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: FBN1 Gen - Pathogene Mutation

German

status: Final

category: Laboratory

code: Genetic analysis master panel

subject: Anonymous Patient Male, DoB: 2005-01-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#MRF-2024-001)

effective: 2024-12-20

value: Positive

interpretation: Positive

note:

Pathogene FBN1-Mutation, krankheitsursächlich für Marfan-Syndrom

component

code: Gene studied [ID]

value: FBN1

component

code: DNA change (c.HGVS)

value: c.3217G>A

component

code: Amino acid change (pHGVS)

value: p.Gly1073Arg

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic