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: Mukoviszidose - Genetisch bestätigt

German

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

Condition Asserted Date: 2024-08-25

clinicalStatus: Active

verificationStatus: Confirmed

category: Genetic disease

code: Cystic fibrosis

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

recordedDate: 2024-08-25

evidence

code: Genetic finding

detail: Observation Genetic variant assessment

evidence

code: Genetic test

detail: Diagnostic Report for 'Genetic analysis report' for '->Max Mustermann (official) Male, DoB: 1990-01-01 ( http://test-krankenhaus.de/fhir/sid/patienten#12345)'

note:

Homozygot für F508del (c.1521_1523delCTT) im CFTR-Gen. Schwerer Phänotyp zu erwarten.