/>
</subject>
<encounter>🔗
<reference value="Encounter/mii-exa-seltene-encounter-ambulant-001"/>
</encounter>
<effectiveDateTime value="2024-07-22"/>
<date value="2024-07-22"/>
<problem>🔗
<reference value="Condition/mii-exa-seltene-condition-sma-suspected"/>
</problem>
<investigation>
<code>
<text value="Familienanamnese"/>
</code>
<item>🔗
<reference
value="FamilyMemberHistory/mii-exa-seltene-family-history-001"/>
</item>
</investigation>
<investigation>
<code>
<text value="Labordiagnostik"/>
</code>
<item>🔗
<reference
value="Observation/mii-exa-seltene-observation-troponin-001"/>
</item>
</investigation>
<summary
value="Neugeborenes mit V.a. SMA aus Neugeborenenscreening. Familienanamnese zeigt unklare Muskelerkrankung der Urgroßmutter. Troponin T bereits erhöht (92 ng/l)."/>
<finding>
<itemReference>🔗
<reference value="Condition/mii-exa-seltene-condition-sma-clinical"/>
</itemReference>
</finding>
<finding>
<itemReference>🔗
<reference value="Condition/mii-exa-seltene-condition-sma-genetic"/>
</itemReference>
</finding>
<finding>
<itemCodeableConcept>
<coding>
<system value="http://snomed.info/sct"/>
<code value="1363512008"/>
<display value="Troponin above reference range"/>
</coding>
</itemCodeableConcept>
<itemReference>🔗
<reference
value="Observation/mii-exa-seltene-observation-troponin-001"/>
</itemReference>
</finding>
<prognosisCodeableConcept>
<coding>
<system value="http://snomed.info/sct"/>
<code value="67334001"/>
<display value="Guarded prognosis"/>
</coding>
</prognosisCodeableConcept>
<note>
<text
value="Klinische Untersuchung gemäß SMA-Diagnoseprotokoll. Blutentnahme für Genetik veranlasst."/>
</note>
<note>
<text
value="Klinisches Bild vereinbar mit SMA Typ 1. Molekulargenetische Bestätigung ausstehend. Eltern über Therapieoptionen informiert."/>
</note>
</ClinicalImpression>