[ { "phenotype_id": "PH4362", "phenotype_version_id": 9580, "name": "Spina bifida", "definition": "A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae.\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": "2026-06-08T20:19:57.329063Z", "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": "2026-06-08T20:19:57.321267Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Spina bifida (disorder)", "value": 760589 } ], "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": 11226, "concept_version_id": 18711, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4362", "phenotype_version_id": 9580, "phenotype_name": "Spina bifida", "code_attribute_header": [ "type" ], "codes": [ { "code": "1524", "description": "spina bifida", "attributes": { "type": "any" } } ] }, { "concept_id": 11227, "concept_version_id": 18712, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4362", "phenotype_version_id": 9580, "phenotype_name": "Spina bifida", "code_attribute_header": [ "type" ], "codes": [ { "code": "Q05", "description": "Spina bifida", "attributes": { "type": "any" } }, { "code": "Q76.0", "description": "Spina bifida occulta", "attributes": { "type": "any" } } ] }, { "concept_id": 11228, "concept_version_id": 18713, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4362", "phenotype_version_id": 9580, "phenotype_name": "Spina bifida", "code_attribute_header": [ "type" ], "codes": [ { "code": "Q05", "description": "Spina bifida", "attributes": { "type": "any" } }, { "code": "Q76.0", "description": "Spina bifida occulta", "attributes": { "type": "any" } } ] }, { "concept_id": 11229, "concept_version_id": 18714, "concept_name": "Operative procedures - main OPCS4", "coding_system": { "id": 7, "name": "OPCS4 codes", "description": "OPCS4 codes" }, "phenotype_id": "PH4362", "phenotype_version_id": 9580, "phenotype_name": "Spina bifida", "code_attribute_header": [ "type" ], "codes": [ { "code": "A49", "description": "Repair of spina bifida", "attributes": { "type": "any" } }, { "code": "A49.1", "description": "Freeing of spinal tether NEC", "attributes": { "type": "any" } }, { "code": "A49.2", "description": "Closure of spinal myelomeningocele", "attributes": { "type": "any" } }, { "code": "A49.3", "description": "Closure of spinal meningocele", "attributes": { "type": "any" } }, { "code": "A49.4", "description": "Complex freeing of spinal tether", "attributes": { "type": "any" } }, { "code": "A49.8", "description": "Other specified repair of spina bifida", "attributes": { "type": "any" } }, { "code": "A49.9", "description": "Unspecified repair of spina bifida", "attributes": { "type": "any" } } ] }, { "concept_id": 11230, "concept_version_id": 18715, "concept_name": "Operative procedures - secondary OPCS4", "coding_system": { "id": 7, "name": "OPCS4 codes", "description": "OPCS4 codes" }, "phenotype_id": "PH4362", "phenotype_version_id": 9580, "phenotype_name": "Spina bifida", "code_attribute_header": [ "type" ], "codes": [ { "code": "A49", "description": "A49", "attributes": { "type": "any" } }, { "code": "A49.1", "description": "A49.1", "attributes": { "type": "any" } }, { "code": "A49.2", "description": "A49.2", "attributes": { "type": "any" } }, { "code": "A49.3", "description": "A49.3", "attributes": { "type": "any" } }, { "code": "A49.4", "description": "A49.4", "attributes": { "type": "any" } }, { "code": "A49.8", "description": "A49.8", "attributes": { "type": "any" } }, { "code": "A49.9", "description": "A49.9", "attributes": { "type": "any" } } ] }, { "concept_id": 11231, "concept_version_id": 18716, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4362", "phenotype_version_id": 9580, "phenotype_name": "Spina bifida", "code_attribute_header": [ "type" ], "codes": [ { "code": "Q05", "description": "Spina bifida", "attributes": { "type": "any" } }, { "code": "Q76.0", "description": "Spina bifida occulta", "attributes": { "type": "any" } } ] }, { "concept_id": 11232, "concept_version_id": 18717, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4362", "phenotype_version_id": 9580, "phenotype_name": "Spina bifida", "code_attribute_header": [ "type" ], "codes": [ { "code": "Q05", "description": "Spina bifida", "attributes": { "type": "any" } }, { "code": "Q76.0", "description": "Spina bifida occulta", "attributes": { "type": "any" } } ] }, { "concept_id": 11233, "concept_version_id": 18718, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4362", "phenotype_version_id": 9580, "phenotype_name": "Spina bifida", "code_attribute_header": [ "type" ], "codes": [ { "code": "7010111.0", "description": "Insertion of Halber valve for spina bifida", "attributes": { "type": "any" } }, { "code": "7043.00", "description": "Repair of spina bifida", "attributes": { "type": "any" } }, { "code": "7043100.0", "description": "Closure of spinal myelomeningocele", "attributes": { "type": "any" } }, { "code": "7043200.0", "description": "Closure of spinal meningocele", "attributes": { "type": "any" } }, { "code": "7043y00", "description": "Other specified repair of spina bifida", "attributes": { "type": "any" } }, { "code": "7043z00", "description": "Repair of spina bifida NOS", "attributes": { "type": "any" } }, { "code": "P1...00", "description": "Spina bifida", "attributes": { "type": "any" } }, { "code": "P10..00", "description": "Spina bifida with hydrocephalus", "attributes": { "type": "any" } }, { "code": "P100.00", "description": "Unspecified spina bifida with hydrocephalus", "attributes": { "type": "any" } }, { "code": "P100000", "description": "Spina bifida with hydrocephalus, unspecified", "attributes": { "type": "any" } }, { "code": "P100100", "description": "Cervical spina bifida with hydrocephalus", "attributes": { "type": "any" } }, { "code": "P100200", "description": "Thoracic spina bifida with hydrocephalus", "attributes": { "type": "any" } }, { "code": "P100300", "description": "Lumbar spina bifida with hydrocephalus", "attributes": { "type": "any" } }, { "code": "P100z00", "description": "Spina bifida with hydrocephalus NOS", "attributes": { "type": "any" } }, { "code": "P101.11", "description": "Closed spina bifida with Arnold-Chiari malformation", "attributes": { "type": "any" } }, { "code": "P102.00", "description": "Spina bifida with hydrocephalus - open", "attributes": { "type": "any" } }, { "code": "P102.11", "description": "Fissured spine with hydrocephalus", "attributes": { "type": "any" } }, { "code": "P102.13", "description": "Myelocele with hydrocephalus", "attributes": { "type": "any" } }, { "code": "P102.14", "description": "Rachischisis with hydrocephalus", "attributes": { "type": "any" } }, { "code": "P102200", "description": "Thoracic spina bifida with hydrocephalus - open", "attributes": { "type": "any" } }, { "code": "P102300", "description": "Lumbar spina bifida with hydrocephalus - open", "attributes": { "type": "any" } }, { "code": "P102400", "description": "Sacral spina bifida with hydrocephalus - open", "attributes": { "type": "any" } }, { "code": "P102z00", "description": "Spina bifida with hydrocephalus - open NOS", "attributes": { "type": "any" } }, { "code": "P103.00", "description": "Spina bifida with hydrocephalus - closed", "attributes": { "type": "any" } }, { "code": "P103300", "description": "Lumbar spina bifida with hydrocephalus - closed", "attributes": { "type": "any" } }, { "code": "P103400", "description": "Sacral spina bifida with hydrocephalus - closed", "attributes": { "type": "any" } }, { "code": "P103z11", "description": "Thoracolumbar spina bifida with hydrocephalus - closed", "attributes": { "type": "any" } }, { "code": "P104.00", "description": "Spina bifida with hydrocephalus of late onset", "attributes": { "type": "any" } }, { "code": "P105.00", "description": "Spina bifida with stenosis of aqueduct of Sylvius", "attributes": { "type": "any" } }, { "code": "P10y.00", "description": "Other specified spina bifida with hydrocephalus", "attributes": { "type": "any" } }, { "code": "P10y000", "description": "Dandy - Walker syndrome with spina bifida", "attributes": { "type": "any" } }, { "code": "P10z.", "description": "Spina bifida with hydrocephalus NOS", "attributes": { "type": "any" } }, { "code": "P10z.00", "description": "Spina bifida with hydrocephalus NOS", "attributes": { "type": "any" } }, { "code": "P11..00", "description": "Spina bifida without mention of hydrocephalus", "attributes": { "type": "any" } }, { "code": "P110000", "description": "Spina bifida without hydrocephalus, site unspecified", "attributes": { "type": "any" } }, { "code": "P110100", "description": "Cervical spina bifida without mention of hydrocephalus", "attributes": { "type": "any" } }, { "code": "P110200", "description": "Thoracic spina bifida without mention of hydrocephalus", "attributes": { "type": "any" } }, { "code": "P110300", "description": "Lumbar spina bifida without mention of hydrocephalus", "attributes": { "type": "any" } }, { "code": "P110z00", "description": "Unspecified spina bifida without hydrocephalus NOS", "attributes": { "type": "any" } }, { "code": "P111.00", "description": "Spinal hydromeningocele", "attributes": { "type": "any" } }, { "code": "P112.00", "description": "Hydromyelocele", "attributes": { "type": "any" } }, { "code": "P113.00", "description": "Spinal meningocele", "attributes": { "type": "any" } }, { "code": "P113000", "description": "Spinal meningocele of unspecified site", "attributes": { "type": "any" } }, { "code": "P113100", "description": "Cervical spinal meningocele", "attributes": { "type": "any" } }, { "code": "P113200", "description": "Thoracic spinal meningocele", "attributes": { "type": "any" } }, { "code": "P113300", "description": "Lumbar spinal meningocele", "attributes": { "type": "any" } }, { "code": "P113z00", "description": "Spinal meningocele NOS", "attributes": { "type": "any" } }, { "code": "P114.00", "description": "Meningomyelocele", "attributes": { "type": "any" } }, { "code": "P114000", "description": "Meningomyelocele of unspecified site", "attributes": { "type": "any" } }, { "code": "P114100", "description": "Cervical meningomyelocele", "attributes": { "type": "any" } }, { "code": "P114200", "description": "Thoracic meningomyelocele", "attributes": { "type": "any" } }, { "code": "P114300", "description": "Lumbar meningomyelocele", "attributes": { "type": "any" } }, { "code": "P114z00", "description": "Meningomyelocele NOS", "attributes": { "type": "any" } }, { "code": "P115.00", "description": "Myelocele", "attributes": { "type": "any" } }, { "code": "P115100", "description": "Cervical myelocele", "attributes": { "type": "any" } }, { "code": "P115300", "description": "Lumbar myelocele", "attributes": { "type": "any" } }, { "code": "P115z00", "description": "Myelocele NOS", "attributes": { "type": "any" } }, { "code": "P116.00", "description": "Myelocystocele", "attributes": { "type": "any" } }, { "code": "P116100", "description": "Cervical myelocystocele", "attributes": { "type": "any" } }, { "code": "P116300", "description": "Lumbar myelocystocele", "attributes": { "type": "any" } }, { "code": "P116z00", "description": "Myelocystocele NOS", "attributes": { "type": "any" } }, { "code": "P117.00", "description": "Spina bifida without hydrocephalus - open", "attributes": { "type": "any" } }, { "code": "P117.11", "description": "Fissured spine", "attributes": { "type": "any" } }, { "code": "P117.12", "description": "Rachischisis", "attributes": { "type": "any" } }, { "code": "P117200", "description": "Thoracic spina bifida without hydrocephalus - open", "attributes": { "type": "any" } }, { "code": "P117300", "description": "Lumbar spina bifida without hydrocephalus - open", "attributes": { "type": "any" } }, { "code": "P117400", "description": "Sacral spina bifida without hydrocephalus - open", "attributes": { "type": "any" } }, { "code": "P117z00", "description": "Spina bifida without hydrocephalus - open NOS", "attributes": { "type": "any" } }, { "code": "P118.00", "description": "Spina bifida without hydrocephalus - closed", "attributes": { "type": "any" } }, { "code": "P118000", "description": "Unspecified spina bifida without hydrocephalus - closed", "attributes": { "type": "any" } }, { "code": "P118100", "description": "Cervical spina bifida without hydrocephalus - closed", "attributes": { "type": "any" } }, { "code": "P118300", "description": "Lumbar spina bifida without hydrocephalus - closed", "attributes": { "type": "any" } }, { "code": "P118400", "description": "Sacral spina bifida without hydrocephalus - closed", "attributes": { "type": "any" } }, { "code": "P118z00", "description": "Spina bifida without hydrocephalus - closed NOS", "attributes": { "type": "any" } }, { "code": "P11y.00", "description": "Other specified spina bifida without hydrocephalus", "attributes": { "type": "any" } }, { "code": "P11y.11", "description": "Syringomyelocele", "attributes": { "type": "any" } }, { "code": "P11z.00", "description": "Spina bifida without mention of hydrocephalus NOS", "attributes": { "type": "any" } }, { "code": "P1z..00", "description": "Spina bifida NOS", "attributes": { "type": "any" } }, { "code": "PG17.00", "description": "Spina bifida occulta", "attributes": { "type": "any" } }, { "code": "Pyu0400", "description": "[X]Unspecified spina bifida with hydrocephalus", "attributes": { "type": "any" } }, { "code": "XE1Jb", "description": "Spina bifida with hydrocephalus - open", "attributes": { "type": "any" } }, { "code": "XE1Jc", "description": "Spina bifida with hydrocephalus - closed NOS", "attributes": { "type": "any" } }, { "code": "XE1Je", "description": "Spina bifida without hydrocephalus - open", "attributes": { "type": "any" } }, { "code": "XE1Jf", "description": "Spina bifida without hydrocephalus - closed NOS", "attributes": { "type": "any" } }, { "code": "XE1Jg", "description": "Other specified spina bifida without hydrocephalus", "attributes": { "type": "any" } }, { "code": "XE1Jh", "description": "Spina bifida without mention of hydrocephalus NOS", "attributes": { "type": "any" } }, { "code": "XE1JZ", "description": "Spina bifida with hydrocephalus", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/g6t5-7d66", "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": 9580, "version_name": "Spina bifida", "version_date": "2026-06-08T20:19:57.342251Z", "is_published": true, "is_latest": true } ] } ]