MII IG Kerndatensatz-Modul Molekulares Tumorboard
2027.0.0-ballot.1 - Germany

This page is part of the MII Implementation Guide Molecular Tumor Board (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: Beispiel fuer Copy Number Variant

German

Profile: MII PR MTB Copy Number Variant version: 2027.0.0-ballot.1

status: Final

category: Laboratory, Genetik

code: Genetic variant assessment

subject: Maxim Muster (no stated gender), DoB Unknown

component

code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method

value: Chromosome 17

component

code: Genomic allele start-end

value: 43044295-43125364

component

code: Genomic structural variant copy number

value: 3 1 (Details: UCUM code1 = '1')

component

code: Relative Copy Number of Allele A and B

value: 1.5 1 (Details: UCUM code1 = '1')

component

code: Copy Number of Allele B

value: 1 1 (Details: UCUM code1 = '1')

component

code: Copy Number of Allele A

value: 2 1 (Details: UCUM code1 = '1')

component

code: Gene studied [ID]

value: BRCA1

component

code: Reported focality

value: 100 % (Details: UCUM code% = '%')

component

code: type

value: high-level-gain

component

code: Copy Number Neutral Loss of Heterozygosity

value: Yes