Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild 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: 4.0.0-cibuild
Standards status: Trial-use | Maturity Level: 2 | 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

Mapping from LOINC Answer Codes for LL379-9 to DNA Change Type

Group 1 Mapping from Logical Observation Identifiers, Names and Codes (LOINC) to Sequence Ontology

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