Genomics Reporting Implementation Guide
4.0.0-ballot - STU 4 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 4.0.0-ballot 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-ballot
Standards status: Trial-use Maturity Level: 2 Computable Name: DNAChangeType

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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 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)