MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot -
Germany
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
<Bundle xmlns="http://hl7.org/fhir">
<id value="mii-exa-seltene-bundle-marfan-complete"/>
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<timestamp value="2024-12-15T14:00:00Z"/>
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<coding>
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<code value="Q87.4"/>
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</coding>
<coding>
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<display value="Marfan syndrome"/>
</coding>
<coding>
<system value="http://www.orpha.net"/>
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</coding>
<text value="Verdacht auf Marfan-Syndrom"/>
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<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
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<recordedDate value="2024-12-10"/>
<note>
<text
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<category>
<coding>
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<code>
<coding>
<system value="http://omim.org"/>
<version value="2024"/>
<code value="154700"/>
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<coding>
<system value="http://snomed.info/sct"/>
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<coding>
<system value="http://www.orpha.net"/>
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<display value="Marfan syndrome"/>
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<text value="Marfan-Syndrom"/>
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<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
</subject>
<encounter>🔗
<reference value="Encounter/mii-exa-seltene-encounter-cardiology"/>
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<recordedDate value="2024-12-15"/>
<evidence>
<code>
<coding>
<system value="http://human-phenotype-ontology.org"/>
<code value="HP:0002616"/>
<display value="Aortic root aneurysm"/>
</coding>
</code>
<detail>🔗
<reference
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</evidence>
<evidence>
<code>
<coding>
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<code value="HP:0001659"/>
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</coding>
</code>
<detail>🔗
<reference
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</detail>
</evidence>
<evidence>
<code>
<coding>
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<display value="Mitral regurgitation"/>
</coding>
</code>
<detail>🔗
<reference
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</detail>
</evidence>
<evidence>
<code>
<coding>
<system value="http://human-phenotype-ontology.org"/>
<code value="HP:0000098"/>
<display value="Tall stature"/>
</coding>
</code>
<detail>🔗
<reference
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</detail>
</evidence>
<evidence>
<code>
<coding>
<system value="http://human-phenotype-ontology.org"/>
<code value="HP:0100559"/>
<display value="Lower limb asymmetry"/>
</coding>
</code>
<detail>🔗
<reference
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</detail>
</evidence>
<evidence>
<code>
<coding>
<system value="http://human-phenotype-ontology.org"/>
<code value="HP:0100749"/>
<display value="Chest pain"/>
</coding>
</code>
<detail>🔗
<reference
value="Observation/mii-exa-seltene-symptom-chest-pain"/>
</detail>
</evidence>
<note>
<text
value="Marfan-Syndrom klinisch diagnostiziert basierend auf kardialen Befunden, Skelettmerkmalen und ophthalmologischer Manifestation"/>
</note>
</Condition>
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<request>
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<entry>
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<Condition>
<id value="mii-exa-seltene-condition-marfan-genetic"/>
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<profile
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<language value="de"/>
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<status value="extensions"/>
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<coding>
<system
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<category>
<coding>
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<code value="782964007"/>
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</category>
<code>
<coding>
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<code value="154700"/>
<display value="Marfan syndrome"/>
</coding>
<coding>
<system value="http://snomed.info/sct"/>
<code value="19346006"/>
<display value="Marfan syndrome"/>
</coding>
<coding>
<system value="http://www.orpha.net"/>
<code value="558"/>
<display value="Marfan syndrome"/>
</coding>
<text value="Marfan-Syndrom - genetisch bestätigt"/>
</code>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
</subject>
<recordedDate value="2024-12-20"/>
<evidence>
<code>
<coding>
<system value="http://snomed.info/sct"/>
<code value="106221001"/>
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</coding>
</code>
<detail>🔗
<reference value="Observation/mii-exa-seltene-variant-fbn1-001"/>
</detail>
</evidence>
<note>
<text
value="FBN1-Mutation c.3217G>A (p.Gly1073Arg) nachgewiesen, krankheitsursächlich. Genetische Diagnose existiert parallel zur klinischen Diagnose."/>
</note>
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<Condition>
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<language value="de"/>
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<system value="http://fhir.de/CodeSystem/bfarm/icd-10-gm"/>
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<code value="H26.9"/>
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<coding>
<system value="http://snomed.info/sct"/>
<code value="193570009"/>
<display value="Cataract"/>
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<coding>
<system value="http://human-phenotype-ontology.org"/>
<code value="HP:0000518"/>
<display value="Cataract"/>
</coding>
<text value="Katarakt bilateral"/>
</code>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
</subject>
<encounter>🔗
<reference
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<abatementDateTime value="2024-11-12"/>
<recordedDate value="2024-10-15"/>
<evidence>
<code>
<coding>
<system value="http://human-phenotype-ontology.org"/>
<code value="HP:0000518"/>
<display value="Cataract"/>
</coding>
</code>
<detail>🔗
<reference value="Observation/mii-exa-seltene-symptom-cataract"/>
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</evidence>
<note>
<text value="Katarakt bilateral, operativ versorgt"/>
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<language value="de"/>
<text>
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<status value="final"/>
<category>
<coding>
<system
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<code value="vital-signs"/>
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<code>
<coding>
<system value="http://loinc.org"/>
<code value="8302-2"/>
<display value="Body height"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
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<effectiveDateTime value="2024-12-15"/>
<valueQuantity>
<value value="213"/>
<unit value="cm"/>
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<code value="H"/>
<display value="High"/>
</coding>
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<bodySite>
<coding>
<system value="http://snomed.info/sct"/>
<code value="38266002"/>
<display value="Entire body as a whole"/>
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</bodySite>
<component>
<code>
<coding>
<system value="http://human-phenotype-ontology.org"/>
<code value="HP:0000098"/>
<display value="Tall stature"/>
</coding>
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<valueString value="Pathologischer Hochwuchs >99. Perzentile"/>
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<entry>
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<language value="de"/>
<text>
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<status value="final"/>
<category>
<coding>
<system
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<code value="exam"/>
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<code>
<coding>
<system value="http://snomed.info/sct"/>
<code value="707738004"/>
<display value="Leg length discrepancy"/>
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<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
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<effectiveDateTime value="2024-12-15"/>
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<valueString value="Rechtes Bein verkürzt"/>
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<language value="de"/>
<text>
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<category>
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<code>
<coding>
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<code value="HP:0100749"/>
<display value="Chest pain"/>
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<coding>
<system value="http://snomed.info/sct"/>
<code value="29857009"/>
<display value="Chest pain"/>
</coding>
<text value="Thoraxschmerzen"/>
</code>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
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<effectiveDateTime value="2024-12-15"/>
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<language value="de"/>
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<coding>
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<code value="HP:0000518"/>
<display value="Cataract"/>
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<coding>
<system value="http://snomed.info/sct"/>
<code value="193570009"/>
<display value="Cataract"/>
</coding>
<text value="Katarakt bilateral"/>
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<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
</subject>
<effectiveDateTime value="2024-10-15"/>
<valueCodeableConcept>
<coding>
<system value="http://snomed.info/sct"/>
<code value="51440002"/>
<display value="Bilateral"/>
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<bodySite>
<coding>
<system value="http://snomed.info/sct"/>
<code value="81745001"/>
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<entry>
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<Observation>
<id value="mii-exa-seltene-symptom-aortic-root"/>
<language value="de"/>
<text>
<status value="generated"/>
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<status value="final"/>
<category>
<coding>
<system
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<code value="imaging"/>
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<code>
<coding>
<system value="http://human-phenotype-ontology.org"/>
<code value="HP:0002616"/>
<display value="Aortic root aneurysm"/>
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<coding>
<system value="http://snomed.info/sct"/>
<code value="251036003"/>
<display value="Aortic root dilatation"/>
</coding>
<text value="Aortenwurzeldilatation"/>
</code>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
</subject>
<effectiveDateTime value="2024-12-15"/>
<valueQuantity>
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<unit value="mm"/>
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<referenceRange>
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<value value="40"/>
<unit value="mm"/>
</high>
<text value="Normwert <40mm"/>
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<Observation>
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<language value="de"/>
<text>
<status value="generated"/>
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<status value="final"/>
<category>
<coding>
<system
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<code value="imaging"/>
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<code>
<coding>
<system value="http://human-phenotype-ontology.org"/>
<code value="HP:0001659"/>
<display value="Aortic regurgitation"/>
</coding>
<coding>
<system value="http://snomed.info/sct"/>
<code value="60234000"/>
<display value="Aortic valve regurgitation"/>
</coding>
<text value="Aortenklappeninsuffizienz"/>
</code>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
</subject>
<effectiveDateTime value="2024-12-15"/>
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<coding>
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<code value="838545002"/>
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<text value="Aortenklappeninsuffizienz Grad II"/>
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<coding>
<system
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<category>
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<code>
<coding>
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<code value="HP:0001653"/>
<display value="Mitral regurgitation"/>
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<coding>
<system value="http://snomed.info/sct"/>
<code value="48724000"/>
<display value="Mitral valve regurgitation"/>
</coding>
<text value="Mitralklappeninsuffizienz"/>
</code>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
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<effectiveDateTime value="2024-12-15"/>
<valueCodeableConcept>
<coding>
<system value="http://snomed.info/sct"/>
<code value="838451005"/>
<display value="Mild mitral valve regurgitation"/>
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<text value="Mitralklappeninsuffizienz Grad I"/>
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<coding>
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<Observation>
<id value="mii-exa-seltene-variant-fbn1-001"/>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="laboratory"/>
</coding>
</category>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="55233-1"/>
<display value="Genetic analysis master panel"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
</subject>
<effectiveDateTime value="2024-12-20"/>
<valueCodeableConcept>
<coding>
<system value="http://snomed.info/sct"/>
<code value="10828004"/>
<display value="Positive"/>
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<interpretation>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
<code value="POS"/>
<display value="Positive"/>
</coding>
</interpretation>
<note>
<text
value="Pathogene FBN1-Mutation, krankheitsursächlich für Marfan-Syndrom"/>
</note>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48018-6"/>
<display value="Gene studied [ID]"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://www.genenames.org/geneId"/>
<code value="HGNC:3603"/>
<display value="FBN1"/>
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</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48004-6"/>
<display value="DNA change (c.HGVS)"/>
</coding>
</code>
<valueCodeableConcept>
<text value="c.3217G>A"/>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48005-3"/>
<display value="Amino acid change (pHGVS)"/>
</coding>
</code>
<valueCodeableConcept>
<text value="p.Gly1073Arg"/>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="53037-8"/>
<display value="Genetic variation clinical significance [Imp]"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://loinc.org"/>
<code value="LA6668-3"/>
<display value="Pathogenic"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>
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<method value="POST"/>
<url value="Observation"/>
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<entry>
<fullUrl value="urn:uuid:b4d84fa0-2c48-4613-ba4f-05b75d83c3c9"/>
<resource>
<Observation>
<id value="mii-exa-seltene-observation-echo-aortic"/>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="imaging"/>
</coding>
</category>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="78176-5"/>
<display value="Aorta root Diameter by US 2D"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
</subject>
<effectiveDateTime value="2024-12-15"/>
<valueQuantity>
<value value="48"/>
<unit value="mm"/>
<system value="http://unitsofmeasure.org"/>
<code value="mm"/>
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<interpretation>
<coding>
<system
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<code value="H"/>
<display value="High"/>
</coding>
</interpretation>
<method>
<coding>
<system value="http://snomed.info/sct"/>
<code value="40701008"/>
<display value="Echocardiography"/>
</coding>
</method>
</Observation>
</resource>
<request>
<method value="POST"/>
<url value="Observation"/>
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</entry>
<entry>
<fullUrl value="urn:uuid:796c77be-100b-4935-b738-ef8d6175d668"/>
<resource>
<Observation>
<id value="mii-exa-seltene-observation-echo-av"/>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="imaging"/>
</coding>
</category>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="18112-3"/>
<display value="Aortic valve Regurgitation degree by US.doppler"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
</subject>
<effectiveDateTime value="2024-12-15"/>
<valueCodeableConcept>
<text value="Grad II"/>
</valueCodeableConcept>
<interpretation>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
<code value="A"/>
<display value="Abnormal"/>
</coding>
</interpretation>
<method>
<coding>
<system value="http://snomed.info/sct"/>
<code value="40701008"/>
<display value="Echocardiography"/>
</coding>
</method>
</Observation>
</resource>
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:c9a2b002-1177-4c4e-82c0-a8d32983da28"/>
<resource>
<Observation>
<id value="mii-exa-seltene-observation-echo-mv"/>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="imaging"/>
</coding>
</category>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="18113-1"/>
<display value="Mitral valve Regurgitation degree by US.doppler"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
</subject>
<effectiveDateTime value="2024-12-15"/>
<valueCodeableConcept>
<text value="Grad I"/>
</valueCodeableConcept>
<interpretation>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
<code value="A"/>
<display value="Abnormal"/>
</coding>
</interpretation>
<method>
<coding>
<system value="http://snomed.info/sct"/>
<code value="40701008"/>
<display value="Echocardiography"/>
</coding>
</method>
</Observation>
</resource>
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:7aa4841a-ee1c-462f-86c7-00a2705d42f4"/>
<resource>
<Procedure>
<id value="mii-exa-seltene-procedure-cataract-surgery"/>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="completed"/>
<category>
<coding>
<system value="http://snomed.info/sct"/>
<code value="387713003"/>
<display value="Surgical procedure"/>
</coding>
</category>
<code>
<coding>
<system value="http://fhir.de/CodeSystem/bfarm/ops"/>
<code value="5-144.5a"/>
<display
value="Extrakapsuläre Extraktion der Linse [ECCE]: Linsenkernverflüssigung [Phakoemulsifikation] über kornealen Zugang: Mit Einführung einer kapselfixierten Hinterkammerlinse, monofokale Intraokularlinse"/>
</coding>
<coding>
<system value="http://snomed.info/sct"/>
<code value="54885007"/>
<display value="Extraction of cataract"/>
</coding>
<text value="Phakoemulsifikation mit IOL-Implantation"/>
</code>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
</subject>
<performedDateTime value="2024-11-12"/>
<reasonReference>🔗
<reference value="Condition/mii-exa-seltene-condition-cataract"/>
</reasonReference>
<outcome>
<text value="Erfolgreiche Linsenimplantation ohne Komplikationen"/>
</outcome>
<note>
<text
value="Komplikationslose Phakoemulsifikation beider Augen mit Implantation monofokaler Intraokularlinsen"/>
</note>
</Procedure>
</resource>
<request>
<method value="POST"/>
<url value="Procedure"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:853a938b-bc21-4757-98cc-c33554ea26af"/>
<resource>
<Procedure>
<id value="mii-exa-seltene-procedure-aortic-planned"/>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="preparation"/>
<category>
<coding>
<system value="http://snomed.info/sct"/>
<code value="387713003"/>
<display value="Surgical procedure"/>
</coding>
</category>
<code>
<coding>
<system value="http://fhir.de/CodeSystem/bfarm/ops"/>
<code value="5-354.0a"/>
<display
value="Andere Operationen an Herzklappen: Aortenklappe: Rekonstruktion der Aortenwurzel mit Implantation einer Gefäßprothese nach David"/>
</coding>
<coding>
<system value="http://snomed.info/sct"/>
<code value="428179006"/>
<display value="Replacement of aortic root"/>
</coding>
<text value="Aortenwurzelersatz (David-Operation)"/>
</code>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
</subject>
<performedPeriod>
<start value="2025-03-15"/>
</performedPeriod>
<reasonReference>🔗
<reference
value="Condition/mii-exa-seltene-condition-marfan-clinical"/>
</reasonReference>
<note>
<text
value="Geplante klappensparende Aortenwurzelersatz-Operation nach David bei progredienter Aortenwurzeldilatation"/>
</note>
</Procedure>
</resource>
<request>
<method value="POST"/>
<url value="Procedure"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:8fb04be6-9930-4aec-8a5f-4ef9b904ae51"/>
<resource>
<MedicationStatement>
<id value="mii-exa-seltene-medication-losartan"/>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="active"/>
<medicationCodeableConcept>
<coding>
<system value="http://fhir.de/CodeSystem/bfarm/atc"/>
<code value="C09CA01"/>
<display value="Losartan"/>
</coding>
<coding>
<system value="http://snomed.info/sct"/>
<code value="373567002"/>
<display value="Losartan"/>
</coding>
<text value="Losartan 50mg"/>
</medicationCodeableConcept>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
</subject>
<effectiveDateTime value="2024-12-15"/>
<reasonReference>🔗
<reference
value="Condition/mii-exa-seltene-condition-marfan-clinical"/>
</reasonReference>
<note>
<text
value="Zur Progressionshemmung der Aortenwurzeldilatation bei Marfan-Syndrom"/>
</note>
<dosage>
<text value="50mg einmal täglich"/>
<timing>
<repeat>
<frequency value="1"/>
<period value="1"/>
<periodUnit value="d"/>
</repeat>
</timing>
<route>
<coding>
<system value="http://snomed.info/sct"/>
<code value="26643006"/>
<display value="Oral route"/>
</coding>
</route>
<doseAndRate>
<doseQuantity>
<value value="50"/>
<unit value="mg"/>
<system value="http://unitsofmeasure.org"/>
<code value="mg"/>
</doseQuantity>
</doseAndRate>
</dosage>
</MedicationStatement>
</resource>
<request>
<method value="POST"/>
<url value="MedicationStatement"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:35d41288-207b-4be7-967a-d92e295d1c75"/>
<resource>
<ClinicalImpression>
<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"/>
</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>
</resource>
<request>
<method value="POST"/>
<url value="ClinicalImpression"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:258f0a21-4c6e-473d-87e9-36a5bf01bb1a"/>
<resource>
<Encounter>
<id value="mii-exa-seltene-encounter-ophthalmology"/>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="finished"/>
<class>
<system value="http://terminology.hl7.org/CodeSystem/v3-ActCode"/>
<code value="AMB"/>
<display value="ambulatory"/>
</class>
<type>
<coding>
<system value="http://snomed.info/sct"/>
<code value="36228007"/>
<display value="Ophthalmic examination and evaluation"/>
</coding>
</type>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
</subject>
<period>
<start value="2024-10-15"/>
<end value="2024-10-15"/>
</period>
<diagnosis>
<condition>🔗
<reference value="Condition/mii-exa-seltene-condition-cataract"/>
</condition>
<use>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/diagnosis-role"/>
<code value="AD"/>
<display value="Admission diagnosis"/>
</coding>
</use>
</diagnosis>
</Encounter>
</resource>
<request>
<method value="POST"/>
<url value="Encounter"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:70504d04-a6f0-4aa8-bd20-9b475b94438c"/>
<resource>
<Encounter>
<id value="mii-exa-seltene-encounter-cataract-surgery"/>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="finished"/>
<class>
<system value="http://terminology.hl7.org/CodeSystem/v3-ActCode"/>
<code value="SS"/>
<display value="short stay"/>
</class>
<type>
<coding>
<system value="http://snomed.info/sct"/>
<code value="305408004"/>
<display value="Admission to surgical department"/>
</coding>
</type>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
</subject>
<period>
<start value="2024-11-12T07:00:00Z"/>
<end value="2024-11-12T15:00:00Z"/>
</period>
<diagnosis>
<condition>🔗
<reference value="Condition/mii-exa-seltene-condition-cataract"/>
</condition>
<use>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/diagnosis-role"/>
<code value="CC"/>
<display value="Chief complaint"/>
</coding>
</use>
</diagnosis>
</Encounter>
</resource>
<request>
<method value="POST"/>
<url value="Encounter"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:c90d7e24-a787-4d1b-b402-36b64362cc13"/>
<resource>
<Encounter>
<id value="mii-exa-seltene-encounter-cardiology"/>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="finished"/>
<class>
<system value="http://terminology.hl7.org/CodeSystem/v3-ActCode"/>
<code value="AMB"/>
<display value="ambulatory"/>
</class>
<type>
<coding>
<system value="http://snomed.info/sct"/>
<code value="185228002"/>
<display value="Seen in cardiac clinic (finding)"/>
</coding>
</type>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
</subject>
<period>
<start value="2024-12-15"/>
<end value="2024-12-15"/>
</period>
<reasonCode>
<coding>
<system value="http://snomed.info/sct"/>
<code value="29857009"/>
<display value="Chest pain"/>
</coding>
<text value="Thoraxschmerzen bei V.a. Marfan-Syndrom"/>
</reasonCode>
<diagnosis>
<condition>🔗
<reference
value="Condition/mii-exa-seltene-condition-marfan-clinical"/>
</condition>
<use>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/diagnosis-role"/>
<code value="AD"/>
<display value="Admission diagnosis"/>
</coding>
</use>
</diagnosis>
</Encounter>
</resource>
<request>
<method value="POST"/>
<url value="Encounter"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:1ec76c96-9e7d-403a-9ea5-1f2eaea6ef28"/>
<resource>
<Encounter>
<id value="mii-exa-seltene-encounter-surgery-planned"/>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="planned"/>
<class>
<system value="http://terminology.hl7.org/CodeSystem/v3-ActCode"/>
<code value="IMP"/>
<display value="inpatient encounter"/>
</class>
<type>
<coding>
<system value="http://snomed.info/sct"/>
<code value="305357000"/>
<display value="Admission to cardiology department"/>
</coding>
</type>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
</subject>
<period>
<start value="2025-03-15"/>
</period>
<reasonCode>
<text
value="Elektive Aortenwurzelersatz-Operation bei Marfan-Syndrom"/>
</reasonCode>
<diagnosis>
<condition>🔗
<reference
value="Condition/mii-exa-seltene-condition-marfan-clinical"/>
</condition>
<use>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/diagnosis-role"/>
<code value="CC"/>
<display value="Chief complaint"/>
</coding>
</use>
</diagnosis>
</Encounter>
</resource>
<request>
<method value="POST"/>
<url value="Encounter"/>
</request>
</entry>
</Bundle>