Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

Example Observation: NTHL1-snv-molc

Generated Narrative: Observation

ResourceObservation "NTHL1-snv-molc"

Profile: Molecular Consequence

status: final

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Molecular Consequence (To Be Determined Codes#molecular-consequence)

subject: Patient/CGPatientExample01 " EVERYMAN"

effective: 2023-02-01

performer: Practitioner/pathologistPractitioner " DOLIN"

derivedFrom: Observation/NTHL1-snv-var

component

code: coding HGVS (LOINC#48004-6)

value: NM_002528.7:c.728G>A (Human Genome Variation Society nomenclature#NM_002528.7:c.728G>A)

component

code: Feature Consequence (To Be Determined Codes#feature-consequence)

value: nonsense codon (sequenceontology.org#SO:0001587 "stop_gained")

component

code: Amino acid change (pHGVS) (LOINC#48005-3)

value: NP_002519.2:p.Trp243Ter (Human Genome Variation Society nomenclature#NP_002519.2:p.Trp243Ter)