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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-annotation-1

Generated Narrative: Observation fhir-osiris-annotation-1

status: Final

category: Laboratory

code: Genetic variant assessment

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

value: Present

hasMember:

derivedFrom: Observation Genetic variant assessment

component

code: DNA change type

value: O15-4

component

code: Gene studied [ID]

value: PI3K

component

code: Prediction software

value: SIFT

component

code: Prediction of the variation effect over the protein

value: 0.35

component

code: Confidence score

value: Deleterious

component

code: Cytogenetic (chromosome) location

value: exon 2

component

code: Amino acid change (pHGVS)

value: p.E542K

component

code: Amino acid change [Type]

value: Missense

component

code: Genomic DNA change (gHGVS)

value: C0439673

component

code: DNA change (c.HGVS)

value: c.1624G>A

component

code: Incidence on the transcript

value: C0439673