Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

Example Observation: NTHL1-snv-disease

Generated Narrative: Observation

Resource Observation "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

component

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

value: Pathogenic (LOINC#LA6668-3)

component

code: Associated phenotype (LOINC#81259-4)

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