Package | hl7.fhir.uv.genomics-reporting |
Type | ConceptMap |
Id | dna-change-type-map |
FHIR Version | R4 |
Source | http://hl7.org/fhir/uv/genomics-reporting/https://build.fhir.org/ig/HL7/genomics-reporting/ConceptMap-dna-change-type-map.html |
URL | http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type-map |
Version | 4.0.0-ballot |
Status | draft |
Date | 2025-06-24T17:31:37+00:00 |
Name | DNAChangeType |
Title | DNA Change Type Map |
Realm | uv |
Authority | hl7 |
Description | LOINC and SequenceOntology mappings for dna change type |
Copyright | 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. |
No resources found
CodeSystem | |
loinc.org | LOINC Code System |
www.sequenceontology.org | Sequence Ontology |
loinc.org | LOINC codes used in this IG |
www.sequenceontology.org | Sequence Ontology |
loinc.org | Logical Observation Identifiers, Names and Codes (LOINC) |
ValueSet | |
dna-change-type-vs | DNA Change Type |
Note: links and images are rebased to the (stated) source
Generated Narrative: ConceptMap dna-change-type-map
Mapping from LOINCAnswerListLL379_9 to DNA Change Type
Group 1 Mapping from Logical Observation Identifiers, Names and Codes (LOINC) to 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) |
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) |
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