MII IG 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

Example Observation: NIPBL Variante Molekulare Konsequenz

English

Related artifact: No display for RelatedArtifact (type: citation; citation: Richards et al., Genet Med. 2015; 17:405-24; url: https://doi.org/10.1038/gim.2015.30)

status: Final

category: Laboratory, Genetics

code: Molecular Consequence

subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))

effective: 2022-03-16

performer: Practitioner Dr. Daniel Schmidt(official)

derivedFrom: Observation Genetic variant assessment

component

code: Conclusion Text

value: Nachweis einer pathogenen Variante im NIPBL-Gen in heterozygoter Form.

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic