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: obs-idh-ex

Generated Narrative: Observation

ResourceObservation "obs-idh-ex"

Profile: Diagnostic Implication

status: final

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

code: Diagnostic Implication (To Be Determined Codes#diagnostic-implication)

subject: Patient/HG00403 " EVERYONE"

effective: 2023-06-01

performer: Organization/ExampleLab "Some lab"

derivedFrom: Observation/SNVexample

component

Related Artifact for Observation component:

code: Genetic variation clinical significance [Imp] (LOINC#53037-8)

value: Pathogenic (LOINC#LA6668-3)

component

code: Associated phenotype (LOINC#81259-4)

value: Cystic fibrosis (Mondo Disease Ontology#MONDO:0009061 "cystic fibrosis")

component

code: Condition Inheritance (To Be Determined Codes#condition-inheritance)

value: Autosomal recessive inheritance (Human Phenotype Ontology#HP:0000007)