SMA Diagnostische Implikation - MolGen - MII IG Kerndatensatz-Modul Seltene Erkrankungen v2027.0.0-ballot

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 DiagnosticReport: SMA Diagnostische Implikation - MolGen

English

Genetic analysis report (Laboratory)

Subject

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

Relevant Time

2024-07-26

Report Details

Code

Value

Flags

Genetic variant assessment

Positive

Final, Positive

Homozygote Deletion des SMN1-Gens nachgewiesen. Diagnose: Spinale Muskelatrophie. 2 Kopien des SMN2-Gens vorhanden, vereinbar mit schwerem Phänotyp (Typ 1).

Coded Conclusions:

Spinal muscular atrophy, type I

IG © 2022+ Medizininformatik Initiative. Package de.medizininformatikinitiative.kerndatensatz.seltene#2027.0.0-ballot based on FHIR 4.0.1. Generated 2026-09-14
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