MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot - Germany

This page is part of the MII Implementation Guide Seltene Erkrankungen (v2027.0.0-ballot: 2027 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Beispiel Condition: Duchenne ausgeschlossen - Becker bestätigt

German

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

Condition Asserted Date: 2024-09-15

clinicalStatus: Inactive

verificationStatus: Refuted

category: Genetic disease

code: Duchenne-Muskeldystrophie (ausgeschlossen)

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

abatement: 2024-09-15

recordedDate: 2024-09-15

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:

In-frame Deletion Exon 45-47 im DMD-Gen nachgewiesen. Vereinbar mit Becker-Muskeldystrophie, NICHT Duchenne. Duchenne-Muskeldystrophie ausgeschlossen.