[ { "phenotype_id": "PH321", "phenotype_version_id": 642, "name": "Thrombophilia", "definition": "At the specified date, a patient is defined as having had 'Thrombophilia' IF they meet the criteria for any of the following on or before the specified date. The earliest date on which the individual meets any of the following criteria on or before the specified date is defined as the first event date:\n\n\nPrimary care\n\n\n1. 'Thrombophilia' diagnosis or history of diagnosis during a consultation \n\nOR\nSecondary care (ICD10)\n\n\n1. ALL diagnoses of 'Thrombophilia' or history of diagnosis during a hospitalization\n\n\n\n\n\n\n\n\n\n\n\n\n", "implementation": "", "publications": [ { "doi": "10.1016/S2589-7500(19)30012-3", "details": "Kuan V., Denaxas S., Gonzalez-Izquierdo A. et al. A chronological map of 308 physical and mental health conditions from 4 million individuals in the National Health Service. The Lancet Digital Health - DOI 10.1016/S2589-7500(19)30012-3" } ], "validation": "", "citation_requirements": "", "created": "2021-10-06T16:12:44.381348Z", "author": "Kuan V, Denaxas S, Gonzalez-Izquierdo A, Direk K, Bhatti O, Husain S, Sutaria S, Hingorani M, Nitsch D, Parisinos C, Lumbers T, Mathur R, Sofat R, Casas JP, Wong I, Hemingway H, Hingorani A", "collections": [ { "name": "CALIBER", "value": 21 }, { "name": "Phenotype Library", "value": 18 } ], "tags": null, "organisation": null, "world_access": 1, "updated": "2021-10-06T16:12:44.381376Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "ontology": null, "phenoflowid": "https://kclhi.org/phenoflow/workflows/github.com/phenoflow/Thrombophilia---a0ae5660-17c9-11ef-9de4-4d4ea830ad16/blob/read-potential-cases-fhir/Thrombophilia.cwl", "data_sources": [ { "name": "CPRD GOLD", "value": 5, "uid": "a29feafa-7bdd-44e9-b977-c9d26425e67f", "url": "https://healthdatagateway.org/en/dataset/694", "datasource_id": 694 }, { "name": "HES Admitted Patient Care data for CPRD GOLD", "value": 9, "uid": "4bcf64a6-f404-4ef4-ae6e-172512ab5f43", "url": "https://healthdatagateway.org/en/dataset/674", "datasource_id": 674 } ], "coding_system": [ { "name": "ICD10 codes", "value": 4 }, { "name": "Read codes v2", "value": 5 }, { "name": "Med codes", "value": 8 } ], "event_date_range": "01/01/1999 - 01/07/2016", "concept_information": [ { "concept_id": 1606, "concept_version_id": 4351, "concept_name": "Thrombophilia - Primary care", "coding_system": { "id": 5, "name": "Read codes v2", "description": "Read codes v2" }, "phenotype_id": "PH321", "phenotype_version_id": 642, "phenotype_name": "Thrombophilia", "code_attribute_header": [ "Disease", "Medcode", "Category" ], "codes": [ { "code": "42jH.00", "description": "Activated protein C with factor V deficient plasma", "attributes": { "Disease": "Thrombophilia", "Medcode": "30873.0", "Category": "Diagnosis of Thrombophilia" } }, { "code": "42Qc.00", "description": "Plasma activated protein C resistance", "attributes": { "Disease": "Thrombophilia", "Medcode": "23134.0", "Category": "Diagnosis of Thrombophilia" } }, { "code": "42Qe.00", "description": "Factor V Leiden genotype", "attributes": { "Disease": "Thrombophilia", "Medcode": "8674.0", "Category": "Diagnosis of Thrombophilia" } }, { "code": "43GE100", "description": "Lupus anticoagulant positive", "attributes": { "Disease": "Thrombophilia", "Medcode": "107447.0", "Category": "Diagnosis of Thrombophilia" } }, { "code": "D303700", "description": "Factor V Leiden mutation", "attributes": { "Disease": "Thrombophilia", "Medcode": "25971.0", "Category": "Diagnosis of Thrombophilia" } }, { "code": "D303800", "description": "Homozygous factor V Leiden mutation", "attributes": { "Disease": "Thrombophilia", "Medcode": "44146.0", "Category": "Diagnosis of Thrombophilia" } }, { "code": "D303900", "description": "Heterozygous factor V Leiden mutation", "attributes": { "Disease": "Thrombophilia", "Medcode": "32933.0", "Category": "Diagnosis of Thrombophilia" } }, { "code": "D309.00", "description": "Protein S deficiency", "attributes": { "Disease": "Thrombophilia", "Medcode": "8479.0", "Category": "Diagnosis of Thrombophilia" } }, { "code": "D30A.00", "description": "Thrombophilia", "attributes": { "Disease": "Thrombophilia", "Medcode": "7516.0", "Category": "Diagnosis of Thrombophilia" } }, { "code": "D30A000", "description": "Primary thrombophilia", "attributes": { "Disease": "Thrombophilia", "Medcode": "105875.0", "Category": "Diagnosis of Thrombophilia" } }, { "code": "D30B.00", "description": "Protein C deficiency", "attributes": { "Disease": "Thrombophilia", "Medcode": "26102.0", "Category": "Diagnosis of Thrombophilia" } }, { "code": "N006.00", "description": "Antiphospholipid syndrome", "attributes": { "Disease": "Thrombophilia", "Medcode": "12177.0", "Category": "Diagnosis of Thrombophilia" } } ] }, { "concept_id": 1607, "concept_version_id": 4353, "concept_name": "Thrombophilia - Primary care", "coding_system": { "id": 8, "name": "Med codes", "description": "Med codes" }, "phenotype_id": "PH321", "phenotype_version_id": 642, "phenotype_name": "Thrombophilia", "code_attribute_header": [ "Disease", "ReadcodeDescr", "Readcode" ], "codes": [ { "code": "105875.0", "description": "Diagnosis of Thrombophilia", "attributes": { "Disease": "Thrombophilia", "ReadcodeDescr": "Primary thrombophilia", "Readcode": "D30A000" } }, { "code": "107447.0", "description": "Diagnosis of Thrombophilia", "attributes": { "Disease": "Thrombophilia", "ReadcodeDescr": "Lupus anticoagulant positive", "Readcode": "43GE100" } }, { "code": "12177.0", "description": "Diagnosis of Thrombophilia", "attributes": { "Disease": "Thrombophilia", "ReadcodeDescr": "Antiphospholipid syndrome", "Readcode": "N006.00" } }, { "code": "23134.0", "description": "Diagnosis of Thrombophilia", "attributes": { "Disease": "Thrombophilia", "ReadcodeDescr": "Plasma activated protein C resistance", "Readcode": "42Qc.00" } }, { "code": "25971.0", "description": "Diagnosis of Thrombophilia", "attributes": { "Disease": "Thrombophilia", "ReadcodeDescr": "Factor V Leiden mutation", "Readcode": "D303700" } }, { "code": "26102.0", "description": "Diagnosis of Thrombophilia", "attributes": { "Disease": "Thrombophilia", "ReadcodeDescr": "Protein C deficiency", "Readcode": "D30B.00" } }, { "code": "30873.0", "description": "Diagnosis of Thrombophilia", "attributes": { "Disease": "Thrombophilia", "ReadcodeDescr": "Activated protein C with factor V deficient plasma", "Readcode": "42jH.00" } }, { "code": "32933.0", "description": "Diagnosis of Thrombophilia", "attributes": { "Disease": "Thrombophilia", "ReadcodeDescr": "Heterozygous factor V Leiden mutation", "Readcode": "D303900" } }, { "code": "44146.0", "description": "Diagnosis of Thrombophilia", "attributes": { "Disease": "Thrombophilia", "ReadcodeDescr": "Homozygous factor V Leiden mutation", "Readcode": "D303800" } }, { "code": "7516.0", "description": "Diagnosis of Thrombophilia", "attributes": { "Disease": "Thrombophilia", "ReadcodeDescr": "Thrombophilia", "Readcode": "D30A.00" } }, { "code": "8479.0", "description": "Diagnosis of Thrombophilia", "attributes": { "Disease": "Thrombophilia", "ReadcodeDescr": "Protein S deficiency", "Readcode": "D309.00" } }, { "code": "8674.0", "description": "Diagnosis of Thrombophilia", "attributes": { "Disease": "Thrombophilia", "ReadcodeDescr": "Factor V Leiden genotype", "Readcode": "42Qe.00" } } ] }, { "concept_id": 1608, "concept_version_id": 4355, "concept_name": "Thrombophilia - Secondary care - Diagnoses", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH321", "phenotype_version_id": 642, "phenotype_name": "Thrombophilia", "code_attribute_header": [ "Disease", "Category" ], "codes": [ { "code": "D68.5", "description": "Primary Thrombophilia", "attributes": { "Disease": "Thrombophilia", "Category": "Diagnosis of Thrombophilia" } }, { "code": "D68.6", "description": "Other Thrombophilia", "attributes": { "Disease": "Thrombophilia", "Category": "Diagnosis of Thrombophilia" } } ] } ], "status": 2, "doi": "https://doi.org/10.48533/j23b-qt47", "is_deleted": null, "publish_status": 2, "owner": "ieuan.scanlon", "template": { "id": 1, "name": "Clinical-Coded Phenotype", "description": "Phenotype definitions that are based on lists of clinical codes, or algorithms using clinical codes.", "version_id": 1 }, "versions": [ { "version_id": 642, "version_name": "Thrombophilia", "version_date": "2021-10-06T16:12:44.409710Z", "is_published": true, "is_latest": true } ] } ]