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

Beispiel Condition: Phenylketonurie - Genetische Diagnose

German

Profile: MII PR SE Genetic Diagnosis version: 2027.0.0-ballot

clinicalStatus: Active

verificationStatus: Confirmed

category: Genetic disease

code: Phenylketonurie

subject: Max Mustermann (official) Male, DoB: 1990-01-01 ( http://test-krankenhaus.de/fhir/sid/patienten#12345)

recordedDate: 2024-01-01

Evidences

-CodeDetail
*PAH-Gen Mutation c.1222C>T (p.R408W)Observation Genetic variant assessment

note:

Klassische PKU mit PAH-Gen Mutation c.1222C>T, erfordert lebenslange phenylalaninarme Diät