MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot - Germany

MII IG Kerndatensatz-Modul Seltene Erkrankungen - Downloaded Version 2027.0.0-ballot See the Directory of published versions

Example Condition: Hereditäres Mamma- und Ovarialkarzinom-Syndrom

English

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%.