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 Genetik - Negativbefund

English

Genetic analysis report (Laboratory)

SubjectMax Mustermann (official) Male, DoB: 1990-01-01 ( http://test-krankenhaus.de/fhir/sid/patienten#12345)
Relevant Time2024-07-26

Report Details

CodeValueFlagsNote
Genetic variant assessmentNormal resultFinal, Normal

Normale Kopienanzahl des SMN1-Gens. SMA ausgeschlossen.

SMN1-Gen: 2 Kopien (Normalbefund). SMN2-Gen: 2 Kopien. Spinale Muskelatrophie ausgeschlossen.

Coded Conclusions:

  • Normal result