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 Condition: Hereditäres Mamma- und Ovarialkarzinom-Syndrom

German

Profile: MII PR SE Genetic Diagnosis version: 2027.0.0-ballot

Condition Asserted Date: 2024-11-01

clinicalStatus: Active

verificationStatus: Confirmed

category: Genetic disease

code: Hereditäres Mamma- und Ovarialkarzinom-Syndrom (BRCA1)

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

recordedDate: 2024-11-01

evidence

code: Genetic finding

detail: Observation Genetic variant assessment

evidence

code: Genetic test

detail: Diagnostic Report for 'Master HL7 genetic variant reporting panel' for '->Max Mustermann (official) Male, DoB: 1990-01-01 ( http://test-krankenhaus.de/fhir/sid/patienten#12345)'

note:

Pathogene Variante c.68_69del (p.Glu23Valfs*17) in BRCA1 nachgewiesen. Penetranz für Mammakarzinom bis 80 Jahre: 72%.