[ { "phenotype_id": "PH4365", "phenotype_version_id": 9583, "name": "Spondylosis", "definition": "Spondylosis is an umbrella term used to describe pain from degenerative conditions of the spine.\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": "2026-06-08T20:20:10.204777Z", "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": "2026-06-08T20:20:10.192722Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Spondylosis (disorder)", "value": 710035 } ], "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 } ], "corresp_author": "Ana Torralbo", "event_date_range": null, "concept_information": [ { "concept_id": 11245, "concept_version_id": 18730, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4365", "phenotype_version_id": 9583, "phenotype_name": "Spondylosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "1478", "description": "cervical spondylosis", "attributes": { "type": "any" } } ] }, { "concept_id": 11246, "concept_version_id": 18731, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4365", "phenotype_version_id": 9583, "phenotype_name": "Spondylosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "M47", "description": "Spondylosis", "attributes": { "type": "any" } }, { "code": "M47.1", "description": "Other spondylosis with myelopathy", "attributes": { "type": "any" } }, { "code": "M47.2", "description": "Other spondylosis with radiculopathy", "attributes": { "type": "any" } }, { "code": "M47.8", "description": "Other spondylosis", "attributes": { "type": "any" } }, { "code": "M47.9", "description": "Spondylosis, unspecified", "attributes": { "type": "any" } } ] }, { "concept_id": 11247, "concept_version_id": 18732, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4365", "phenotype_version_id": 9583, "phenotype_name": "Spondylosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "M47", "description": "Spondylosis", "attributes": { "type": "any" } }, { "code": "M47.1", "description": "Other spondylosis with myelopathy", "attributes": { "type": "any" } }, { "code": "M47.2", "description": "Other spondylosis with radiculopathy", "attributes": { "type": "any" } }, { "code": "M47.8", "description": "Other spondylosis", "attributes": { "type": "any" } }, { "code": "M47.9", "description": "Spondylosis, unspecified", "attributes": { "type": "any" } } ] }, { "concept_id": 11248, "concept_version_id": 18733, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4365", "phenotype_version_id": 9583, "phenotype_name": "Spondylosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "M47.1", "description": "Other spondylosis with myelopathy", "attributes": { "type": "any" } }, { "code": "M47.2", "description": "Other spondylosis with radiculopathy", "attributes": { "type": "any" } }, { "code": "M47.8", "description": "Other spondylosis", "attributes": { "type": "any" } }, { "code": "M47.9", "description": "Spondylosis, unspecified", "attributes": { "type": "any" } } ] }, { "concept_id": 11249, "concept_version_id": 18734, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4365", "phenotype_version_id": 9583, "phenotype_name": "Spondylosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "M47.1", "description": "Other spondylosis with myelopathy", "attributes": { "type": "any" } }, { "code": "M47.2", "description": "Other spondylosis with radiculopathy", "attributes": { "type": "any" } }, { "code": "M47.8", "description": "Other spondylosis", "attributes": { "type": "any" } }, { "code": "M47.9", "description": "Spondylosis, unspecified", "attributes": { "type": "any" } } ] }, { "concept_id": 11250, "concept_version_id": 18735, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4365", "phenotype_version_id": 9583, "phenotype_name": "Spondylosis", "code_attribute_header": [ "type" ], "codes": [ { "code": "F163200", "description": "Myelopathy due to spondylosis", "attributes": { "type": "any" } }, { "code": "F337200", "description": "Nerve root and plexus compressions in spondylosis", "attributes": { "type": "any" } }, { "code": "N11..00", "description": "Spondylosis and allied disorders", "attributes": { "type": "any" } }, { "code": "N110.00", "description": "Cervical spondylosis without myelopathy", "attributes": { "type": "any" } }, { "code": "N110000", "description": "Single-level cervical spondylosis without myelopathy", "attributes": { "type": "any" } }, { "code": "N110100", "description": "Two-level cervical spondylosis without myelopathy", "attributes": { "type": "any" } }, { "code": "N110.11", "description": "Cervical spondylosis", "attributes": { "type": "any" } }, { "code": "N110.12", "description": "Osteoarthritis cervical spine", "attributes": { "type": "any" } }, { "code": "N110200", "description": "Multiple-level cervical spondylosis without myelopathy", "attributes": { "type": "any" } }, { "code": "N111.00", "description": "Cervical spondylosis with myelopathy", "attributes": { "type": "any" } }, { "code": "N111000", "description": "Single-level cervical spondylosis with myelopathy", "attributes": { "type": "any" } }, { "code": "N11..11", "description": "Arthritis of spine", "attributes": { "type": "any" } }, { "code": "N111100", "description": "Two-level cervical spondylosis with myelopathy", "attributes": { "type": "any" } }, { "code": "N11..12", "description": "Osteoarthritis of spine", "attributes": { "type": "any" } }, { "code": "N111200", "description": "Multiple-level cervical spondylosis with myelopathy", "attributes": { "type": "any" } }, { "code": "N112.00", "description": "Thoracic spondylosis without myelopathy", "attributes": { "type": "any" } }, { "code": "N112000", "description": "Single-level thoracic spondylosis without myelopathy", "attributes": { "type": "any" } }, { "code": "N112100", "description": "Two-level thoracic spondylosis without myelopathy", "attributes": { "type": "any" } }, { "code": "N112.11", "description": "Thoracic spondylosis", "attributes": { "type": "any" } }, { "code": "N112200", "description": "Multiple-level thoracic spondylosis without myelopathy", "attributes": { "type": "any" } }, { "code": "N112300", "description": "Dorsal spondylosis without myelopathy", "attributes": { "type": "any" } }, { "code": "N113.00", "description": "Thoracic spondylosis with myelopathy", "attributes": { "type": "any" } }, { "code": "N113000", "description": "Single-level thoracic spondylosis with myelopathy", "attributes": { "type": "any" } }, { "code": "N113200", "description": "Multiple-level thoracic spondylosis with myelopathy", "attributes": { "type": "any" } }, { "code": "N114.00", "description": "Lumbosacral spondylosis without myelopathy", "attributes": { "type": "any" } }, { "code": "N114000", "description": "Single-level lumbosacral spondylosis without myelopathy", "attributes": { "type": "any" } }, { "code": "N114100", "description": "Two-level lumbosacral spondylosis without myelopathy", "attributes": { "type": "any" } }, { "code": "N114.11", "description": "Degeneration of lumbar spine", "attributes": { "type": "any" } }, { "code": "N114.12", "description": "Lumbar spondylosis", "attributes": { "type": "any" } }, { "code": "N114200", "description": "Multiple-level lumbosacral spondylosis without myelopathy", "attributes": { "type": "any" } }, { "code": "N115.00", "description": "Lumbosacral spondylosis with myelopathy", "attributes": { "type": "any" } }, { "code": "N115000", "description": "Single-level lumbosacral spondylosis with myelopathy", "attributes": { "type": "any" } }, { "code": "N115100", "description": "Two-level lumbosacral spondylosis with myelopathy", "attributes": { "type": "any" } }, { "code": "N115200", "description": "Multiple-level lumbosacral spondylosis with myelopathy", "attributes": { "type": "any" } }, { "code": "N119.00", "description": "Cervical spondylosis with radiculopathy", "attributes": { "type": "any" } }, { "code": "N119000", "description": "Single-level cervical spondylosis with radiculopathy", "attributes": { "type": "any" } }, { "code": "N119100", "description": "Two-level cervical spondylosis with radiculopathy", "attributes": { "type": "any" } }, { "code": "N119200", "description": "Multiple-level cervical spondylosis with radiculopathy", "attributes": { "type": "any" } }, { "code": "N11A.00", "description": "Cervical spondylosis with vascular compression", "attributes": { "type": "any" } }, { "code": "N11B.00", "description": "Thoracic spondylosis with radiculopathy", "attributes": { "type": "any" } }, { "code": "N11B000", "description": "Single-level thoracic spondylosis with radiculopathy", "attributes": { "type": "any" } }, { "code": "N11B100", "description": "Two-level thoracic spondylosis with radiculopathy", "attributes": { "type": "any" } }, { "code": "N11B200", "description": "Multiple-level thoracic spondylosis with radiculopathy", "attributes": { "type": "any" } }, { "code": "N11C.00", "description": "Lumbosacral spondylosis with radiculopathy", "attributes": { "type": "any" } }, { "code": "N11C000", "description": "Single-level lumbosacral spondylosis with radiculopathy", "attributes": { "type": "any" } }, { "code": "N11C100", "description": "Two-level lumbosacral spondylosis with radiculopathy", "attributes": { "type": "any" } }, { "code": "N11C200", "description": "Multiple-level lumbosacral spondylosis with radiculopathy", "attributes": { "type": "any" } }, { "code": "N11D.00", "description": "Osteoarthritis of spine", "attributes": { "type": "any" } }, { "code": "N11D000", "description": "Osteoarthritis of cervical spine", "attributes": { "type": "any" } }, { "code": "N11D100", "description": "Osteoarthritis of thoracic spine", "attributes": { "type": "any" } }, { "code": "N11D200", "description": "Osteoarthritis of lumbar spine", "attributes": { "type": "any" } }, { "code": "N11D300", "description": "Osteoarthritis of spine NOS", "attributes": { "type": "any" } }, { "code": "N11E.00", "description": "Cervical spondylosis", "attributes": { "type": "any" } }, { "code": "N11z.00", "description": "Spondylosis NOS", "attributes": { "type": "any" } }, { "code": "N11z000", "description": "Spondylosis without myelopathy, NOS", "attributes": { "type": "any" } }, { "code": "N11z100", "description": "Spondylosis with myelopathy, NOS", "attributes": { "type": "any" } }, { "code": "N11z.11", "description": "Osteoarthritis spine", "attributes": { "type": "any" } }, { "code": "N11zz00", "description": "Spondylosis NOS", "attributes": { "type": "any" } }, { "code": "Nyu6300", "description": "[X]Other spondylosis with radiculopathy", "attributes": { "type": "any" } }, { "code": "Nyu6400", "description": "[X]Other spondylosis", "attributes": { "type": "any" } }, { "code": "X703j", "description": "Cervical spondylosis", "attributes": { "type": "any" } }, { "code": "XE1Et", "description": "Spondylosis and allied disorders", "attributes": { "type": "any" } }, { "code": "XE1Eu", "description": "Cervical spondylosis without myelopathy", "attributes": { "type": "any" } }, { "code": "XE1Ev", "description": "Cervical spondylosis with myelopathy", "attributes": { "type": "any" } }, { "code": "XE1Ew", "description": "Thoracic spondylosis without myelopathy", "attributes": { "type": "any" } }, { "code": "XE1Ex", "description": "Lumbosacral spondylosis without myelopathy", "attributes": { "type": "any" } }, { "code": "XE1Ey", "description": "Spondylosis NOS", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/h8yw-qr98", "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": 9583, "version_name": "Spondylosis", "version_date": "2026-06-08T20:20:10.216586Z", "is_published": true, "is_latest": true } ] } ]