DNA Change Type Map - Genomics Reporting Implementation Guide v4.0.0-cibuild

Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build 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 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 and SequenceOntology mappings for DNA change type

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

Group 1 Mapping from http://loinc.org (Logical Observation Identifier Names and Codes (LOINC)) to http://www.sequenceontology.org (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)