Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, 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: 3.0.0
Draft as of 2024-12-12 Computable Name: DNAChangeType

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LOINC and SequenceOntology mappings for dna change type

Generated Narrative: ConceptMap dna-change-type-map

Mapping from http://loinc.org/vs/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)