English
Generated Narrative: Condition mii-exa-seltene-condition-marfan-suspected
Profile: MII PR SE Clinical Diagnosis version: 2027.0.0-ballot
Condition Asserted Date: 2024-12-10
clinicalStatus: Active
verificationStatus: Provisional
category: Encounter Diagnosis
code: Verdacht auf Marfan-Syndrom
recordedDate: 2024-12-10
note:
Verdacht auf Marfan-Syndrom aufgrund klinischer Präsentation
English
Generated Narrative: Condition mii-exa-seltene-condition-marfan-clinical
Profile: MII PR SE Clinical Diagnosis version: 2027.0.0-ballot
Condition Asserted Date: 2024-12-15
clinicalStatus: Active
verificationStatus: Confirmed
category: Encounter Diagnosis
code: Marfan-Syndrom
recordedDate: 2024-12-15
evidence
code: Aortic root aneurysm
detail: Observation Aortic root aneurysm
evidence
code: Aortic regurgitation
detail: Observation Aortic regurgitation
evidence
code: Mitral regurgitation
detail: Observation Mitral regurgitation
evidence
code: Tall stature
detail: Observation Body height
evidence
code: Lower limb asymmetry
evidence
code: Chest pain
detail: Observation Chest pain
note:
Marfan-Syndrom klinisch diagnostiziert basierend auf kardialen Befunden, Skelettmerkmalen und ophthalmologischer Manifestation
English
Generated Narrative: Condition mii-exa-seltene-condition-marfan-genetic
Profile: MII PR SE Genetic Diagnosis version: 2027.0.0-ballot
Condition Asserted Date: 2024-12-20
clinicalStatus: Active
verificationStatus: Confirmed
category: Genetic disease
code: Marfan-Syndrom - genetisch bestätigt
recordedDate: 2024-12-20
| Code | Detail |
| Genetic finding | Observation Genetic analysis master panel |
note:
FBN1-Mutation c.3217G>A (p.Gly1073Arg) nachgewiesen, krankheitsursächlich. Genetische Diagnose existiert parallel zur klinischen Diagnose.
English
Generated Narrative: Condition mii-exa-seltene-condition-cataract
Profile: MII PR SE Clinical Diagnosis version: 2027.0.0-ballot
Condition Asserted Date: 2024-10-15
clinicalStatus: Resolved
verificationStatus: Confirmed
category: Encounter Diagnosis
code: Katarakt bilateral
abatement: 2024-11-12
recordedDate: 2024-10-15
| Code | Detail |
| Cataract | Observation Cataract |
note:
Katarakt bilateral, operativ versorgt
English
Generated Narrative: Observation mii-exa-seltene-observation-height-001
status: Final
category: Vital Signs
code: Body height
effective: 2024-12-15
value: 213 cm (Details: UCUM codecm = 'cm')
interpretation: High
bodySite: Entire body as a whole
| Code | Value[x] |
| Tall stature | Pathologischer Hochwuchs >99. Perzentile |
English
Generated Narrative: Observation mii-exa-seltene-variant-fbn1-001
status: Final
category: Laboratory
code: Genetic analysis master panel
effective: 2024-12-20
value: Positive
interpretation: Positive
note:
Pathogene FBN1-Mutation, krankheitsursächlich für Marfan-Syndrom
component
code: Gene studied [ID]
value: FBN1
component
code: DNA change (c.HGVS)
value: c.3217G>A
component
code: Amino acid change (pHGVS)
value: p.Gly1073Arg
component
code: Genetic variation clinical significance [Imp]
value: Pathogenic
English
Generated Narrative: Procedure mii-exa-seltene-procedure-cataract-surgery
status: Completed
category: Surgical procedure
code: Phakoemulsifikation mit IOL-Implantation
performed: 2024-11-12
reasonReference: Condition Katarakt, nicht näher bezeichnet
outcome: Erfolgreiche Linsenimplantation ohne Komplikationen
note:
Komplikationslose Phakoemulsifikation beider Augen mit Implantation monofokaler Intraokularlinsen
English
Generated Narrative: Procedure mii-exa-seltene-procedure-aortic-planned
status: Preparation
category: Surgical procedure
code: Aortenwurzelersatz (David-Operation)
performed: 2025-03-15 --> (ongoing)
reasonReference: Condition Marfan syndrome
note:
Geplante klappensparende Aortenwurzelersatz-Operation nach David bei progredienter Aortenwurzeldilatation
English
Generated Narrative: MedicationStatement mii-exa-seltene-medication-losartan
status: Active
medication: Losartan 50mg
effective: 2024-12-15
reasonReference: Condition Marfan syndrome
note:
Zur Progressionshemmung der Aortenwurzeldilatation bei Marfan-Syndrom
dosage
text: 50mg einmal täglich
timing: Once per 1 day
route: Oral route
DoseAndRates
Dose[x] 50 mg (Details: UCUM codemg = 'mg')
English
Generated Narrative: ClinicalImpression mii-exa-seltene-clinical-impression-seltene-assessment
Profile: MII Profile SE Clinical Impression version: 2027.0.0-ballot
status: Completed
effective: 2024-12-15
date: 2024-12-15
problem:
investigation
code: Echokardiographie
item:
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: Condition Marfan syndrome
finding
itemReference: Condition Marfan syndrome
finding
itemCodeableConcept: Aortic root dilatation
itemReference: Observation Aortic root aneurysm
finding
itemCodeableConcept: Aortic valve regurgitation
itemReference: Observation Aortic regurgitation
finding
itemCodeableConcept: Mitral valve regurgitation
itemReference: Observation Mitral regurgitation
finding
itemCodeableConcept: Tall stature
itemReference: Observation Body height
finding
itemCodeableConcept: Leg length discrepancy
itemReference: Observation Leg length discrepancy
prognosisCodeableConcept: Guarded prognosis
note: ,
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.
Multidisziplinäre Betreuung im ZSE etabliert. Regelmäßige kardiologische Kontrollen alle 6 Monate. Genetische Beratung für Familienplanung empfohlen.
English
Generated Narrative: Encounter mii-exa-seltene-encounter-ophthalmology
status: Finished
class: ActCode: AMB (ambulatory)
type: Ophthalmic examination and evaluation
period: 2024-10-15 --> 2024-10-15
| Condition | Use |
| Condition Katarakt, nicht näher bezeichnet | Admission diagnosis |
English
Generated Narrative: Encounter mii-exa-seltene-encounter-cataract-surgery
status: Finished
class: ActCode: SS (short stay)
type: Admission to surgical department
period: 2024-11-12 07:00:00+0000 --> 2024-11-12 15:00:00+0000
| Condition | Use |
| Condition Katarakt, nicht näher bezeichnet | Chief complaint |
English
Generated Narrative: Encounter mii-exa-seltene-encounter-cardiology
status: Finished
class: ActCode: AMB (ambulatory)
type: Seen in cardiac clinic (finding)
period: 2024-12-15 --> 2024-12-15
reasonCode: Thoraxschmerzen bei V.a. Marfan-Syndrom
| Condition | Use |
| Condition Marfan syndrome | Admission diagnosis |
English
Generated Narrative: Encounter mii-exa-seltene-encounter-surgery-planned
status: Planned
class: ActCode: IMP (inpatient encounter)
type: Admission to cardiology department
period: 2025-03-15 --> (ongoing)
reasonCode: Elektive Aortenwurzelersatz-Operation bei Marfan-Syndrom
| Condition | Use |
| Condition Marfan syndrome | Chief complaint |