GenomeX Data Exchange FHIR IG
0.2.0 - draft
GenomeX Data Exchange FHIR IG, published by MITRE. This guide is not an authorized publication; it is the continuous build for version 0.2.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/CodeX-HL7-FHIR-Accelerator/GenomeX-DataExchange/ and changes regularly. See the Directory of published versions
Generated Narrative: Observation PrenatalVariant1SNPAlpha1ADPatientMale
version: 1; Last updated: 2024-09-25 00:01:34+0000;
Information Source: #hrQE3dHjuHuJ5zkf
Profile: Variant
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
effective: 2024-07-09
performer: Practitioner PractitionerJane Smith
value: Present
method: Sequencing
component
code: Genetic variation clinical significance [Imp]
value: Pathogenic
component
code: Genomic source class [Type]
value: Germline
component
code: Variant category
value: Simple variant
component
code: Allelic state
value: Heterozygous
component
code: DNA change (c.HGVS)
value: NM_000295.4(SERPINA1):c.1096G>A(E366K, aka Z allele) heterozygote
component
code: Transcript reference sequence [ID]
value: NM_000295.4
component
code: DNA change type
value: Substitution
component
code: Genomic reference sequence identifier
value: NM_000295.4
component
code: Gene studied [ID]
value: SERPINA1