Genomics Reporting Implementation Guide (STU1)
This page is part of the Genetic Reporting Implementation Guide (v1.0.0: STU 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions 
Format(s):
Narrative view
Mapping from http://loinc.org to http://www.sequenceontology.org
DRAFT (not intended for production usage). Published on Oct 4, 2019 12:00:00 AM by HL7 (Clinical Genomics) ().
LOINC and SequenceOntology mappings for dna change type
| Source Code | Relationship | Destination Code |
| LA9658-1 (Wild type) | equivalent | SO:0002073 |
| LA6692-3 (Deletion) | equivalent | SO:0000159 |
| LA6686-5 (Duplication) | equivalent | SO:1000035 |
| LA6687-3 (Insertion) | equivalent | SO:0000667 |
| LA6688-1 (Insertion/Deletion) | equivalent | SO:1000032 |
| LA6689-9 (Inversion) | equivalent | SO:1000036 |
| LA6690-7 (Substitution) | equivalent | SO:1000002 |
IG © 2017+ HL7 International Clinical Genomics Work Group. Package hl7.fhir.uv.genomics-reporting#1.0.0 based on FHIR 4.0.1. Generated 2019-11-20
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