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: SMA Typ 1 - Genetisch bestätigte Diagnose

German

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

Condition Asserted Date: 2024-07-26

clinicalStatus: Active

verificationStatus: Confirmed

category: Genetic disease

code: Spinale Muskelatrophie Typ 1, genetisch bestätigt

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

encounter: Encounter: status = finished; class = ambulatory (ActCode#AMB); type = Genetic counseling; period = 2024-09-15 --> 2024-09-15

onset: 2024-07-01

recordedDate: 2024-07-26

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:

Homozygote Deletion des SMN1-Gens nachgewiesen. 0 Kopien SMN1, 2 Kopien SMN2. Diagnose molekulargenetisch gesichert.