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: ISCN-CMLExample

Generated Narrative: Observation

Resource Observation "ISCN-CMLExample"

Profile: Variant

status: final

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

code: Genetic variant assessment (LOINC#69548-6)

subject: Patient/CGPatientExample01 " EVERYMAN"

effective: 2019-04-01

performer: Organization/ExampleOrg "some lab"

value: Present (LOINC#LA9633-4)

Components

-CodeValue[x]
*Variant ISCN (LOINC#81291-7)46,XX,t(9;22)(q34;q4) (International System for Human Cytogenomic Nomenclature (ISCN)#46,XX,t(9;22)(q34;q4))