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: SMA Genetische Diagnose

English

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: Spinal muscular atrophy, type I

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

onset: 2024-07-01

recordedDate: 2024-07-26

evidence

code: Genetic finding

detail:

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:

0 Kopien des SMN1-Gens, 2 Kopien des SMN2-Gens - krankheitsursächlich. Genetische Diagnose existiert parallel zur klinischen Diagnose.