MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot -
Germany
MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot -
Germany
This page is part of the MII Implementation Guide Seltene Erkrankungen (v2027.0.0-ballot: 2027 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions
{
"resourceType" : "Bundle",
"id" : "mii-exa-seltene-bundle-marfan-complete",
"language" : "en",
"type" : "transaction",
"timestamp" : "2024-12-15T14:00:00Z",
"entry" : [
{
"fullUrl" : "urn:uuid:546740dd-771d-41e4-a2a5-e8d6a2b5c505",
"resource" : {
"resourceType" : "Patient",
"id" : "mii-exa-seltene-patient-marfan-001",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>"
},
"identifier" : [
{
"system" : "https://www.medizininformatik-initiative.de/fhir/sid/patient-id",
"value" : "MRF-2024-001"
}
],
"gender" : "male",
"birthDate" : "2005-01-01"
},
"request" : {
"method" : "POST",
"url" : "Patient"
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},
{
"fullUrl" : "urn:uuid:12b18efe-aae8-4039-9e2c-466ee0cb0ce0",
"resource" : {
"resourceType" : "Condition",
"id" : "mii-exa-seltene-condition-marfan-suspected",
"meta" : {
"profile" : [
🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-diagnosis|2027.0.0-ballot"
]
},
"language" : "en",
"text" : {
"status" : "extensions",
"div" : "<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>\n</div></blockquote></div>"
},
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/condition-assertedDate",
"valueDateTime" : "2024-12-10"
}
],
"clinicalStatus" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/condition-clinical",
"code" : "active"
}
]
},
"verificationStatus" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/condition-ver-status",
"code" : "provisional"
}
]
},
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/condition-category",
"code" : "encounter-diagnosis"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://fhir.de/CodeSystem/bfarm/icd-10-gm",
"version" : "2024",
"code" : "Q87.4",
"display" : "Marfan-Syndrom"
},
{
"system" : "http://snomed.info/sct",
"code" : "19346006",
"display" : "Marfan syndrome"
},
{
"system" : "http://www.orpha.net",
"code" : "558",
"display" : "Marfan syndrome"
}
],
"text" : "Verdacht auf Marfan-Syndrom"
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"recordedDate" : "2024-12-10",
"note" : [
{
"text" : "Verdacht auf Marfan-Syndrom aufgrund klinischer Präsentation"
}
]
},
"request" : {
"method" : "POST",
"url" : "Condition"
}
},
{
"fullUrl" : "urn:uuid:6842a03b-9adc-4cb7-9126-85d317203e7b",
"resource" : {
"resourceType" : "Condition",
"id" : "mii-exa-seltene-condition-marfan-clinical",
"meta" : {
"profile" : [
🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-diagnosis|2027.0.0-ballot"
]
},
"language" : "en",
"text" : {
"status" : "extensions",
"div" : "<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>\n</div></blockquote></div>"
},
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/condition-assertedDate",
"valueDateTime" : "2024-12-15"
}
],
"clinicalStatus" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/condition-clinical",
"code" : "active"
}
]
},
"verificationStatus" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/condition-ver-status",
"code" : "confirmed"
}
]
},
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/condition-category",
"code" : "encounter-diagnosis"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://omim.org",
"version" : "2024",
"code" : "154700",
"display" : "Marfan syndrome"
},
{
"system" : "http://snomed.info/sct",
"code" : "19346006",
"display" : "Marfan syndrome"
},
{
"system" : "http://www.orpha.net",
"code" : "558",
"display" : "Marfan syndrome"
}
],
"text" : "Marfan-Syndrom"
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"encounter" : {
🔗 "reference" : "Encounter/mii-exa-seltene-encounter-cardiology"
},
"recordedDate" : "2024-12-15",
"evidence" : [
{
"code" : [
{
"coding" : [
{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0002616",
"display" : "Aortic root aneurysm"
}
]
}
],
"detail" : [
{
🔗 "reference" : "Observation/mii-exa-seltene-symptom-aortic-root"
}
]
},
{
"code" : [
{
"coding" : [
{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0001659",
"display" : "Aortic regurgitation"
}
]
}
],
"detail" : [
{
🔗 "reference" : "Observation/mii-exa-seltene-symptom-aortic-regurg"
}
]
},
{
"code" : [
{
"coding" : [
{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0001653",
"display" : "Mitral regurgitation"
}
]
}
],
"detail" : [
{
🔗 "reference" : "Observation/mii-exa-seltene-symptom-mitral-regurg"
}
]
},
{
"code" : [
{
"coding" : [
{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0000098",
"display" : "Tall stature"
}
]
}
],
"detail" : [
{
🔗 "reference" : "Observation/mii-exa-seltene-observation-height-001"
}
]
},
{
"code" : [
{
"coding" : [
{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0100559",
"display" : "Lower limb asymmetry"
}
]
}
],
"detail" : [
{
🔗 "reference" : "Observation/mii-exa-seltene-observation-leg-asymmetry"
}
]
},
{
"code" : [
{
"coding" : [
{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0100749",
"display" : "Chest pain"
}
]
}
],
"detail" : [
{
🔗 "reference" : "Observation/mii-exa-seltene-symptom-chest-pain"
}
]
}
],
"note" : [
{
"text" : "Marfan-Syndrom klinisch diagnostiziert basierend auf kardialen Befunden, Skelettmerkmalen und ophthalmologischer Manifestation"
}
]
},
"request" : {
"method" : "POST",
"url" : "Condition"
}
},
{
"fullUrl" : "urn:uuid:23bd27f8-f2b5-4bc9-8fa3-078c26bc64a2",
"resource" : {
"resourceType" : "Condition",
"id" : "mii-exa-seltene-condition-marfan-genetic",
"meta" : {
"profile" : [
🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-genetic-diagnosis|2027.0.0-ballot"
]
},
"language" : "en",
"text" : {
"status" : "extensions",
"div" : "<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>\n</div></blockquote></div>"
},
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/condition-assertedDate",
"valueDateTime" : "2024-12-20"
}
],
"clinicalStatus" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/condition-clinical",
"code" : "active"
}
]
},
"verificationStatus" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/condition-ver-status",
"code" : "confirmed"
}
]
},
"category" : [
{
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "782964007",
"display" : "Genetic disease"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://omim.org",
"version" : "2024",
"code" : "154700",
"display" : "Marfan syndrome"
},
{
"system" : "http://snomed.info/sct",
"code" : "19346006",
"display" : "Marfan syndrome"
},
{
"system" : "http://www.orpha.net",
"code" : "558",
"display" : "Marfan syndrome"
}
],
"text" : "Marfan-Syndrom - genetisch bestätigt"
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"recordedDate" : "2024-12-20",
"evidence" : [
{
"code" : [
{
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "106221001",
"display" : "Genetic finding"
}
]
}
],
"detail" : [
{
🔗 "reference" : "Observation/mii-exa-seltene-variant-fbn1-001"
}
]
}
],
"note" : [
{
"text" : "FBN1-Mutation c.3217G>A (p.Gly1073Arg) nachgewiesen, krankheitsursächlich. Genetische Diagnose existiert parallel zur klinischen Diagnose."
}
]
},
"request" : {
"method" : "POST",
"url" : "Condition"
}
},
{
"fullUrl" : "urn:uuid:f584ef12-6225-4e71-9186-68528f68e07d",
"resource" : {
"resourceType" : "Condition",
"id" : "mii-exa-seltene-condition-cataract",
"meta" : {
"profile" : [
🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-diagnosis|2027.0.0-ballot"
]
},
"language" : "en",
"text" : {
"status" : "extensions",
"div" : "<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>\n</div></blockquote></div>"
},
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/condition-assertedDate",
"valueDateTime" : "2024-10-15"
}
],
"clinicalStatus" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/condition-clinical",
"code" : "resolved"
}
]
},
"verificationStatus" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/condition-ver-status",
"code" : "confirmed"
}
]
},
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/condition-category",
"code" : "encounter-diagnosis"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://fhir.de/CodeSystem/bfarm/icd-10-gm",
"version" : "2024",
"code" : "H26.9",
"display" : "Katarakt, nicht näher bezeichnet"
},
{
"system" : "http://snomed.info/sct",
"code" : "193570009",
"display" : "Cataract"
},
{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0000518",
"display" : "Cataract"
}
],
"text" : "Katarakt bilateral"
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"encounter" : {
🔗 "reference" : "Encounter/mii-exa-seltene-encounter-ophthalmology"
},
"abatementDateTime" : "2024-11-12",
"recordedDate" : "2024-10-15",
"evidence" : [
{
"code" : [
{
"coding" : [
{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0000518",
"display" : "Cataract"
}
]
}
],
"detail" : [
{
🔗 "reference" : "Observation/mii-exa-seltene-symptom-cataract"
}
]
}
],
"note" : [
{
"text" : "Katarakt bilateral, operativ versorgt"
}
]
},
"request" : {
"method" : "POST",
"url" : "Condition"
}
},
{
"fullUrl" : "urn:uuid:72fa4681-014d-4caa-86a3-97cea92766f4",
"resource" : {
"resourceType" : "Observation",
"id" : "mii-exa-seltene-observation-height-001",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "vital-signs"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "8302-2",
"display" : "Body height"
}
]
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"effectiveDateTime" : "2024-12-15",
"valueQuantity" : {
"value" : 213,
"unit" : "cm",
"system" : "http://unitsofmeasure.org",
"code" : "cm"
},
"interpretation" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
"code" : "H",
"display" : "High"
}
]
}
],
"bodySite" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "38266002",
"display" : "Entire body as a whole"
}
]
},
"component" : [
{
"code" : {
"coding" : [
{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0000098",
"display" : "Tall stature"
}
]
},
"valueString" : "Pathologischer Hochwuchs >99. Perzentile"
}
]
},
"request" : {
"method" : "POST",
"url" : "Observation"
}
},
{
"fullUrl" : "urn:uuid:9dfa4ddc-723f-4c65-b86d-1a88304e77fe",
"resource" : {
"resourceType" : "Observation",
"id" : "mii-exa-seltene-observation-leg-asymmetry",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "exam"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "707738004",
"display" : "Leg length discrepancy"
}
]
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"effectiveDateTime" : "2024-12-15",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "7771000",
"display" : "Left"
}
]
},
"interpretation" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
"code" : "A",
"display" : "Abnormal"
}
]
}
],
"bodySite" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "30021000",
"display" : "Lower leg structure"
}
]
},
"component" : [
{
"code" : {
"coding" : [
{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0100559",
"display" : "Lower limb asymmetry"
}
]
},
"valueString" : "Rechtes Bein verkürzt"
}
]
},
"request" : {
"method" : "POST",
"url" : "Observation"
}
},
{
"fullUrl" : "urn:uuid:b5f66545-2f6e-450c-a92e-8e9d2626e003",
"resource" : {
"resourceType" : "Observation",
"id" : "mii-exa-seltene-symptom-chest-pain",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "exam"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0100749",
"display" : "Chest pain"
},
{
"system" : "http://snomed.info/sct",
"code" : "29857009",
"display" : "Chest pain"
}
],
"text" : "Thoraxschmerzen"
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"effectiveDateTime" : "2024-12-15",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "52101004",
"display" : "Present"
}
]
},
"interpretation" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
"code" : "A",
"display" : "Abnormal"
}
]
}
]
},
"request" : {
"method" : "POST",
"url" : "Observation"
}
},
{
"fullUrl" : "urn:uuid:ce25223c-45fe-4a87-ba1b-e120cba24e94",
"resource" : {
"resourceType" : "Observation",
"id" : "mii-exa-seltene-symptom-cataract",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "exam"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0000518",
"display" : "Cataract"
},
{
"system" : "http://snomed.info/sct",
"code" : "193570009",
"display" : "Cataract"
}
],
"text" : "Katarakt bilateral"
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"effectiveDateTime" : "2024-10-15",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "51440002",
"display" : "Bilateral"
}
]
},
"interpretation" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
"code" : "A",
"display" : "Abnormal"
}
]
}
],
"bodySite" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "81745001",
"display" : "Eye structure"
}
]
}
},
"request" : {
"method" : "POST",
"url" : "Observation"
}
},
{
"fullUrl" : "urn:uuid:a482bf38-9c7a-4295-a0f2-a38c1d15aae7",
"resource" : {
"resourceType" : "Observation",
"id" : "mii-exa-seltene-symptom-aortic-root",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "imaging"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0002616",
"display" : "Aortic root aneurysm"
},
{
"system" : "http://snomed.info/sct",
"code" : "251036003",
"display" : "Aortic root dilatation"
}
],
"text" : "Aortenwurzeldilatation"
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"effectiveDateTime" : "2024-12-15",
"valueQuantity" : {
"value" : 48,
"unit" : "mm",
"system" : "http://unitsofmeasure.org",
"code" : "mm"
},
"interpretation" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
"code" : "H",
"display" : "High"
}
]
}
],
"referenceRange" : [
{
"high" : {
"value" : 40,
"unit" : "mm"
},
"text" : "Normwert <40mm"
}
]
},
"request" : {
"method" : "POST",
"url" : "Observation"
}
},
{
"fullUrl" : "urn:uuid:7b78bb46-817f-4786-84f8-0805b1580192",
"resource" : {
"resourceType" : "Observation",
"id" : "mii-exa-seltene-symptom-aortic-regurg",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "imaging"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0001659",
"display" : "Aortic regurgitation"
},
{
"system" : "http://snomed.info/sct",
"code" : "60234000",
"display" : "Aortic valve regurgitation"
}
],
"text" : "Aortenklappeninsuffizienz"
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"effectiveDateTime" : "2024-12-15",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "838545002",
"display" : "Moderate aortic valve regurgitation"
}
],
"text" : "Aortenklappeninsuffizienz Grad II"
},
"interpretation" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
"code" : "A",
"display" : "Abnormal"
}
]
}
]
},
"request" : {
"method" : "POST",
"url" : "Observation"
}
},
{
"fullUrl" : "urn:uuid:a933aaca-920c-4d29-be34-1d38c60b8bc9",
"resource" : {
"resourceType" : "Observation",
"id" : "mii-exa-seltene-symptom-mitral-regurg",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "imaging"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0001653",
"display" : "Mitral regurgitation"
},
{
"system" : "http://snomed.info/sct",
"code" : "48724000",
"display" : "Mitral valve regurgitation"
}
],
"text" : "Mitralklappeninsuffizienz"
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"effectiveDateTime" : "2024-12-15",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "838451005",
"display" : "Mild mitral valve regurgitation"
}
],
"text" : "Mitralklappeninsuffizienz Grad I"
},
"interpretation" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
"code" : "A",
"display" : "Abnormal"
}
]
}
]
},
"request" : {
"method" : "POST",
"url" : "Observation"
}
},
{
"fullUrl" : "urn:uuid:b769b1ea-3ec2-4b35-86d2-9a0ca128e1e6",
"resource" : {
"resourceType" : "Observation",
"id" : "mii-exa-seltene-variant-fbn1-001",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>\n</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>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "55233-1",
"display" : "Genetic analysis master panel"
}
]
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"effectiveDateTime" : "2024-12-20",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "10828004",
"display" : "Positive"
}
]
},
"interpretation" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
"code" : "POS",
"display" : "Positive"
}
]
}
],
"note" : [
{
"text" : "Pathogene FBN1-Mutation, krankheitsursächlich für Marfan-Syndrom"
}
],
"component" : [
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "48018-6",
"display" : "Gene studied [ID]"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org/geneId",
"code" : "HGNC:3603",
"display" : "FBN1"
}
]
}
},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "48004-6",
"display" : "DNA change (c.HGVS)"
}
]
},
"valueCodeableConcept" : {
"text" : "c.3217G>A"
}
},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "48005-3",
"display" : "Amino acid change (pHGVS)"
}
]
},
"valueCodeableConcept" : {
"text" : "p.Gly1073Arg"
}
},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "53037-8",
"display" : "Genetic variation clinical significance [Imp]"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "LA6668-3",
"display" : "Pathogenic"
}
]
}
}
]
},
"request" : {
"method" : "POST",
"url" : "Observation"
}
},
{
"fullUrl" : "urn:uuid:b4d84fa0-2c48-4613-ba4f-05b75d83c3c9",
"resource" : {
"resourceType" : "Observation",
"id" : "mii-exa-seltene-observation-echo-aortic",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "imaging"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "78176-5",
"display" : "Aorta root Diameter by US 2D"
}
]
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"effectiveDateTime" : "2024-12-15",
"valueQuantity" : {
"value" : 48,
"unit" : "mm",
"system" : "http://unitsofmeasure.org",
"code" : "mm"
},
"interpretation" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
"code" : "H",
"display" : "High"
}
]
}
],
"method" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "40701008",
"display" : "Echocardiography"
}
]
}
},
"request" : {
"method" : "POST",
"url" : "Observation"
}
},
{
"fullUrl" : "urn:uuid:796c77be-100b-4935-b738-ef8d6175d668",
"resource" : {
"resourceType" : "Observation",
"id" : "mii-exa-seltene-observation-echo-av",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "imaging"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "18112-3",
"display" : "Aortic valve Regurgitation degree by US.doppler"
}
]
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"effectiveDateTime" : "2024-12-15",
"valueCodeableConcept" : {
"text" : "Grad II"
},
"interpretation" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
"code" : "A",
"display" : "Abnormal"
}
]
}
],
"method" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "40701008",
"display" : "Echocardiography"
}
]
}
},
"request" : {
"method" : "POST",
"url" : "Observation"
}
},
{
"fullUrl" : "urn:uuid:c9a2b002-1177-4c4e-82c0-a8d32983da28",
"resource" : {
"resourceType" : "Observation",
"id" : "mii-exa-seltene-observation-echo-mv",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "imaging"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "18113-1",
"display" : "Mitral valve Regurgitation degree by US.doppler"
}
]
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"effectiveDateTime" : "2024-12-15",
"valueCodeableConcept" : {
"text" : "Grad I"
},
"interpretation" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
"code" : "A",
"display" : "Abnormal"
}
]
}
],
"method" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "40701008",
"display" : "Echocardiography"
}
]
}
},
"request" : {
"method" : "POST",
"url" : "Observation"
}
},
{
"fullUrl" : "urn:uuid:7aa4841a-ee1c-462f-86c7-00a2705d42f4",
"resource" : {
"resourceType" : "Procedure",
"id" : "mii-exa-seltene-procedure-cataract-surgery",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>\n</div></blockquote></div>"
},
"status" : "completed",
"category" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "387713003",
"display" : "Surgical procedure"
}
]
},
"code" : {
"coding" : [
{
"system" : "http://fhir.de/CodeSystem/bfarm/ops",
"code" : "5-144.5a",
"display" : "Extrakapsuläre Extraktion der Linse [ECCE]: Linsenkernverflüssigung [Phakoemulsifikation] über kornealen Zugang: Mit Einführung einer kapselfixierten Hinterkammerlinse, monofokale Intraokularlinse"
},
{
"system" : "http://snomed.info/sct",
"code" : "54885007",
"display" : "Extraction of cataract"
}
],
"text" : "Phakoemulsifikation mit IOL-Implantation"
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"performedDateTime" : "2024-11-12",
"reasonReference" : [
{
🔗 "reference" : "Condition/mii-exa-seltene-condition-cataract"
}
],
"outcome" : {
"text" : "Erfolgreiche Linsenimplantation ohne Komplikationen"
},
"note" : [
{
"text" : "Komplikationslose Phakoemulsifikation beider Augen mit Implantation monofokaler Intraokularlinsen"
}
]
},
"request" : {
"method" : "POST",
"url" : "Procedure"
}
},
{
"fullUrl" : "urn:uuid:853a938b-bc21-4757-98cc-c33554ea26af",
"resource" : {
"resourceType" : "Procedure",
"id" : "mii-exa-seltene-procedure-aortic-planned",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>\n</div></blockquote></div>"
},
"status" : "preparation",
"category" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "387713003",
"display" : "Surgical procedure"
}
]
},
"code" : {
"coding" : [
{
"system" : "http://fhir.de/CodeSystem/bfarm/ops",
"code" : "5-354.0a",
"display" : "Andere Operationen an Herzklappen: Aortenklappe: Rekonstruktion der Aortenwurzel mit Implantation einer Gefäßprothese nach David"
},
{
"system" : "http://snomed.info/sct",
"code" : "428179006",
"display" : "Replacement of aortic root"
}
],
"text" : "Aortenwurzelersatz (David-Operation)"
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"performedPeriod" : {
"start" : "2025-03-15"
},
"reasonReference" : [
{
🔗 "reference" : "Condition/mii-exa-seltene-condition-marfan-clinical"
}
],
"note" : [
{
"text" : "Geplante klappensparende Aortenwurzelersatz-Operation nach David bei progredienter Aortenwurzeldilatation"
}
]
},
"request" : {
"method" : "POST",
"url" : "Procedure"
}
},
{
"fullUrl" : "urn:uuid:8fb04be6-9930-4aec-8a5f-4ef9b904ae51",
"resource" : {
"resourceType" : "MedicationStatement",
"id" : "mii-exa-seltene-medication-losartan",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>\n</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>"
},
"status" : "active",
"medicationCodeableConcept" : {
"coding" : [
{
"system" : "http://fhir.de/CodeSystem/bfarm/atc",
"code" : "C09CA01",
"display" : "Losartan"
},
{
"system" : "http://snomed.info/sct",
"code" : "373567002",
"display" : "Losartan"
}
],
"text" : "Losartan 50mg"
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"effectiveDateTime" : "2024-12-15",
"reasonReference" : [
{
🔗 "reference" : "Condition/mii-exa-seltene-condition-marfan-clinical"
}
],
"note" : [
{
"text" : "Zur Progressionshemmung der Aortenwurzeldilatation bei Marfan-Syndrom"
}
],
"dosage" : [
{
"text" : "50mg einmal täglich",
"timing" : {
"repeat" : {
"frequency" : 1,
"period" : 1,
"periodUnit" : "d"
}
},
"route" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "26643006",
"display" : "Oral route"
}
]
},
"doseAndRate" : [
{
"doseQuantity" : {
"value" : 50,
"unit" : "mg",
"system" : "http://unitsofmeasure.org",
"code" : "mg"
}
}
]
}
]
},
"request" : {
"method" : "POST",
"url" : "MedicationStatement"
}
},
{
"fullUrl" : "urn:uuid:35d41288-207b-4be7-967a-d92e295d1c75",
"resource" : {
"resourceType" : "ClinicalImpression",
"id" : "mii-exa-seltene-clinical-impression-seltene-assessment",
"meta" : {
"profile" : [
🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-impression|2027.0.0-ballot"
]
},
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>\n</div></blockquote><blockquote><div><p>Multidisziplinäre Betreuung im ZSE etabliert. Regelmäßige kardiologische Kontrollen alle 6 Monate. Genetische Beratung für Familienplanung empfohlen.</p>\n</div></blockquote></div>"
},
"status" : "completed",
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"encounter" : {
🔗 "reference" : "Encounter/mii-exa-seltene-encounter-cardiology"
},
"effectiveDateTime" : "2024-12-15",
"date" : "2024-12-15",
"problem" : [
{
🔗 "reference" : "Condition/mii-exa-seltene-condition-marfan-suspected"
},
{
🔗 "reference" : "Condition/mii-exa-seltene-condition-marfan-clinical"
},
{
🔗 "reference" : "Condition/mii-exa-seltene-condition-marfan-genetic"
}
],
"investigation" : [
{
"code" : {
"text" : "Echokardiographie"
},
"item" : [
{
🔗 "reference" : "Observation/mii-exa-seltene-observation-echo-aortic"
},
{
🔗 "reference" : "Observation/mii-exa-seltene-observation-echo-av"
},
{
🔗 "reference" : "Observation/mii-exa-seltene-observation-echo-mv"
}
]
}
],
"summary" : "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" : "Condition/mii-exa-seltene-condition-marfan-clinical"
}
},
{
"itemReference" : {
🔗 "reference" : "Condition/mii-exa-seltene-condition-marfan-genetic"
}
},
{
"itemCodeableConcept" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "251036003",
"display" : "Aortic root dilatation"
}
]
},
"itemReference" : {
🔗 "reference" : "Observation/mii-exa-seltene-symptom-aortic-root"
}
},
{
"itemCodeableConcept" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "60234000",
"display" : "Aortic valve regurgitation"
}
]
},
"itemReference" : {
🔗 "reference" : "Observation/mii-exa-seltene-symptom-aortic-regurg"
}
},
{
"itemCodeableConcept" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "48724000",
"display" : "Mitral valve regurgitation"
}
]
},
"itemReference" : {
🔗 "reference" : "Observation/mii-exa-seltene-symptom-mitral-regurg"
}
},
{
"itemCodeableConcept" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "248328003",
"display" : "Tall stature"
}
]
},
"itemReference" : {
🔗 "reference" : "Observation/mii-exa-seltene-observation-height-001"
}
},
{
"itemCodeableConcept" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "707738004",
"display" : "Leg length discrepancy"
}
]
},
"itemReference" : {
🔗 "reference" : "Observation/mii-exa-seltene-observation-leg-asymmetry"
}
}
],
"prognosisCodeableConcept" : [
{
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "67334001",
"display" : "Guarded prognosis"
}
]
}
],
"note" : [
{
"text" : "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."
},
{
"text" : "Multidisziplinäre Betreuung im ZSE etabliert. Regelmäßige kardiologische Kontrollen alle 6 Monate. Genetische Beratung für Familienplanung empfohlen."
}
]
},
"request" : {
"method" : "POST",
"url" : "ClinicalImpression"
}
},
{
"fullUrl" : "urn:uuid:258f0a21-4c6e-473d-87e9-36a5bf01bb1a",
"resource" : {
"resourceType" : "Encounter",
"id" : "mii-exa-seltene-encounter-ophthalmology",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>"
},
"status" : "finished",
"class" : {
"system" : "http://terminology.hl7.org/CodeSystem/v3-ActCode",
"code" : "AMB",
"display" : "ambulatory"
},
"type" : [
{
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "36228007",
"display" : "Ophthalmic examination and evaluation"
}
]
}
],
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"period" : {
"start" : "2024-10-15",
"end" : "2024-10-15"
},
"diagnosis" : [
{
"condition" : {
🔗 "reference" : "Condition/mii-exa-seltene-condition-cataract"
},
"use" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/diagnosis-role",
"code" : "AD",
"display" : "Admission diagnosis"
}
]
}
}
]
},
"request" : {
"method" : "POST",
"url" : "Encounter"
}
},
{
"fullUrl" : "urn:uuid:70504d04-a6f0-4aa8-bd20-9b475b94438c",
"resource" : {
"resourceType" : "Encounter",
"id" : "mii-exa-seltene-encounter-cataract-surgery",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>"
},
"status" : "finished",
"class" : {
"system" : "http://terminology.hl7.org/CodeSystem/v3-ActCode",
"code" : "SS",
"display" : "short stay"
},
"type" : [
{
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "305408004",
"display" : "Admission to surgical department"
}
]
}
],
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"period" : {
"start" : "2024-11-12T07:00:00Z",
"end" : "2024-11-12T15:00:00Z"
},
"diagnosis" : [
{
"condition" : {
🔗 "reference" : "Condition/mii-exa-seltene-condition-cataract"
},
"use" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/diagnosis-role",
"code" : "CC",
"display" : "Chief complaint"
}
]
}
}
]
},
"request" : {
"method" : "POST",
"url" : "Encounter"
}
},
{
"fullUrl" : "urn:uuid:c90d7e24-a787-4d1b-b402-36b64362cc13",
"resource" : {
"resourceType" : "Encounter",
"id" : "mii-exa-seltene-encounter-cardiology",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>"
},
"status" : "finished",
"class" : {
"system" : "http://terminology.hl7.org/CodeSystem/v3-ActCode",
"code" : "AMB",
"display" : "ambulatory"
},
"type" : [
{
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "185228002",
"display" : "Seen in cardiac clinic (finding)"
}
]
}
],
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"period" : {
"start" : "2024-12-15",
"end" : "2024-12-15"
},
"reasonCode" : [
{
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "29857009",
"display" : "Chest pain"
}
],
"text" : "Thoraxschmerzen bei V.a. Marfan-Syndrom"
}
],
"diagnosis" : [
{
"condition" : {
🔗 "reference" : "Condition/mii-exa-seltene-condition-marfan-clinical"
},
"use" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/diagnosis-role",
"code" : "AD",
"display" : "Admission diagnosis"
}
]
}
}
]
},
"request" : {
"method" : "POST",
"url" : "Encounter"
}
},
{
"fullUrl" : "urn:uuid:1ec76c96-9e7d-403a-9ea5-1f2eaea6ef28",
"resource" : {
"resourceType" : "Encounter",
"id" : "mii-exa-seltene-encounter-surgery-planned",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>"
},
"status" : "planned",
"class" : {
"system" : "http://terminology.hl7.org/CodeSystem/v3-ActCode",
"code" : "IMP",
"display" : "inpatient encounter"
},
"type" : [
{
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "305357000",
"display" : "Admission to cardiology department"
}
]
}
],
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-marfan-001"
},
"period" : {
"start" : "2025-03-15"
},
"reasonCode" : [
{
"text" : "Elektive Aortenwurzelersatz-Operation bei Marfan-Syndrom"
}
],
"diagnosis" : [
{
"condition" : {
🔗 "reference" : "Condition/mii-exa-seltene-condition-marfan-clinical"
},
"use" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/diagnosis-role",
"code" : "CC",
"display" : "Chief complaint"
}
]
}
}
]
},
"request" : {
"method" : "POST",
"url" : "Encounter"
}
}
]
}