[ { "phenotype_id": "PH4134", "phenotype_version_id": 9352, "name": "Cerebral Palsy", "definition": "A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain.\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": "2026-06-08T20:07:32.518052Z", "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": "2026-06-08T20:07:32.510723Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Cerebral palsy (disorder)", "value": 549656 } ], "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": 9823, "concept_version_id": 17308, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4134", "phenotype_version_id": 9352, "phenotype_name": "Cerebral Palsy", "code_attribute_header": [ "type" ], "codes": [ { "code": "1433", "description": "cerebral palsy", "attributes": { "type": "any" } } ] }, { "concept_id": 9824, "concept_version_id": 17309, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4134", "phenotype_version_id": 9352, "phenotype_name": "Cerebral Palsy", "code_attribute_header": [ "type" ], "codes": [ { "code": "G80", "description": "Cerebral palsy", "attributes": { "type": "any" } } ] }, { "concept_id": 9825, "concept_version_id": 17310, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4134", "phenotype_version_id": 9352, "phenotype_name": "Cerebral Palsy", "code_attribute_header": [ "type" ], "codes": [ { "code": "G80", "description": "Cerebral palsy", "attributes": { "type": "any" } } ] }, { "concept_id": 9826, "concept_version_id": 17311, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4134", "phenotype_version_id": 9352, "phenotype_name": "Cerebral Palsy", "code_attribute_header": [ "type" ], "codes": [ { "code": "G80", "description": "Cerebral palsy", "attributes": { "type": "any" } } ] }, { "concept_id": 9827, "concept_version_id": 17312, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4134", "phenotype_version_id": 9352, "phenotype_name": "Cerebral Palsy", "code_attribute_header": [ "type" ], "codes": [ { "code": "G80", "description": "Cerebral palsy", "attributes": { "type": "any" } } ] }, { "concept_id": 9828, "concept_version_id": 17313, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4134", "phenotype_version_id": 9352, "phenotype_name": "Cerebral Palsy", "code_attribute_header": [ "type" ], "codes": [ { "code": "38Gw.00", "description": "Gross Motor Function Classification System Cerebral Palsy", "attributes": { "type": "any" } }, { "code": "F137000", "description": "Athetoid cerebral palsy", "attributes": { "type": "any" } }, { "code": "F137011", "description": "Vogt's disease", "attributes": { "type": "any" } }, { "code": "F137100", "description": "Double athetosis", "attributes": { "type": "any" } }, { "code": "F137.11", "description": "Athetoid cerebral palsy", "attributes": { "type": "any" } }, { "code": "F137111", "description": "Congenital athetosis", "attributes": { "type": "any" } }, { "code": "F137.12", "description": "Athetosis - congenital", "attributes": { "type": "any" } }, { "code": "F23..00", "description": "Congenital cerebral palsy", "attributes": { "type": "any" } }, { "code": "F230.00", "description": "Congenital diplegia", "attributes": { "type": "any" } }, { "code": "F230000", "description": "Congenital paraplegia", "attributes": { "type": "any" } }, { "code": "F230100", "description": "Cerebral palsy with spastic diplegia", "attributes": { "type": "any" } }, { "code": "F230.11", "description": "Paraplegia - congenital", "attributes": { "type": "any" } }, { "code": "F230111", "description": "Spastic diplegic cerebral palsy", "attributes": { "type": "any" } }, { "code": "F230z00", "description": "Congenital diplegia NOS", "attributes": { "type": "any" } }, { "code": "F231.00", "description": "Congenital hemiplegia", "attributes": { "type": "any" } }, { "code": "F23..11", "description": "Congenital spastic cerebral palsy", "attributes": { "type": "any" } }, { "code": "F23..12", "description": "Infantile cerebral palsy", "attributes": { "type": "any" } }, { "code": "F23..13", "description": "Littles disease", "attributes": { "type": "any" } }, { "code": "F23..14", "description": "Cerebral atonia", "attributes": { "type": "any" } }, { "code": "F232.00", "description": "Congenital quadriplegia", "attributes": { "type": "any" } }, { "code": "F232.11", "description": "Tetraplegia - congenital", "attributes": { "type": "any" } }, { "code": "F233.00", "description": "Congenital monoplegia", "attributes": { "type": "any" } }, { "code": "F233.11", "description": "Congenital spastic foot", "attributes": { "type": "any" } }, { "code": "F234.00", "description": "Infantile hemiplegia NOS", "attributes": { "type": "any" } }, { "code": "F23y.00", "description": "Other congenital cerebral palsy", "attributes": { "type": "any" } }, { "code": "F23y000", "description": "Ataxic infantile cerebral palsy", "attributes": { "type": "any" } }, { "code": "F23y100", "description": "Flaccid infantile cerebral palsy", "attributes": { "type": "any" } }, { "code": "F23y200", "description": "Spastic cerebral palsy", "attributes": { "type": "any" } }, { "code": "F23y300", "description": "Dyskinetic cerebral palsy", "attributes": { "type": "any" } }, { "code": "F23y400", "description": "Ataxic diplegic cerebral palsy", "attributes": { "type": "any" } }, { "code": "F23y500", "description": "Worster-Drought syndrome", "attributes": { "type": "any" } }, { "code": "F23y511", "description": "Congenital suprabulbar paresis", "attributes": { "type": "any" } }, { "code": "F23y600", "description": "Choreoathetoid cerebral palsy", "attributes": { "type": "any" } }, { "code": "F23yz00", "description": "Other infantile cerebral palsy NOS", "attributes": { "type": "any" } }, { "code": "F23z.00", "description": "Congenital cerebral palsy NOS", "attributes": { "type": "any" } }, { "code": "F2B..00", "description": "Cerebral palsy", "attributes": { "type": "any" } }, { "code": "F2B0.00", "description": "Spastic quadriplegic cerebral palsy", "attributes": { "type": "any" } }, { "code": "F2B1.00", "description": "Spastic hemiplegic cerebral palsy", "attributes": { "type": "any" } }, { "code": "F2By.00", "description": "Other cerebral palsy", "attributes": { "type": "any" } }, { "code": "F2Bz.00", "description": "Cerebral palsy NOS", "attributes": { "type": "any" } }, { "code": "Fyu9.00", "description": "[X]Cerebral palsy and other paralytic syndromes", "attributes": { "type": "any" } }, { "code": "Fyu9000", "description": "[X]Other infantile cerebral palsy", "attributes": { "type": "any" } }, { "code": "G669.00", "description": "Cerebral palsy, not congenital or infantile, acute", "attributes": { "type": "any" } }, { "code": "X00En", "description": "Spastic cerebral palsy", "attributes": { "type": "any" } }, { "code": "X00Eu", "description": "Dyskinetic cerebral palsy", "attributes": { "type": "any" } }, { "code": "XaadE", "description": "Choreoathetoid cerebral palsy", "attributes": { "type": "any" } }, { "code": "XaaVG", "description": "Gross Motor Function Classification System for Cerebral Palsy", "attributes": { "type": "any" } }, { "code": "XaBE2", "description": "Cerebral palsy, not congenital or infantile, acute", "attributes": { "type": "any" } }, { "code": "XaNWb", "description": "Worster-Drought syndrome", "attributes": { "type": "any" } }, { "code": "XaYfK", "description": "Spastic hemiplegic cerebral palsy", "attributes": { "type": "any" } }, { "code": "XaYgp", "description": "Spastic quadriplegic cerebral palsy", "attributes": { "type": "any" } }, { "code": "XE15L", "description": "Symptomatic torsion dystonia", "attributes": { "type": "any" } }, { "code": "XE15M", "description": "Double athetosis", "attributes": { "type": "any" } }, { "code": "XE15V", "description": "Congenital monoplegia", "attributes": { "type": "any" } }, { "code": "XE2Q7", "description": "Athetoid cerebral palsy", "attributes": { "type": "any" } }, { "code": "XE2Q8", "description": "Cerebral palsy", "attributes": { "type": "any" } }, { "code": "XE2Q9", "description": "Cerebral palsy with spastic diplegia", "attributes": { "type": "any" } }, { "code": "XM1Pu", "description": "Congenital cerebral palsy", "attributes": { "type": "any" } }, { "code": "XM1Pw", "description": "Congenital quadriplegia", "attributes": { "type": "any" } }, { "code": "XM1Px", "description": "Congenital diplegia", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/egpw-dt70", "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": 9352, "version_name": "Cerebral Palsy", "version_date": "2026-06-08T20:07:32.528252Z", "is_published": true, "is_latest": true } ] } ]