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
Generated Narrative: Observation
Resource Observation "ISCN-CMLExample"
Profile: Variant
status: final
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic var assess (LOINC#69548-6)
subject: Patient/CGPatientExample01 " EVERYMAN"
effective: 2019-04-01
performer: Organization/ExampleOrg "some lab"
value: Present (LOINC#LA9633-4)
Code | Value[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)) |