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: SMA - Genetisch ausgeschlossen

German

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

Condition Asserted Date: 2024-07-26

clinicalStatus: Inactive

verificationStatus: Refuted

category: Genetic disease

code: Spinale Muskelatrophie (genetisch ausgeschlossen)

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

abatement: 2024-07-26

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:

SMN1-Gen: 2 Kopien nachgewiesen (Normalbefund). SMN2-Gen: 2 Kopien. SMA genetisch ausgeschlossen.