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 and changes regularly. See the Directory of published versions

Example Observation: NTHL1-snv-disease

Generated Narrative: Observation

ResourceObservation "NTHL1-snv-disease"

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/somaticPatient " HAMSBURG"

effective: 2023-02-01

performer: Practitioner/pathologistPractitioner " DOLIN"

derivedFrom: Observation/NTHL1-snv-var


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

value: Pathogenic (LOINC#LA6668-3)


code: Associated phenotype (LOINC#81259-4)

value: Hereditary cancer-predisposing syndrome (SNOWMED CT#699346009 "Hereditary cancer-predisposing syndrome (disorder)")