MII Implementierungsleitfaden 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 in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Beispiel Observation: Genotyp BRAF

German

Profiles: MII PR MolGen Genotyp version: 2027.0.0-ballot.1, Genotype version: 3.0.0

status: Final

category: Laboratory, Genetik

code: Genotype display name

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

effective: 2022-04-07

value: BRAF rs113488022 T>A

method: Sequencing

specimen: Specimen: identifier = https://biobank.uk-musterstadt.de/fhir/sid/proben#5432; status = available; type = Tissue specimen from colon (specimen)

device: Device: status = active; manufacturer = Illumina

derivedFrom: Observation Genetic variant assessment

component

code: Gene studied [ID]

value: BRAF

component

code: Cytogenetic (chromosome) location

value: 7q34