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

Example Observation: DMD Exon 45-47 Deletion - MolGen Variante

English

status: Final

category: Laboratory

code: Genetic variant assessment

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

effective: 2024-09-15

value: Positive

component

code: Gene studied [ID]

value: DMD

component

code: Genomic source class

value: Germline

component

code: Genomic DNA change (gHGVS)

value: NC_000023.11:g.31774346_31953400del

component

code: DNA change (c.HGVS)

value: c.6439-?_6912+?del

component

code: Deleted Exons

value: Exons 45-47

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic