MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 -
Germany
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
English
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://pubmed.ncbi.nlm.nih.gov/25741868/)
status: Final
category: Laboratory, Genetics
code: Molecular Consequence
subject: Elisa Schmidt-Huber (official) Female, DoB: 1973-03-12 ( Medical record number (use: usual, ))
effective: 2022-11-01
performer: Practitioner Dr. Daniel Schmidt(official)
derivedFrom: Observation Genetic variant assessment
component
code: Conclusion Text
value: Nachweis heterozygoter Sequenzveränderung, die zum Funktionsverlust führt
component
code: Genetic variation clinical significance [Imp]
value: Pathogenic
component
code: Functional Effect
value: Funktionsverlust des Genprodukts
component
code: Level of evidence
value: 2 star