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 Observation: SMN1 Gen - Homozygote Deletion

German

status: Final

category: Laboratory

code: Genetic analysis master panel

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

effective: 2024-07-26

value: Positive

interpretation: Positive

note:

Homozygote Deletion des SMN1-Gens, krankheitsursächlich für SMA

component

code: Gene studied [ID]

value: SMN1

component

code: Human reference sequence assembly version

value: GRCh38

component

code: Allelic state

value: Homozygous

component

code: Copy Number

value: 0 copies