[ { "phenotype_id": "PH4147", "phenotype_version_id": 9365, "name": "Collapsed vertebra", "definition": "A compression fracture is a collapse of a vertebra. It may be due to trauma or due to a weakening of the vertebra.\n\nUKB baseline self reported fields.\n", "implementation": "The earliest record across all sources is obtained.\n", "publications": [ { "doi": "https://doi.org/10.1038/s41598-025-05838-9", "details": "Torralbo, Ana and Davitte, Jonathan M. and Croteau-Chonka, Damien C. and Ytsma, Cai R. and Tomlinson, Christopher and Fitzpatrick, Natalie and Chung, Sheng-Chia and Fatemifar, Ghazaleh and Cortes, Adrian S. and Richardson, Tom G. and Barclay, Matthew and Carrasco Zanini Sanchez, Julia and Finan, Chris and Hemingway, Harry and Hingorani, Aroon D. and Kuan Po Ai, Valerie and Langenberg, Claudia and Lyratzopoulos, Georgios and Lumbers, Tom and Pietzner, Maik and Shah, Anoop Dinesh and Thygesen, Johan Hilge and Zelenka, Natalie and Whittaker, John C. and Ehm, Margaret G. and Denaxas, Spiros, A Computational Framework for Defining and Validating Reproducible Phenotyping Algorithms of 313 Diseases in the UK Biobank.", "primary": true } ], "validation": "Phenotypes underwent a multi\\-layered validation approach that included a) evaluating data source concordance, b) age\\-sex incidence and baseline prevalence patterns, c) an external comparison to a representative and unselected UK EHR dataset, d) modifiable risk factor associations, and e) genetic correlations with external genome\\-wide association studies (GWAS). Results showed consistent disease distributions by age and sex, high ranked correlation with general population prevalence estimates, confirmed risk factor associations, and significant genetic correlations with external GWAS.\n", "citation_requirements": null, "created": "2026-06-08T20:08:12.238598Z", "author": "Torralbo, A; Davitte, J M; Croteau-Chonka, D C; Ytsma, C; Tomlinson, C; Fitzpatrick, N K; Chung, S C; Fatemifar, G; Cortes, A S; Richardson, T G; Barclay, M; Carrasco Zanini, J; Finan, C; Hemingway, H; Hingorani, A; Kuan, V; Langenberg, C; Lyratzopoulos, G; Lumbers, R T; Pietzner, M; Shah, A D; Thygesen, J H; Zelenka, N; Whittaker, J C; Ehm, M G; Denaxas, S", "collections": [ { "name": "Phenotype Library", "value": 18 }, { "name": "UK Biobank", "value": 32 } ], "tags": null, "organisation": null, "world_access": 1, "updated": "2026-06-08T20:08:12.234159Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Collapse of vertebra (disorder)", "value": 773180 } ], "phenoflowid": null, "data_sources": [ { "name": "UK Biobank", "value": 13, "uid": "6a9f93ad-2434-41d9-93bf-6e9d2eee04e5", "url": "https://healthdatagateway.org/en/dataset/700", "datasource_id": 700 }, { "name": "Patient Episode Dataset for Wales (PEDW)", "value": 40, "uid": "4c33a5d2-164c-41d7-9797-dc2b008cc852", "url": "https://healthdatagateway.org/en/dataset/318", "datasource_id": 318 }, { "name": "Scottish Cancer Registry (SMR06)", "value": 417, "uid": "ad36dc03-1856-44de-99b0-1af6f312d86b", "url": "https://healthdatagateway.org/en/dataset/79", "datasource_id": 79 }, { "name": "Cancer Registration Data", "value": 788, "uid": "6904a2ff-ab44-4dd6-b9ec-25d3cad29e43", "url": "https://healthdatagateway.org/en/dataset/880", "datasource_id": 880 } ], "endorsements": null, "project_name": null, "coding_system": [ { "name": "UKBioBank codes", "value": 12 }, { "name": "ICD10 codes", "value": 4 }, { "name": "Read codes v3", "value": 6 }, { "name": "OPCS4 codes", "value": 7 } ], "corresp_author": "Ana Torralbo", "event_date_range": null, "concept_information": [ { "concept_id": 9911, "concept_version_id": 17396, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4147", "phenotype_version_id": 9365, "phenotype_name": "Collapsed vertebra", "code_attribute_header": [ "type" ], "codes": [ { "code": "1646", "description": "facture vertebra/crush fracture/vertebral collapse", "attributes": { "type": "any" } } ] }, { "concept_id": 9912, "concept_version_id": 17397, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4147", "phenotype_version_id": 9365, "phenotype_name": "Collapsed vertebra", "code_attribute_header": [ "type" ], "codes": [ { "code": "M48.5", "description": "Collapsed vertebra, not elsewhere classified", "attributes": { "type": "any" } }, { "code": "M49.5", "description": "Collapsed vertebra in diseases classified elsewhere", "attributes": { "type": "any" } } ] }, { "concept_id": 9913, "concept_version_id": 17398, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4147", "phenotype_version_id": 9365, "phenotype_name": "Collapsed vertebra", "code_attribute_header": [ "type" ], "codes": [ { "code": "M48.5", "description": "Collapsed vertebra, not elsewhere classified", "attributes": { "type": "any" } }, { "code": "M49.5", "description": "Collapsed vertebra in diseases classified elsewhere", "attributes": { "type": "any" } } ] }, { "concept_id": 9914, "concept_version_id": 17399, "concept_name": "Operative procedures - main OPCS4", "coding_system": { "id": 7, "name": "OPCS4 codes", "description": "OPCS4 codes" }, "phenotype_id": "PH4147", "phenotype_version_id": 9365, "phenotype_name": "Collapsed vertebra", "code_attribute_header": [ "type" ], "codes": [ { "code": "V44", "description": "Decompression of fracture of spine", "attributes": { "type": "any" } }, { "code": "V44.1", "description": "Complex decompression of fracture of spine", "attributes": { "type": "any" } }, { "code": "V44.2", "description": "Anterior decompression of fracture of spine", "attributes": { "type": "any" } }, { "code": "V44.3", "description": "Posterior decompression of fracture of spine NEC", "attributes": { "type": "any" } }, { "code": "V44.4", "description": "Vertebroplasty of fracture of spine", "attributes": { "type": "any" } }, { "code": "V44.5", "description": "Balloon kyphoplasty of fracture of spine", "attributes": { "type": "any" } }, { "code": "V44.8", "description": "Other specified decompression of fracture of spine", "attributes": { "type": "any" } }, { "code": "V44.9", "description": "Unspecified decompression of fracture of spine", "attributes": { "type": "any" } } ] }, { "concept_id": 9915, "concept_version_id": 17400, "concept_name": "Operative procedures - secondary OPCS4", "coding_system": { "id": 7, "name": "OPCS4 codes", "description": "OPCS4 codes" }, "phenotype_id": "PH4147", "phenotype_version_id": 9365, "phenotype_name": "Collapsed vertebra", "code_attribute_header": [ "type" ], "codes": [ { "code": "V44", "description": "V44", "attributes": { "type": "any" } }, { "code": "V44.1", "description": "V44.1", "attributes": { "type": "any" } }, { "code": "V44.2", "description": "V44.2", "attributes": { "type": "any" } }, { "code": "V44.3", "description": "V44.3", "attributes": { "type": "any" } }, { "code": "V44.4", "description": "V44.4", "attributes": { "type": "any" } }, { "code": "V44.5", "description": "V44.5", "attributes": { "type": "any" } }, { "code": "V44.8", "description": "V44.8", "attributes": { "type": "any" } }, { "code": "V44.9", "description": "V44.9", "attributes": { "type": "any" } } ] }, { "concept_id": 9916, "concept_version_id": 17401, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4147", "phenotype_version_id": 9365, "phenotype_name": "Collapsed vertebra", "code_attribute_header": [ "type" ], "codes": [ { "code": "M48.5", "description": "Collapsed vertebra, not elsewhere classified", "attributes": { "type": "any" } }, { "code": "M49.5", "description": "Collapsed vertebra in diseases classified elsewhere", "attributes": { "type": "any" } } ] }, { "concept_id": 9917, "concept_version_id": 17402, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4147", "phenotype_version_id": 9365, "phenotype_name": "Collapsed vertebra", "code_attribute_header": [ "type" ], "codes": [ { "code": "M48.5", "description": "Collapsed vertebra, not elsewhere classified", "attributes": { "type": "any" } }, { "code": "M49.5", "description": "Collapsed vertebra in diseases classified elsewhere", "attributes": { "type": "any" } } ] }, { "concept_id": 9918, "concept_version_id": 17403, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4147", "phenotype_version_id": 9365, "phenotype_name": "Collapsed vertebra", "code_attribute_header": [ "type" ], "codes": [ { "code": "7J41300", "description": "Vertebroplasty of fracture of spine", "attributes": { "type": "any" } }, { "code": "7J41500", "description": "Balloon kyphoplasty of fracture of spine", "attributes": { "type": "any" } }, { "code": "7J48M00", "description": "Vertebroplasty", "attributes": { "type": "any" } }, { "code": "N331000", "description": "Pathological fracture of thoracic vertebra", "attributes": { "type": "any" } }, { "code": "N331011", "description": "Collapse of thoracic vertebra", "attributes": { "type": "any" } }, { "code": "N331100", "description": "Pathological fracture of lumbar vertebra", "attributes": { "type": "any" } }, { "code": "N331.11", "description": "Collapse of spine NOS", "attributes": { "type": "any" } }, { "code": "N331111", "description": "Collapse of lumbar vertebra", "attributes": { "type": "any" } }, { "code": "N331.12", "description": "Collapse of vertebra NOS", "attributes": { "type": "any" } }, { "code": "N331.14", "description": "Osteoporotic vertebral collapse", "attributes": { "type": "any" } }, { "code": "N331800", "description": "Osteoporosis + pathological fracture lumbar vertebrae", "attributes": { "type": "any" } }, { "code": "N331900", "description": "Osteoporosis + pathological fracture thoracic vertebrae", "attributes": { "type": "any" } }, { "code": "N331A00", "description": "Osteoporosis + pathological fracture cervical vertebrae", "attributes": { "type": "any" } }, { "code": "N331C00", "description": "Pathological fracture of cervical vertebra", "attributes": { "type": "any" } }, { "code": "N331D00", "description": "Collapsed vertebra NOS", "attributes": { "type": "any" } }, { "code": "N331E00", "description": "Collapse of cervical vertebra", "attributes": { "type": "any" } }, { "code": "N331F00", "description": "Collapse of thoracic vertebra", "attributes": { "type": "any" } }, { "code": "N331G00", "description": "Collapse of lumbar vertebra", "attributes": { "type": "any" } }, { "code": "N331H00", "description": "Collapse of cervical vertebra due to osteoporosis", "attributes": { "type": "any" } }, { "code": "N331J00", "description": "Collapse of lumbar vertebra due to osteoporosis", "attributes": { "type": "any" } }, { "code": "N331K00", "description": "Collapse of thoracic vertebra due to osteoporosis", "attributes": { "type": "any" } }, { "code": "N331L00", "description": "Collapse of vertebra due to osteoporosis NOS", "attributes": { "type": "any" } }, { "code": "Nyu6700", "description": "[X]Collapsed vertebra in diseases classified elsewhere", "attributes": { "type": "any" } }, { "code": "S100H00", "description": "Closed fracture cervical vertebra, wedge", "attributes": { "type": "any" } }, { "code": "S102100", "description": "Closed fracture thoracic vertebra, wedge", "attributes": { "type": "any" } }, { "code": "S104100", "description": "Closed fracture lumbar vertebra, wedge", "attributes": { "type": "any" } }, { "code": "S106000", "description": "Closed compression fracture sacrum", "attributes": { "type": "any" } }, { "code": "XaBMQ", "description": "Pathological fracture of cervical vertebra", "attributes": { "type": "any" } }, { "code": "XaBMR", "description": "Collapsed vertebra NOS", "attributes": { "type": "any" } }, { "code": "XaBZR", "description": "Collapse of thoracic vertebra", "attributes": { "type": "any" } }, { "code": "XaBZS", "description": "Collapse of cervical vertebra", "attributes": { "type": "any" } }, { "code": "XaBZT", "description": "Collapse of lumbar vertebra", "attributes": { "type": "any" } }, { "code": "XaD2s", "description": "Collapse of cervical vertebra due to osteoporosis", "attributes": { "type": "any" } }, { "code": "XaD4I", "description": "Collapse of lumbar vertebra due to osteoporosis", "attributes": { "type": "any" } }, { "code": "XaD4J", "description": "Collapse of thoracic vertebra due to osteoporosis", "attributes": { "type": "any" } }, { "code": "XaD4K", "description": "Collapse of vertebra due to osteoporosis NOS", "attributes": { "type": "any" } }, { "code": "XaIuu", "description": "Vertebroplasty", "attributes": { "type": "any" } }, { "code": "XaLxr", "description": "Vertebroplasty of fracture of spine", "attributes": { "type": "any" } }, { "code": "XaMpT", "description": "Balloon kyphoplasty of fracture of spine", "attributes": { "type": "any" } }, { "code": "XE1GB", "description": "Pathological fracture", "attributes": { "type": "any" } }, { "code": "XE2Qe", "description": "Pathological fracture of thoracic vertebra", "attributes": { "type": "any" } }, { "code": "XE2Qf", "description": "Pathological fracture of lumbar vertebra", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/qd3e-x156", "is_deleted": false, "publish_status": 2, "owner": "ieuan.scanlon", "template": { "id": 2, "name": "BHF Data Science Centre Phenotype", "description": "BHF Data Science Centre Phenotype definitions that describe a list of clinical codes, algorithms using clinical codes, or set of clinical trials. Visit the BHF Data Science Centre website to learn more: https://bhfdatasciencecentre.org", "version_id": 1 }, "versions": [ { "version_id": 9365, "version_name": "Collapsed vertebra", "version_date": "2026-06-08T20:08:12.247492Z", "is_published": true, "is_latest": true } ] } ]