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"/>
<language value="en"/>
<type value="transaction"/>
<timestamp value="2024-12-15T14:00:00Z"/>
<entry>
<fullUrl value="urn:uuid:546740dd-771d-41e4-a2a5-e8d6a2b5c505"/>
<resource>
<Patient>
<id value="mii-exa-seltene-patient-marfan-001"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Patient_mii-exa-seltene-patient-marfan-001"> </a><p class="res-header-id"><b>Generated Narrative: Patient mii-exa-seltene-patient-marfan-001</b></p><a name="mii-exa-seltene-patient-marfan-001"> </a><a name="hcmii-exa-seltene-patient-marfan-001"> </a><p style="border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;">Anonymous Patient Male, DoB: 2005-01-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#MRF-2024-001)</p><hr/></div>
</text>
<identifier>
<system
value="https://www.medizininformatik-initiative.de/fhir/sid/patient-id"/>
<value value="MRF-2024-001"/>
</identifier>
<gender value="male"/>
<birthDate value="2005-01-01"/>
</Patient>
</resource>
<request>
<method value="POST"/>
<url value="Patient"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:12b18efe-aae8-4039-9e2c-466ee0cb0ce0"/>
<resource>
<Condition>
<id value="mii-exa-seltene-condition-marfan-suspected"/>
<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/><a name="Condition_mii-exa-seltene-condition-marfan-suspected"> </a><p class="res-header-id"><b>Generated Narrative: Condition mii-exa-seltene-condition-marfan-suspected</b></p><a name="mii-exa-seltene-condition-marfan-suspected"> </a><a name="hcmii-exa-seltene-condition-marfan-suspected"> </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>: 2024-12-10</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 Q87.4}, {http://snomed.info/sct 19346006}, {http://www.orpha.net 558}">Verdacht auf Marfan-Syndrom</span></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>recordedDate</b>: 2024-12-10</p><p><b>note</b>: </p><blockquote><div><p>Verdacht auf Marfan-Syndrom aufgrund klinischer Präsentation</p>
</div></blockquote></div>
</text>
<extension
url="http://hl7.org/fhir/StructureDefinition/condition-assertedDate">
<valueDateTime value="2024-12-10"/>
</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="Q87.4"/>
<display value="Marfan-Syndrom"/>
</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="Verdacht auf Marfan-Syndrom"/>
</code>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
</subject>
<recordedDate value="2024-12-10"/>
<note>
<text
value="Verdacht auf Marfan-Syndrom aufgrund klinischer Präsentation"/>
</note>
</Condition>
</resource>
<request>
<method value="POST"/>
<url value="Condition"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:6842a03b-9adc-4cb7-9126-85d317203e7b"/>
<resource>
<Condition>
<id value="mii-exa-seltene-condition-marfan-clinical"/>
<meta>
<profile
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</meta>
<language value="en"/>
<text>
<status value="extensions"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Condition_mii-exa-seltene-condition-marfan-clinical"> </a><p class="res-header-id"><b>Generated Narrative: Condition mii-exa-seltene-condition-marfan-clinical</b></p><a name="mii-exa-seltene-condition-marfan-clinical"> </a><a name="hcmii-exa-seltene-condition-marfan-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="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>: 2024-12-15</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 confirmed}">Confirmed</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://omim.org 154700}, {http://snomed.info/sct 19346006}, {http://www.orpha.net 558}">Marfan-Syndrom</span></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 --> 2024-12-15; reasonCode = Chest pain</a></p><p><b>recordedDate</b>: 2024-12-15</p><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title="Codes:{http://human-phenotype-ontology.org HP:0002616}">Aortic root aneurysm</span></p><p><b>detail</b>: <a href="Observation-mii-exa-seltene-symptom-aortic-root.html">Observation Aortic root aneurysm</a></p></blockquote><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title="Codes:{http://human-phenotype-ontology.org HP:0001659}">Aortic regurgitation</span></p><p><b>detail</b>: <a href="Observation-mii-exa-seltene-symptom-aortic-regurg.html">Observation Aortic regurgitation</a></p></blockquote><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title="Codes:{http://human-phenotype-ontology.org HP:0001653}">Mitral regurgitation</span></p><p><b>detail</b>: <a href="Observation-mii-exa-seltene-symptom-mitral-regurg.html">Observation Mitral regurgitation</a></p></blockquote><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title="Codes:{http://human-phenotype-ontology.org HP:0000098}">Tall stature</span></p><p><b>detail</b>: <a href="Observation-mii-exa-seltene-observation-height-001.html">Observation Body height</a></p></blockquote><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title="Codes:{http://human-phenotype-ontology.org HP:0100559}">Lower limb asymmetry</span></p><p><b>detail</b>: <a href="Observation-mii-exa-seltene-observation-leg-asymmetry.html">Observation Leg length discrepancy</a></p></blockquote><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title="Codes:{http://human-phenotype-ontology.org HP:0100749}">Chest pain</span></p><p><b>detail</b>: <a href="Observation-mii-exa-seltene-symptom-chest-pain.html">Observation Chest pain</a></p></blockquote><p><b>note</b>: </p><blockquote><div><p>Marfan-Syndrom klinisch diagnostiziert basierend auf kardialen Befunden, Skelettmerkmalen und ophthalmologischer Manifestation</p>
</div></blockquote></div>
</text>
<extension
url="http://hl7.org/fhir/StructureDefinition/condition-assertedDate">
<valueDateTime value="2024-12-15"/>
</extension>
<clinicalStatus>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/condition-clinical"/>
<code value="active"/>
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<verificationStatus>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/condition-ver-status"/>
<code value="confirmed"/>
</coding>
</verificationStatus>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/condition-category"/>
<code value="encounter-diagnosis"/>
</coding>
</category>
<code>
<coding>
<system value="http://omim.org"/>
<version value="2024"/>
<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"/>
</code>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
</subject>
<encounter>🔗
<reference value="Encounter/mii-exa-seltene-encounter-cardiology"/>
</encounter>
<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
value="Observation/mii-exa-seltene-symptom-aortic-root"/>
</detail>
</evidence>
<evidence>
<code>
<coding>
<system value="http://human-phenotype-ontology.org"/>
<code value="HP:0001659"/>
<display value="Aortic regurgitation"/>
</coding>
</code>
<detail>🔗
<reference
value="Observation/mii-exa-seltene-symptom-aortic-regurg"/>
</detail>
</evidence>
<evidence>
<code>
<coding>
<system value="http://human-phenotype-ontology.org"/>
<code value="HP:0001653"/>
<display value="Mitral regurgitation"/>
</coding>
</code>
<detail>🔗
<reference
value="Observation/mii-exa-seltene-symptom-mitral-regurg"/>
</detail>
</evidence>
<evidence>
<code>
<coding>
<system value="http://human-phenotype-ontology.org"/>
<code value="HP:0000098"/>
<display value="Tall stature"/>
</coding>
</code>
<detail>🔗
<reference
value="Observation/mii-exa-seltene-observation-height-001"/>
</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
value="Observation/mii-exa-seltene-observation-leg-asymmetry"/>
</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>
</resource>
<request>
<method value="POST"/>
<url value="Condition"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:23bd27f8-f2b5-4bc9-8fa3-078c26bc64a2"/>
<resource>
<Condition>
<id value="mii-exa-seltene-condition-marfan-genetic"/>
<meta>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-genetic-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/><a name="Condition_mii-exa-seltene-condition-marfan-genetic"> </a><p class="res-header-id"><b>Generated Narrative: Condition mii-exa-seltene-condition-marfan-genetic</b></p><a name="mii-exa-seltene-condition-marfan-genetic"> </a><a name="hcmii-exa-seltene-condition-marfan-genetic"> </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-genetic-diagnosis.html">MII PR SE Genetic Diagnosis</a> version: 2027.0.0-ballot</p></div><p><b>Condition Asserted Date</b>: 2024-12-20</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 confirmed}">Confirmed</span></p><p><b>category</b>: <span title="Codes:{http://snomed.info/sct 782964007}">Genetic disease</span></p><p><b>code</b>: <span title="Codes:{http://omim.org 154700}, {http://snomed.info/sct 19346006}, {http://www.orpha.net 558}">Marfan-Syndrom - genetisch bestätigt</span></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>recordedDate</b>: 2024-12-20</p><h3>Evidences</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Code</b></td><td><b>Detail</b></td></tr><tr><td style="display: none">*</td><td><span title="Codes:{http://snomed.info/sct 106221001}">Genetic finding</span></td><td><a href="Observation-mii-exa-seltene-variant-fbn1-001.html">Observation Genetic analysis master panel</a></td></tr></table><p><b>note</b>: </p><blockquote><div><p>FBN1-Mutation c.3217G>A (p.Gly1073Arg) nachgewiesen, krankheitsursächlich. Genetische Diagnose existiert parallel zur klinischen Diagnose.</p>
</div></blockquote></div>
</text>
<extension
url="http://hl7.org/fhir/StructureDefinition/condition-assertedDate">
<valueDateTime value="2024-12-20"/>
</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="confirmed"/>
</coding>
</verificationStatus>
<category>
<coding>
<system value="http://snomed.info/sct"/>
<code value="782964007"/>
<display value="Genetic disease"/>
</coding>
</category>
<code>
<coding>
<system value="http://omim.org"/>
<version value="2024"/>
<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"/>
<display value="Genetic finding"/>
</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>
</Condition>
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<request>
<method value="POST"/>
<url value="Condition"/>
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</entry>
<entry>
<fullUrl value="urn:uuid:f584ef12-6225-4e71-9186-68528f68e07d"/>
<resource>
<Condition>
<id value="mii-exa-seltene-condition-cataract"/>
<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/><a name="Condition_mii-exa-seltene-condition-cataract"> </a><p class="res-header-id"><b>Generated Narrative: Condition mii-exa-seltene-condition-cataract</b></p><a name="mii-exa-seltene-condition-cataract"> </a><a name="hcmii-exa-seltene-condition-cataract"> </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>: 2024-10-15</p><p><b>clinicalStatus</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/condition-clinical resolved}">Resolved</span></p><p><b>verificationStatus</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/condition-ver-status confirmed}">Confirmed</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 H26.9}, {http://snomed.info/sct 193570009}, {http://human-phenotype-ontology.org HP:0000518}">Katarakt bilateral</span></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-ophthalmology.html">Encounter: status = finished; class = ambulatory (ActCode#AMB); type = Ophthalmic examination and evaluation; period = 2024-10-15 --> 2024-10-15</a></p><p><b>abatement</b>: 2024-11-12</p><p><b>recordedDate</b>: 2024-10-15</p><h3>Evidences</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Code</b></td><td><b>Detail</b></td></tr><tr><td style="display: none">*</td><td><span title="Codes:{http://human-phenotype-ontology.org HP:0000518}">Cataract</span></td><td><a href="Observation-mii-exa-seltene-symptom-cataract.html">Observation Cataract</a></td></tr></table><p><b>note</b>: </p><blockquote><div><p>Katarakt bilateral, operativ versorgt</p>
</div></blockquote></div>
</text>
<extension
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<valueDateTime value="2024-10-15"/>
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<clinicalStatus>
<coding>
<system
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<code value="resolved"/>
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<verificationStatus>
<coding>
<system
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<code value="confirmed"/>
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<category>
<coding>
<system
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<code value="encounter-diagnosis"/>
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</category>
<code>
<coding>
<system value="http://fhir.de/CodeSystem/bfarm/icd-10-gm"/>
<version value="2024"/>
<code value="H26.9"/>
<display value="Katarakt, nicht näher bezeichnet"/>
</coding>
<coding>
<system value="http://snomed.info/sct"/>
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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
value="Encounter/mii-exa-seltene-encounter-ophthalmology"/>
</encounter>
<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"/>
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</code>
<detail>🔗
<reference value="Observation/mii-exa-seltene-symptom-cataract"/>
</detail>
</evidence>
<note>
<text value="Katarakt bilateral, operativ versorgt"/>
</note>
</Condition>
</resource>
<request>
<method value="POST"/>
<url value="Condition"/>
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<entry>
<fullUrl value="urn:uuid:72fa4681-014d-4caa-86a3-97cea92766f4"/>
<resource>
<Observation>
<id value="mii-exa-seltene-observation-height-001"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-seltene-observation-height-001"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-seltene-observation-height-001</b></p><a name="mii-exa-seltene-observation-height-001"> </a><a name="hcmii-exa-seltene-observation-height-001"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category vital-signs}">Vital Signs</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 8302-2}">Body height</span></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>effective</b>: 2024-12-15</p><p><b>value</b>: 213 cm<span style="background: LightGoldenRodYellow"> (Details: UCUM codecm = 'cm')</span></p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation H}">High</span></p><p><b>bodySite</b>: <span title="Codes:{http://snomed.info/sct 38266002}">Entire body as a whole</span></p><h3>Components</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style="display: none">*</td><td><span title="Codes:{http://human-phenotype-ontology.org HP:0000098}">Tall stature</span></td><td>Pathologischer Hochwuchs >99. Perzentile</td></tr></table></div>
</text>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="vital-signs"/>
</coding>
</category>
<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"/>
</subject>
<effectiveDateTime value="2024-12-15"/>
<valueQuantity>
<value value="213"/>
<unit value="cm"/>
<system value="http://unitsofmeasure.org"/>
<code value="cm"/>
</valueQuantity>
<interpretation>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
<code value="H"/>
<display value="High"/>
</coding>
</interpretation>
<bodySite>
<coding>
<system value="http://snomed.info/sct"/>
<code value="38266002"/>
<display value="Entire body as a whole"/>
</coding>
</bodySite>
<component>
<code>
<coding>
<system value="http://human-phenotype-ontology.org"/>
<code value="HP:0000098"/>
<display value="Tall stature"/>
</coding>
</code>
<valueString value="Pathologischer Hochwuchs >99. Perzentile"/>
</component>
</Observation>
</resource>
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:9dfa4ddc-723f-4c65-b86d-1a88304e77fe"/>
<resource>
<Observation>
<id value="mii-exa-seltene-observation-leg-asymmetry"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-seltene-observation-leg-asymmetry"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-seltene-observation-leg-asymmetry</b></p><a name="mii-exa-seltene-observation-leg-asymmetry"> </a><a name="hcmii-exa-seltene-observation-leg-asymmetry"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category exam}">Exam</span></p><p><b>code</b>: <span title="Codes:{http://snomed.info/sct 707738004}">Leg length discrepancy</span></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>effective</b>: 2024-12-15</p><p><b>value</b>: <span title="Codes:{http://snomed.info/sct 7771000}">Left</span></p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation A}">Abnormal</span></p><p><b>bodySite</b>: <span title="Codes:{http://snomed.info/sct 30021000}">Lower leg structure</span></p><h3>Components</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style="display: none">*</td><td><span title="Codes:{http://human-phenotype-ontology.org HP:0100559}">Lower limb asymmetry</span></td><td>Rechtes Bein verkürzt</td></tr></table></div>
</text>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="exam"/>
</coding>
</category>
<code>
<coding>
<system value="http://snomed.info/sct"/>
<code value="707738004"/>
<display value="Leg length discrepancy"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-marfan-001"/>
</subject>
<effectiveDateTime value="2024-12-15"/>
<valueCodeableConcept>
<coding>
<system value="http://snomed.info/sct"/>
<code value="7771000"/>
<display value="Left"/>
</coding>
</valueCodeableConcept>
<interpretation>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
<code value="A"/>
<display value="Abnormal"/>
</coding>
</interpretation>
<bodySite>
<coding>
<system value="http://snomed.info/sct"/>
<code value="30021000"/>
<display value="Lower leg structure"/>
</coding>
</bodySite>
<component>
<code>
<coding>
<system value="http://human-phenotype-ontology.org"/>
<code value="HP:0100559"/>
<display value="Lower limb asymmetry"/>
</coding>
</code>
<valueString value="Rechtes Bein verkürzt"/>
</component>
</Observation>
</resource>
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:b5f66545-2f6e-450c-a92e-8e9d2626e003"/>
<resource>
<Observation>
<id value="mii-exa-seltene-symptom-chest-pain"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-seltene-symptom-chest-pain"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-seltene-symptom-chest-pain</b></p><a name="mii-exa-seltene-symptom-chest-pain"> </a><a name="hcmii-exa-seltene-symptom-chest-pain"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category exam}">Exam</span></p><p><b>code</b>: <span title="Codes:{http://human-phenotype-ontology.org HP:0100749}, {http://snomed.info/sct 29857009}">Thoraxschmerzen</span></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>effective</b>: 2024-12-15</p><p><b>value</b>: <span title="Codes:{http://snomed.info/sct 52101004}">Present</span></p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation A}">Abnormal</span></p></div>
</text>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="exam"/>
</coding>
</category>
<code>
<coding>
<system value="http://human-phenotype-ontology.org"/>
<code value="HP:0100749"/>
<display value="Chest pain"/>
</coding>
<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"/>
</subject>
<effectiveDateTime value="2024-12-15"/>
<valueCodeableConcept>
<coding>
<system value="http://snomed.info/sct"/>
<code value="52101004"/>
<display value="Present"/>
</coding>
</valueCodeableConcept>
<interpretation>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
<code value="A"/>
<display value="Abnormal"/>
</coding>
</interpretation>
</Observation>
</resource>
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:ce25223c-45fe-4a87-ba1b-e120cba24e94"/>
<resource>
<Observation>
<id value="mii-exa-seltene-symptom-cataract"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-seltene-symptom-cataract"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-seltene-symptom-cataract</b></p><a name="mii-exa-seltene-symptom-cataract"> </a><a name="hcmii-exa-seltene-symptom-cataract"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category exam}">Exam</span></p><p><b>code</b>: <span title="Codes:{http://human-phenotype-ontology.org HP:0000518}, {http://snomed.info/sct 193570009}">Katarakt bilateral</span></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>effective</b>: 2024-10-15</p><p><b>value</b>: <span title="Codes:{http://snomed.info/sct 51440002}">Bilateral</span></p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation A}">Abnormal</span></p><p><b>bodySite</b>: <span title="Codes:{http://snomed.info/sct 81745001}">Eye structure</span></p></div>
</text>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="exam"/>
</coding>
</category>
<code>
<coding>
<system value="http://human-phenotype-ontology.org"/>
<code value="HP:0000518"/>
<display value="Cataract"/>
</coding>
<coding>
<system value="http://snomed.info/sct"/>
<code value="193570009"/>
<display value="Cataract"/>
</coding>
<text value="Katarakt bilateral"/>
</code>
<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"/>
</coding>
</valueCodeableConcept>
<interpretation>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
<code value="A"/>
<display value="Abnormal"/>
</coding>
</interpretation>
<bodySite>
<coding>
<system value="http://snomed.info/sct"/>
<code value="81745001"/>
<display value="Eye structure"/>
</coding>
</bodySite>
</Observation>
</resource>
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:a482bf38-9c7a-4295-a0f2-a38c1d15aae7"/>
<resource>
<Observation>
<id value="mii-exa-seltene-symptom-aortic-root"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-seltene-symptom-aortic-root"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-seltene-symptom-aortic-root</b></p><a name="mii-exa-seltene-symptom-aortic-root"> </a><a name="hcmii-exa-seltene-symptom-aortic-root"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category imaging}">Imaging</span></p><p><b>code</b>: <span title="Codes:{http://human-phenotype-ontology.org HP:0002616}, {http://snomed.info/sct 251036003}">Aortenwurzeldilatation</span></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>effective</b>: 2024-12-15</p><p><b>value</b>: 48 mm<span style="background: LightGoldenRodYellow"> (Details: UCUM codemm = 'mm')</span></p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation H}">High</span></p><h3>ReferenceRanges</h3><table class="grid"><tr><td style="display: none">-</td><td><b>High</b></td><td><b>Text</b></td></tr><tr><td style="display: none">*</td><td>40 mm</td><td>Normwert <40mm</td></tr></table></div>
</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://human-phenotype-ontology.org"/>
<code value="HP:0002616"/>
<display value="Aortic root aneurysm"/>
</coding>
<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>
<value value="48"/>
<unit value="mm"/>
<system value="http://unitsofmeasure.org"/>
<code value="mm"/>
</valueQuantity>
<interpretation>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
<code value="H"/>
<display value="High"/>
</coding>
</interpretation>
<referenceRange>
<high>
<value value="40"/>
<unit value="mm"/>
</high>
<text value="Normwert <40mm"/>
</referenceRange>
</Observation>
</resource>
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:7b78bb46-817f-4786-84f8-0805b1580192"/>
<resource>
<Observation>
<id value="mii-exa-seltene-symptom-aortic-regurg"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-seltene-symptom-aortic-regurg"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-seltene-symptom-aortic-regurg</b></p><a name="mii-exa-seltene-symptom-aortic-regurg"> </a><a name="hcmii-exa-seltene-symptom-aortic-regurg"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category imaging}">Imaging</span></p><p><b>code</b>: <span title="Codes:{http://human-phenotype-ontology.org HP:0001659}, {http://snomed.info/sct 60234000}">Aortenklappeninsuffizienz</span></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>effective</b>: 2024-12-15</p><p><b>value</b>: <span title="Codes:{http://snomed.info/sct 838545002}">Aortenklappeninsuffizienz Grad II</span></p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation A}">Abnormal</span></p></div>
</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://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"/>
<valueCodeableConcept>
<coding>
<system value="http://snomed.info/sct"/>
<code value="838545002"/>
<display value="Moderate aortic valve regurgitation"/>
</coding>
<text value="Aortenklappeninsuffizienz Grad II"/>
</valueCodeableConcept>
<interpretation>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
<code value="A"/>
<display value="Abnormal"/>
</coding>
</interpretation>
</Observation>
</resource>
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:a933aaca-920c-4d29-be34-1d38c60b8bc9"/>
<resource>
<Observation>
<id value="mii-exa-seltene-symptom-mitral-regurg"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-seltene-symptom-mitral-regurg"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-seltene-symptom-mitral-regurg</b></p><a name="mii-exa-seltene-symptom-mitral-regurg"> </a><a name="hcmii-exa-seltene-symptom-mitral-regurg"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category imaging}">Imaging</span></p><p><b>code</b>: <span title="Codes:{http://human-phenotype-ontology.org HP:0001653}, {http://snomed.info/sct 48724000}">Mitralklappeninsuffizienz</span></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>effective</b>: 2024-12-15</p><p><b>value</b>: <span title="Codes:{http://snomed.info/sct 838451005}">Mitralklappeninsuffizienz Grad I</span></p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation A}">Abnormal</span></p></div>
</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://human-phenotype-ontology.org"/>
<code value="HP:0001653"/>
<display value="Mitral regurgitation"/>
</coding>
<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"/>
</subject>
<effectiveDateTime value="2024-12-15"/>
<valueCodeableConcept>
<coding>
<system value="http://snomed.info/sct"/>
<code value="838451005"/>
<display value="Mild mitral valve regurgitation"/>
</coding>
<text value="Mitralklappeninsuffizienz Grad I"/>
</valueCodeableConcept>
<interpretation>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
<code value="A"/>
<display value="Abnormal"/>
</coding>
</interpretation>
</Observation>
</resource>
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:b769b1ea-3ec2-4b35-86d2-9a0ca128e1e6"/>
<resource>
<Observation>
<id value="mii-exa-seltene-variant-fbn1-001"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-seltene-variant-fbn1-001"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-seltene-variant-fbn1-001</b></p><a name="mii-exa-seltene-variant-fbn1-001"> </a><a name="hcmii-exa-seltene-variant-fbn1-001"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 55233-1}">Genetic analysis master panel</span></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>effective</b>: 2024-12-20</p><p><b>value</b>: <span title="Codes:{http://snomed.info/sct 10828004}">Positive</span></p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation POS}">Positive</span></p><p><b>note</b>: </p><blockquote><div><p>Pathogene FBN1-Mutation, krankheitsursächlich für Marfan-Syndrom</p>
</div></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48018-6}">Gene studied [ID]</span></p><p><b>value</b>: <span title="Codes:{http://www.genenames.org/geneId HGNC:3603}">FBN1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48004-6}">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title="Codes:">c.3217G>A</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48005-3}">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title="Codes:">p.Gly1073Arg</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 53037-8}">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6668-3}">Pathogenic</span></p></blockquote></div>
</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"/>
</coding>
</valueCodeableConcept>
<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"/>
</coding>
</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>
</resource>
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:b4d84fa0-2c48-4613-ba4f-05b75d83c3c9"/>
<resource>
<Observation>
<id value="mii-exa-seltene-observation-echo-aortic"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-seltene-observation-echo-aortic"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-seltene-observation-echo-aortic</b></p><a name="mii-exa-seltene-observation-echo-aortic"> </a><a name="hcmii-exa-seltene-observation-echo-aortic"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category imaging}">Imaging</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 78176-5}">Aorta root Diameter by US 2D</span></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>effective</b>: 2024-12-15</p><p><b>value</b>: 48 mm<span style="background: LightGoldenRodYellow"> (Details: UCUM codemm = 'mm')</span></p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation H}">High</span></p><p><b>method</b>: <span title="Codes:{http://snomed.info/sct 40701008}">Echocardiography</span></p></div>
</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"/>
</valueQuantity>
<interpretation>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
<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"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:796c77be-100b-4935-b738-ef8d6175d668"/>
<resource>
<Observation>
<id value="mii-exa-seltene-observation-echo-av"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-seltene-observation-echo-av"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-seltene-observation-echo-av</b></p><a name="mii-exa-seltene-observation-echo-av"> </a><a name="hcmii-exa-seltene-observation-echo-av"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category imaging}">Imaging</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 18112-3}">Aortic valve Regurgitation degree by US.doppler</span></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>effective</b>: 2024-12-15</p><p><b>value</b>: <span title="Codes:">Grad II</span></p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation A}">Abnormal</span></p><p><b>method</b>: <span title="Codes:{http://snomed.info/sct 40701008}">Echocardiography</span></p></div>
</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="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-seltene-observation-echo-mv"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-seltene-observation-echo-mv</b></p><a name="mii-exa-seltene-observation-echo-mv"> </a><a name="hcmii-exa-seltene-observation-echo-mv"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category imaging}">Imaging</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 18113-1}">Mitral valve Regurgitation degree by US.doppler</span></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>effective</b>: 2024-12-15</p><p><b>value</b>: <span title="Codes:">Grad I</span></p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation A}">Abnormal</span></p><p><b>method</b>: <span title="Codes:{http://snomed.info/sct 40701008}">Echocardiography</span></p></div>
</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="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Procedure_mii-exa-seltene-procedure-cataract-surgery"> </a><p class="res-header-id"><b>Generated Narrative: Procedure mii-exa-seltene-procedure-cataract-surgery</b></p><a name="mii-exa-seltene-procedure-cataract-surgery"> </a><a name="hcmii-exa-seltene-procedure-cataract-surgery"> </a><p><b>status</b>: Completed</p><p><b>category</b>: <span title="Codes:{http://snomed.info/sct 387713003}">Surgical procedure</span></p><p><b>code</b>: <span title="Codes:{http://fhir.de/CodeSystem/bfarm/ops 5-144.5a}, {http://snomed.info/sct 54885007}">Phakoemulsifikation mit IOL-Implantation</span></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>performed</b>: 2024-11-12</p><p><b>reasonReference</b>: <a href="Condition-mii-exa-seltene-condition-cataract.html">Condition Katarakt, nicht näher bezeichnet</a></p><p><b>outcome</b>: <span title="Codes:">Erfolgreiche Linsenimplantation ohne Komplikationen</span></p><p><b>note</b>: </p><blockquote><div><p>Komplikationslose Phakoemulsifikation beider Augen mit Implantation monofokaler Intraokularlinsen</p>
</div></blockquote></div>
</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="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Procedure_mii-exa-seltene-procedure-aortic-planned"> </a><p class="res-header-id"><b>Generated Narrative: Procedure mii-exa-seltene-procedure-aortic-planned</b></p><a name="mii-exa-seltene-procedure-aortic-planned"> </a><a name="hcmii-exa-seltene-procedure-aortic-planned"> </a><p><b>status</b>: Preparation</p><p><b>category</b>: <span title="Codes:{http://snomed.info/sct 387713003}">Surgical procedure</span></p><p><b>code</b>: <span title="Codes:{http://fhir.de/CodeSystem/bfarm/ops 5-354.0a}, {http://snomed.info/sct 428179006}">Aortenwurzelersatz (David-Operation)</span></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>performed</b>: 2025-03-15 --> (ongoing)</p><p><b>reasonReference</b>: <a href="Condition-mii-exa-seltene-condition-marfan-clinical.html">Condition Marfan syndrome</a></p><p><b>note</b>: </p><blockquote><div><p>Geplante klappensparende Aortenwurzelersatz-Operation nach David bei progredienter Aortenwurzeldilatation</p>
</div></blockquote></div>
</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="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="MedicationStatement_mii-exa-seltene-medication-losartan"> </a><p class="res-header-id"><b>Generated Narrative: MedicationStatement mii-exa-seltene-medication-losartan</b></p><a name="mii-exa-seltene-medication-losartan"> </a><a name="hcmii-exa-seltene-medication-losartan"> </a><p><b>status</b>: Active</p><p><b>medication</b>: <span title="Codes:{http://fhir.de/CodeSystem/bfarm/atc C09CA01}, {http://snomed.info/sct 373567002}">Losartan 50mg</span></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>effective</b>: 2024-12-15</p><p><b>reasonReference</b>: <a href="Condition-mii-exa-seltene-condition-marfan-clinical.html">Condition Marfan syndrome</a></p><p><b>note</b>: </p><blockquote><div><p>Zur Progressionshemmung der Aortenwurzeldilatation bei Marfan-Syndrom</p>
</div></blockquote><blockquote><p><b>dosage</b></p><p><b>text</b>: 50mg einmal täglich</p><p><b>timing</b>: Once per 1 day</p><p><b>route</b>: <span title="Codes:{http://snomed.info/sct 26643006}">Oral route</span></p><h3>DoseAndRates</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Dose[x]</b></td></tr><tr><td style="display: none">*</td><td>50 mg<span style="background: LightGoldenRodYellow"> (Details: UCUM codemg = 'mg')</span></td></tr></table></blockquote></div>
</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="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="ClinicalImpression_mii-exa-seltene-clinical-impression-seltene-assessment"> </a><p class="res-header-id"><b>Generated Narrative: ClinicalImpression mii-exa-seltene-clinical-impression-seltene-assessment</b></p><a name="mii-exa-seltene-clinical-impression-seltene-assessment"> </a><a name="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 --> 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>
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<request>
<method value="POST"/>
<url value="ClinicalImpression"/>
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</entry>
<entry>
<fullUrl value="urn:uuid:258f0a21-4c6e-473d-87e9-36a5bf01bb1a"/>
<resource>
<Encounter>
<id value="mii-exa-seltene-encounter-ophthalmology"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Encounter_mii-exa-seltene-encounter-ophthalmology"> </a><p class="res-header-id"><b>Generated Narrative: Encounter mii-exa-seltene-encounter-ophthalmology</b></p><a name="mii-exa-seltene-encounter-ophthalmology"> </a><a name="hcmii-exa-seltene-encounter-ophthalmology"> </a><p><b>status</b>: Finished</p><p><b>class</b>: <a href="http://terminology.hl7.org/7.3.0/CodeSystem-v3-ActCode.html#v3-ActCode-AMB">ActCode: AMB</a> (ambulatory)</p><p><b>type</b>: <span title="Codes:{http://snomed.info/sct 36228007}">Ophthalmic examination and evaluation</span></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>period</b>: 2024-10-15 --> 2024-10-15</p><h3>Diagnoses</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Condition</b></td><td><b>Use</b></td></tr><tr><td style="display: none">*</td><td><a href="Condition-mii-exa-seltene-condition-cataract.html">Condition Katarakt, nicht näher bezeichnet</a></td><td><span title="Codes:{http://terminology.hl7.org/CodeSystem/diagnosis-role AD}">Admission diagnosis</span></td></tr></table></div>
</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="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Encounter_mii-exa-seltene-encounter-cataract-surgery"> </a><p class="res-header-id"><b>Generated Narrative: Encounter mii-exa-seltene-encounter-cataract-surgery</b></p><a name="mii-exa-seltene-encounter-cataract-surgery"> </a><a name="hcmii-exa-seltene-encounter-cataract-surgery"> </a><p><b>status</b>: Finished</p><p><b>class</b>: <a href="http://terminology.hl7.org/7.3.0/CodeSystem-v3-ActCode.html#v3-ActCode-SS">ActCode: SS</a> (short stay)</p><p><b>type</b>: <span title="Codes:{http://snomed.info/sct 305408004}">Admission to surgical department</span></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>period</b>: 2024-11-12 07:00:00+0000 --> 2024-11-12 15:00:00+0000</p><h3>Diagnoses</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Condition</b></td><td><b>Use</b></td></tr><tr><td style="display: none">*</td><td><a href="Condition-mii-exa-seltene-condition-cataract.html">Condition Katarakt, nicht näher bezeichnet</a></td><td><span title="Codes:{http://terminology.hl7.org/CodeSystem/diagnosis-role CC}">Chief complaint</span></td></tr></table></div>
</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="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Encounter_mii-exa-seltene-encounter-cardiology"> </a><p class="res-header-id"><b>Generated Narrative: Encounter mii-exa-seltene-encounter-cardiology</b></p><a name="mii-exa-seltene-encounter-cardiology"> </a><a name="hcmii-exa-seltene-encounter-cardiology"> </a><p><b>status</b>: Finished</p><p><b>class</b>: <a href="http://terminology.hl7.org/7.3.0/CodeSystem-v3-ActCode.html#v3-ActCode-AMB">ActCode: AMB</a> (ambulatory)</p><p><b>type</b>: <span title="Codes:{http://snomed.info/sct 185228002}">Seen in cardiac clinic (finding)</span></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>period</b>: 2024-12-15 --> 2024-12-15</p><p><b>reasonCode</b>: <span title="Codes:{http://snomed.info/sct 29857009}">Thoraxschmerzen bei V.a. Marfan-Syndrom</span></p><h3>Diagnoses</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Condition</b></td><td><b>Use</b></td></tr><tr><td style="display: none">*</td><td><a href="Condition-mii-exa-seltene-condition-marfan-clinical.html">Condition Marfan syndrome</a></td><td><span title="Codes:{http://terminology.hl7.org/CodeSystem/diagnosis-role AD}">Admission diagnosis</span></td></tr></table></div>
</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>
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<request>
<method value="POST"/>
<url value="Encounter"/>
</request>
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<entry>
<fullUrl value="urn:uuid:1ec76c96-9e7d-403a-9ea5-1f2eaea6ef28"/>
<resource>
<Encounter>
<id value="mii-exa-seltene-encounter-surgery-planned"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Encounter_mii-exa-seltene-encounter-surgery-planned"> </a><p class="res-header-id"><b>Generated Narrative: Encounter mii-exa-seltene-encounter-surgery-planned</b></p><a name="mii-exa-seltene-encounter-surgery-planned"> </a><a name="hcmii-exa-seltene-encounter-surgery-planned"> </a><p><b>status</b>: Planned</p><p><b>class</b>: <a href="http://terminology.hl7.org/7.3.0/CodeSystem-v3-ActCode.html#v3-ActCode-IMP">ActCode: IMP</a> (inpatient encounter)</p><p><b>type</b>: <span title="Codes:{http://snomed.info/sct 305357000}">Admission to cardiology department</span></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>period</b>: 2025-03-15 --> (ongoing)</p><p><b>reasonCode</b>: <span title="Codes:">Elektive Aortenwurzelersatz-Operation bei Marfan-Syndrom</span></p><h3>Diagnoses</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Condition</b></td><td><b>Use</b></td></tr><tr><td style="display: none">*</td><td><a href="Condition-mii-exa-seltene-condition-marfan-clinical.html">Condition Marfan syndrome</a></td><td><span title="Codes:{http://terminology.hl7.org/CodeSystem/diagnosis-role CC}">Chief complaint</span></td></tr></table></div>
</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>
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<request>
<method value="POST"/>
<url value="Encounter"/>
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