FHIR Osiris Implementation Guide
2.1.0 - ci-build

FHIR Osiris Implementation Guide - Local Development build (v2.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

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

Generated Narrative: Observation

Resource Observation "fhir-osiris-example-snp-1"

Profile: Single Nucleotide Polymorphism

Strand bias: false

status: final

category: Laboratory (Observation Category Codes#laboratory)

code: Genetic var assess (LOINC#69548-6)

subject: Patient/L304

value: Present (LOINC#LA9633-4)

derivedFrom: Observation/fhir-osiris-example-sequencinganalysis-1

component

code: Human ref seq assembly+build (LOINC#62374-4)

value: hg19 ([not stated]#hg19)

component

code: DNA Change Type (LOINC#48019-4)

value: Substitution (LOINC#LA6690-7)

component

code: Genomic source class (LOINC#48002-0)

value: Somatic (LOINC#LA6684-0)

component

code: Allelic read depth (LOINC#82121-5)

value: 31

component

code: Ref nucleotide (LOINC#69547-8)

value: T

component

code: Alt allele (LOINC#69551-0)

value: A

component

code: Chromosome Bld/T (LOINC#48000-4)

value: Chromosome 3 (LOINC#LA21256-5)

component

code: Genetic variant details (LOINC#LP232001-0)

value: 6

component

code: Gen allele loc ID (LOINC#81254-5)

value: 178916948-178916948

component

code: Allelic state (LOINC#53034-5)

value: Heterozygous (LOINC#LA6706-1)