{ "description": "LOINC and SequenceOntology mappings for dna change type", "sourceCanonical": "http://loinc.org/vs/LL379-9", "_filename": "ConceptMap-dna-change-type-map.json", "package_name": "hl7.fhir.uv.genomics-reporting", "date": "2024-12-12T20:43:36+00:00", "group": [ { "source": "http://loinc.org", "target": "http://www.sequenceontology.org", "element": [ { "code": "LA9658-1", "target": [ { "code": "SO:0002073", "display": "no_sequence_alteration", "equivalence": "equivalent" } ], "display": "Wild type" }, { "code": "LA6692-3", "target": [ { "code": "SO:0000159", "display": "deletion", "equivalence": "equivalent" } ], "display": "Deletion" }, { "code": "LA6686-5", "target": [ { "code": "SO:1000035", "display": "duplication", "equivalence": "equivalent" } ], "display": "Duplication" }, { "code": "LA6687-3", "target": [ { "code": "SO:0000667", "display": "insertion", "equivalence": "equivalent" } ], "display": "Insertion" }, { "code": "LA6688-1", "target": [ { "code": "SO:1000032", "display": "delins", "equivalence": "equivalent" } ], "display": "Insertion/Deletion" }, { "code": "LA6689-9", "target": [ { "code": "SO:1000036", "display": "inversion", "equivalence": "equivalent" } ], "display": "Inversion" }, { "code": "LA6690-7", "target": [ { "code": "SO:1000002", "display": "substitution", "equivalence": "equivalent" } ], "display": "Substitution" } ] } ], "publisher": "HL7 International / Clinical Genomics", "jurisdiction": [ { "coding": [ { "code": "001", "system": "http://unstats.un.org/unsd/methods/m49/m49.htm", "display": "World" } ] } ], "name": "DNAChangeType", "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.", "type": null, "experimental": "false", "resourceType": "ConceptMap", "title": "DNA Change Type Map", "package_version": "3.0.0", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg", "valueCode": "cg" } ], "targetCanonical": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs", "status": "draft", "id": "40c72ed1-c5f6-402c-92bd-5cb97e12adb8", "kind": null, "url": "http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type-map", "version": "3.0.0", "contact": [ { "name": "HL7 International / Clinical Genomics", "telecom": [ { "value": "http://www.hl7.org/Special/committees/clingenomics", "system": "url" }, { "value": "cg@lists.HL7.org", "system": "email" } ] } ] }