MII Implementierungsleitfaden Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 -
Germany
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
German
Profiles: MII PR MolGen Molekulare Konsequenz, https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulare-konsequenz|2027.0.0-ballot.1, Molecular Consequence 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, 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: Nachweis einer pathogenen Variante im NIPBL-Gen in heterozygoter Form.
component
code: Genetic variation clinical significance [Imp]
value: Pathogenic