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. For a full list of available versions, see the Directory of published versions
English
Profile: MII PR SE Genetic Diagnosis version: 2027.0.0-ballot
Condition Asserted Date: 2024-08-25
clinicalStatus: Inactive
verificationStatus: Refuted
category: Genetic disease
code: Mukoviszidose (ausgeschlossen)
abatement: 2024-08-25
recordedDate: 2024-08-25
| Code | Detail |
| Genetic finding | Observation Genetic variant assessment |
note:
Heterozygoter Anlageträger für F508del. Zweite Mutation ausgeschlossen. IRT-Erhöhung im Screening war transient. Mukoviszidose ausgeschlossen.