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FHIR Osiris Implementation Guide
1.1.0 - trial-implementation

This page is part of the OSIRIS FHIR Implementation Guide (v1.1.0: 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

Example Observation: fhir-osiris-example-snp-1

Generated Narrative: Observation fhir-osiris-example-snp-1

Strand bias: false

status: Final

category: Laboratory

code: Genetic variant assessment

subject: Patient Anonyme Male, Date de Naissance :1967-11-08

value: Present

derivedFrom: Observation Omic

component

code: Human reference sequence assembly version

value: hg19

component

code: DNA change type

value: Substitution

component

code: Genomic source class [Type]

value: Somatic

component

code: Allelic read depth

value: 31

component

code: Genomic ref allele [ID]

value: T

component

code: Genomic alt allele [ID]

value: A

component

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

value: Chromosome 3

component

code: Genetic variant details

value: 6

component

code: Genomic allele start-end

value: 178916948-178916948

component

code: Allelic state

value: Heterozygous