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

Example Condition: Marfan-Syndrom - Genetische Diagnose

English

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

subject: Anonymous Patient Male, DoB: 2005-01-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#MRF-2024-001)

recordedDate: 2024-12-20

Evidences

-CodeDetail
*Genetic findingObservation Genetic analysis master panel

note:

FBN1-Mutation c.3217G>A (p.Gly1073Arg) nachgewiesen, krankheitsursächlich. Genetische Diagnose existiert parallel zur klinischen Diagnose.