MII Implementierungsleitfaden Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 - Germany

This page is part of the MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht (v2027.0.0-ballot.1: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

Beispiel DiagnosticReport: Molekulargentischer Befund 2: Molekulargenetische Diagnose eines Cornelia de Lange-Syndrom autosomal dominanter Erbgang

German

Profiles: MII PR MolGen Molekulargenetischer Befundbericht version: 2027.0.0-ballot.1, Genomic Report version: 3.0.0

Genetic analysis report (Genetics)

SubjectMelanie Marie Müller (official) Female, DoB: 2021-09-19 ( Krankenaktennummer (use: usual, ))
Performer Practitioner Dr. Daniel Schmidt(official)

Report Details

CodeValueFlagsRelevant Time
Diagnostic ImplicationFinal2022-03-16
Genetic variant assessmentPresentFinal2022-03-16

Nachweis der pathogenen Variante c.2207del p.(Pro736Glnfs*58) (heterozygot) im NIPBL-Gen.