MII Implementierungsleitfaden 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

Beispiel Observation: CNV SMO Molekulare Konsequenz


German


Related artifact: No display for RelatedArtifact (type: citation; citation: Richards et al., Genet Med. 2015; 17:405-24; url: https://pubmed.ncbi.nlm.nih.gov/25741868/)

status: Final

category: Laboratory, Genetik

code: Molecular Consequence

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

effective: 2022-03-16

performer: Practitioner Dr. Daniel Schmidt(official)

derivedFrom: Observation Genetic variant assessment

component

code: Conclusion Text

value: onkogene Veränderung mögl. Überexpression

component

code: Genetic variation clinical significance [Imp]

value: Likely pathogenic

component

code: Functional Effect

value: mögl. Überexpression