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

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Beispiel Observation: Diagnostic Implication for KMT2A Variant

German

Profile: MII PR MolGen Diagnostische Implikation version: 2027.0.0-ballot.1

status: Final

category: Laboratory, Genetik

code: Diagnostic Implication

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Krankenaktennummer (use: usual, ))

effective: 2024-01-10

derivedFrom: Observation Genetic variant assessment

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Level of evidence

value: Strong evidence pathogenic

component

code: Associated phenotype

value: Wiedemann Steiner syndrome