{ "description": "LOINC and SequenceOntology mappings for dna change type", "sourceCanonical": "http://loinc.org", "_filename": "ConceptMap-dna-change-type-map.json", "package_name": "hl7.fhir.uv.genomics-reporting", "date": "2021-04-13T19:13:37+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 Work Group", "jurisdiction": [ { "coding": [ { "code": "001", "system": "http://unstats.un.org/unsd/methods/m49/m49.htm" } ] } ], "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": null, "resourceType": "ConceptMap", "title": null, "package_version": "1.1.0", "targetCanonical": "http://www.sequenceontology.org", "status": "draft", "id": "76112973-61b6-4b7a-a303-ed6d401d8478", "kind": null, "url": "http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type-map", "version": "1.1.0", "contact": [ { "telecom": [ { "value": "http://www.hl7.org/Special/committees/clingenomics", "system": "url" } ] } ] }