{ "description": "LOINC and SequenceOntology mappings for dna change type", "sourceCanonical": "http://loinc.org", "_filename": "ConceptMap-dna-change-type.json", "package_name": "hl7.fhir.uv.genomics-reporting", "date": "2019-10-04T00:00:00-04:00", "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 (Clinical Genomics)", "name": "DNAChangeType", "type": null, "experimental": "true", "resourceType": "ConceptMap", "title": null, "package_version": "1.0.0", "targetCanonical": "http://www.sequenceontology.org", "status": "draft", "id": "9ecdb940-145b-4a2c-b1d4-1ed34ee044f0", "kind": null, "url": "http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type", "version": "1.0.0", "contact": [ { "telecom": [ { "value": "https://confluence.hl7.org/display/CGW/WorkGroup+Home", "system": "other" } ] } ] }