MII IG 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

Example Observation: Genotyp NIPBL

English

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

status: Final

category: Laboratory, Genetics

code: Genotype display name

subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))

effective: 2022-03-16

value: NIPBL Variante c.2207del p.(Pro736Glnfs*58) (heterozygot)

method: Sequencing

specimen: Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_02; status = available; type = Blood specimen with edetic acid (specimen); receivedTime = 2021-11-24

device: Device: status = active; manufacturer = Illumina

derivedFrom: Observation Genetic variant assessment

component

code: Gene studied [ID]

value: NIPBL

component

code: Cytogenetic (chromosome) location

value: 7q34