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: ATR-insertion-significance

Generated Narrative: Observation

ResourceObservation "ATR-insertion-significance"

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/ATR-insertion-var

component

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

value: Likely Pathogenic (LOINC#LA26332-9)

component

Related Artifact for Observation component:

code: Level of evidence (LOINC#93044-6)

value: Tier 2C ()

component

Related Artifact for Observation component:

code: Conclusion Text (To Be Determined Codes#conclusion-string)

value: The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved ... more

component

Related Artifact for Observation component:

code: Level of evidence (LOINC#93044-6)

value: Tier 2C ()