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: Genotyp BRCA1

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: Elisa Schmidt-Huber (official) Female, DoB: 1973-03-12 ( Krankenaktennummer (use: usual, ))

effective: 2022-11-01

value: BRCA1, c.5266dup, p.(Gln1756Profs*74)

method: Sequencing

specimen: Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_03; status = available; type = Tissue specimen from breast (specimen); receivedTime = 2022-11-01

device: Device: status = active; manufacturer = Illumina

derivedFrom: Observation Genetic variant assessment

component

code: Gene studied [ID]

value: BRCA1

component

code: Cytogenetic (chromosome) location

value: 17q21.31