Genomics Reporting Implementation Guide
2.0.0 - trial-use
Genomics Reporting Implementation Guide
2.0.0 - trial-use
This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions 
Mapping from http://loinc.org/vs/LL379-9 to http://sequenceontology.org
DRAFT. Published on 2022-05-09 04:59:16+0000 by HL7 Clinical Genomics Working Group (HL7 Clinical Genomics Working Group: http://www.hl7.org/Special/com..., cg@lists.HL7.org). 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
| Source Code | Relationship | Destination Code |
Mapping from Logical Observation Identifiers, Names and Codes (LOINC) to http://sequenceontology.org | ||
| 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) |
IG © 2022+ HL7 Clinical Genomics Working Group. Package hl7.fhir.uv.genomics-reporting#2.0.0 based on FHIR 4.0.1. Generated 2022-05-09
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