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

MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht - Downloaded Version 2027.0.0-ballot.1 See the Directory of published versions

Example Observation: NIPBL Variante Diagnostische Implikation

English

Profiles: MII PR MolGen Diagnostische Implikation version: 2027.0.0-ballot.1, Diagnostic Implication version: 3.0.0

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: Diagnostic Implication

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

component

code: Condition Inheritance

value: Autosomal dominant inheritance

component

code: Associated phenotype

value: De Lange syndrome (disorder)