| Source | hl7.fhir.uv.genomics-reporting#current:Genomics Reporting Implementation Guide (v4.0.1) |
| resourceType | ConceptMap |
| id | dna-change-type-map |
| canonical | http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type-map |
| version | 2.1.0-SNAPSHOT |
| status | draft |
| publisher | HL7 Clinical Genomics Working Group |
| name | DNAChangeType |
| title | DNA Change Type Map |
| date | 2023-07-25T14:43:25+00:00 |
| experimental | false |
| 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. |
| jurisdictions | uv |
| sourceScope | http://loinc.org/vs/LL379-9 |
| targetScope | http://sequenceontology.org |
| sources | http://loinc.org |
| targets | http://sequenceontology.org |
| Usages | (none) |
Mapping from http://loinc.org/vs/LL379-9 to http://sequenceontology.org
DRAFT. Published on 2023-07-25T14:43:25Z 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
Group 1
Mapping from LOINC Code System
to http://sequenceontology.org
| 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) |
Produced 08 Sep 2023