FHIR IG analytics| Package | de.medizininformatikinitiative.kerndatensatz.seltene |
| Resource Type | ClinicalImpression |
| Id | ClinicalImpression-clinical-impression-seltene-assessment.json |
| FHIR Version | R4 |
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{
"resourceType": "ClinicalImpression",
"id": "clinical-impression-seltene-assessment",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-impression|2026.0.0"
]
},
"status": "completed",
"subject": {
"reference": "Patient/patient-marfan-001"
},
"encounter": {
"reference": "Encounter/encounter-cardiology"
},
"effectiveDateTime": "2024-12-15",
"date": "2024-12-15",
"problem": [
{
"reference": "Condition/condition-marfan-suspected"
},
{
"reference": "Condition/condition-marfan-clinical"
},
{
"reference": "Condition/condition-marfan-genetic"
}
],
"investigation": [
{
"code": {
"text": "Echokardiographie"
},
"item": [
{
"reference": "Observation/observation-echo-aortic"
},
{
"reference": "Observation/observation-echo-av"
},
{
"reference": "Observation/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/condition-marfan-clinical"
}
},
{
"itemReference": {
"reference": "Condition/condition-marfan-genetic"
}
},
{
"itemCodeableConcept": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "251036003",
"display": "Aortic root dilatation"
}
]
},
"itemReference": {
"reference": "Observation/symptom-aortic-root"
}
},
{
"itemCodeableConcept": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "60234000",
"display": "Aortic valve regurgitation"
}
]
},
"itemReference": {
"reference": "Observation/symptom-aortic-regurg"
}
},
{
"itemCodeableConcept": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "48724000",
"display": "Mitral valve regurgitation"
}
]
},
"itemReference": {
"reference": "Observation/symptom-mitral-regurg"
}
},
{
"itemCodeableConcept": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "248328003",
"display": "Tall stature"
}
]
},
"itemReference": {
"reference": "Observation/observation-height-001"
}
},
{
"itemCodeableConcept": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "707738004",
"display": "Leg length discrepancy"
}
]
},
"itemReference": {
"reference": "Observation/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."
}
]
}