Genomics Reporting Implementation Guide
1.1.0 - Ballot

This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 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

ConceptMap: Concept mapping for DNA Change Type

Formats: XML, JSON, Turtle

DNAChangeType (http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type-map)

Mapping from http://loinc.org to http://www.sequenceontology.org

DRAFT. Published on Apr 13, 2021 7:13:37 PM by HL7 International Clinical Genomics Work Group (http://www.hl7.org/Special/com...). This material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc.

LOINC and SequenceOntology mappings for dna change type


Source CodeRelationshipDestination Code
LA9658-1 (Wild type)is equivalent toSO:0002073
LA6692-3 (Deletion)is equivalent toSO:0000159
LA6686-5 (Duplication)is equivalent toSO:1000035
LA6687-3 (Insertion)is equivalent toSO:0000667
LA6688-1 (Insertion/Deletion)is equivalent toSO:1000032
LA6689-9 (Inversion)is equivalent toSO:1000036
LA6690-7 (Substitution)is equivalent toSO:1000002