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

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