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

ConceptMap: DNA Change Type Map

Official URL: http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type-map Version: 3.0.1-SNAPSHOT
Draft as of 2024-07-15 Computable Name: DNAChangeType

Copyright/Legal: 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

Generated Narrative: ConceptMap dna-change-type-map

Mapping from http://loinc.org/vs/LL379-9 to http://sequenceontology.org

DRAFT. Published on 2024-07-15 14:36:15+0000 by HL7 International / Clinical Genomics (HL7 International / Clinical Genomics: http://www.hl7.org/Special/com..., cg@lists.HL7.org). 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


Group 1 Mapping from Logical Observation Identifiers, Names and Codes (LOINC) to http://sequenceontology.org

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