VRIS - Viljatusravi infosüsteem, published by TEHIK. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/TEHIK-EE/ig-ee-vris/ and changes regularly. See the Directory of published versions
clinicalStatus: Active
verificationStatus: Confirmed
category: Autosoom-retsessiivse geenivariandi kandlus
code: CFTR geeni c.1521_1523delCTT (p.Phe508del) variant — tsüstilise fibroosi kandlus
subject: Leena Lööve (official) Female, DoB: 1983-01-11 ( https://fhir.ee/sid/pid/est/ni#38301105216)
note:
Doonori lapsel diagnoositi tsüstiline fibroos. Doonori DNA-test kinnitas CFTR geeni heterosügootset kandlust.