NCPI FHIR Implementation Guide
0.1.0 - ci-build

NCPI FHIR Implementation Guide - Local Development build (v0.1.0). See the Directory of published versions

Example Observation: variant-example-1

Generated Narrative: Observation

Resource Observation "variant-example-1"

status: final

category: Laboratory (Observation Category Codes#laboratory)

code: Genetic variant assessment (LOINC#69548-6)

value: Present (LOINC#LA9633-4)

method: Sequencing (LOINC#LA26398-0)

specimen: Specimen/specimen-example-1: Specimen

component

code: Gene studied ID (LOINC#48018-6)

value: HGNC:6518 (gene#LBR)

component

code: Cytogenetic (chromosome) location (LOINC#48001-2)

value: Chr1 (loinc-answers#LA21254-0)

component

code: Variant exact start and end (ToBeDeterminedCodes ('TbdCodes')#exact-start-end)

value: 225592153-?

component

code: Genomic ref allele [ID] (LOINC#69547-8)

value: T

component

code: Genomic alt allele [ID] (LOINC#69551-0)

value: C

component

code: Allelic state (LOINC#53034-5)

value: Heterozygous (LOINC#LA6706-1)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Transcript reference sequence [ID] (LOINC#51958-7)

value: NM_002296.3 (Gene Reference Sequence Collection#NM_002296.3)

component

code: DNA change (c.HGVS) (LOINC#48004-6)

value: c.1640A>G (Human Genome Variation Society nomenclature#c.1640A>G)