[ { "phenotype_id": "PH4213", "phenotype_version_id": 9431, "name": "Intellectual disability", "definition": "Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range.\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": "2026-06-08T20:11:47.637440Z", "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": "2026-06-08T20:11:47.632105Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Intellectual disability (disorder)", "value": 761040 } ], "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": "ICD10 codes", "value": 4 }, { "name": "Read codes v3", "value": 6 } ], "corresp_author": "Ana Torralbo", "event_date_range": null, "concept_information": [ { "concept_id": 10325, "concept_version_id": 17810, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4213", "phenotype_version_id": 9431, "phenotype_name": "Intellectual disability", "code_attribute_header": [ "type" ], "codes": [ { "code": "F70", "description": "Mild mental retardation", "attributes": { "type": "any" } }, { "code": "F71", "description": "Moderate mental retardation", "attributes": { "type": "any" } }, { "code": "F72", "description": "Severe mental retardation", "attributes": { "type": "any" } }, { "code": "F73", "description": "Profound mental retardation", "attributes": { "type": "any" } }, { "code": "F78", "description": "Other mental retardation", "attributes": { "type": "any" } }, { "code": "F79", "description": "Unspecified mental retardation", "attributes": { "type": "any" } }, { "code": "F81.9", "description": "Developmental disorder of scholastic skills, unspecified", "attributes": { "type": "any" } } ] }, { "concept_id": 10326, "concept_version_id": 17811, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4213", "phenotype_version_id": 9431, "phenotype_name": "Intellectual disability", "code_attribute_header": [ "type" ], "codes": [ { "code": "F70", "description": "Mild mental retardation", "attributes": { "type": "any" } }, { "code": "F71", "description": "Moderate mental retardation", "attributes": { "type": "any" } }, { "code": "F72", "description": "Severe mental retardation", "attributes": { "type": "any" } }, { "code": "F73", "description": "Profound mental retardation", "attributes": { "type": "any" } }, { "code": "F78", "description": "Other mental retardation", "attributes": { "type": "any" } }, { "code": "F79", "description": "Unspecified mental retardation", "attributes": { "type": "any" } }, { "code": "F81.9", "description": "Developmental disorder of scholastic skills, unspecified", "attributes": { "type": "any" } } ] }, { "concept_id": 10327, "concept_version_id": 17812, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4213", "phenotype_version_id": 9431, "phenotype_name": "Intellectual disability", "code_attribute_header": [ "type" ], "codes": [ { "code": "F70", "description": "Mild mental retardation", "attributes": { "type": "any" } }, { "code": "F71", "description": "Moderate mental retardation", "attributes": { "type": "any" } }, { "code": "F72", "description": "Severe mental retardation", "attributes": { "type": "any" } }, { "code": "F73", "description": "Profound mental retardation", "attributes": { "type": "any" } }, { "code": "F78", "description": "Other mental retardation", "attributes": { "type": "any" } }, { "code": "F79", "description": "Unspecified mental retardation", "attributes": { "type": "any" } }, { "code": "F81.9", "description": "Developmental disorder of scholastic skills, unspecified", "attributes": { "type": "any" } } ] }, { "concept_id": 10328, "concept_version_id": 17813, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4213", "phenotype_version_id": 9431, "phenotype_name": "Intellectual disability", "code_attribute_header": [ "type" ], "codes": [ { "code": "F70", "description": "Mild mental retardation", "attributes": { "type": "any" } }, { "code": "F71", "description": "Moderate mental retardation", "attributes": { "type": "any" } }, { "code": "F72", "description": "Severe mental retardation", "attributes": { "type": "any" } }, { "code": "F73", "description": "Profound mental retardation", "attributes": { "type": "any" } }, { "code": "F78", "description": "Other mental retardation", "attributes": { "type": "any" } }, { "code": "F79", "description": "Unspecified mental retardation", "attributes": { "type": "any" } }, { "code": "F81.9", "description": "Developmental disorder of scholastic skills, unspecified", "attributes": { "type": "any" } } ] }, { "concept_id": 10329, "concept_version_id": 17814, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4213", "phenotype_version_id": 9431, "phenotype_name": "Intellectual disability", "code_attribute_header": [ "type" ], "codes": [ { "code": "918e.00", "description": "On learning disability register", "attributes": { "type": "any" } }, { "code": "94Z9.00", "description": "Preferred place of death: learning disability unit", "attributes": { "type": "any" } }, { "code": "9HB..00", "description": "Learning disabilities administration status", "attributes": { "type": "any" } }, { "code": "9HB0.00", "description": "Learning disabilities health action plan declined", "attributes": { "type": "any" } }, { "code": "9HB1.00", "description": "Learning disabilities health action plan offered", "attributes": { "type": "any" } }, { "code": "9HB2.00", "description": "Learning disabilities health action plan reviewed", "attributes": { "type": "any" } }, { "code": "9HB3.00", "description": "Learning disabilities health assessment", "attributes": { "type": "any" } }, { "code": "9HB4.00", "description": "Learning disabilities health action plan completed", "attributes": { "type": "any" } }, { "code": "9HB5.00", "description": "Learning disabilities annual health assessment", "attributes": { "type": "any" } }, { "code": "9HB6.00", "description": "Learning disabilities annual health assessment declined", "attributes": { "type": "any" } }, { "code": "9HB6.11", "description": "Learning disabilities annual health check declined", "attributes": { "type": "any" } }, { "code": "9HB7.00", "description": "Did not attend learning disabilities annual health assessmnt", "attributes": { "type": "any" } }, { "code": "9HB7.11", "description": "Did not attend learning disabilities annual health check", "attributes": { "type": "any" } }, { "code": "9mA..00", "description": "Learning disability annual health check invitation", "attributes": { "type": "any" } }, { "code": "9mA0.00", "description": "Learning disability annual health check verbal invitation", "attributes": { "type": "any" } }, { "code": "9mA1.00", "description": "Learning disability annual health check telephone invitation", "attributes": { "type": "any" } }, { "code": "9mA2.00", "description": "Learning disability annual health check letter invitation", "attributes": { "type": "any" } }, { "code": "9mA2000", "description": "Learning disability annual health check invtation 1st letter", "attributes": { "type": "any" } }, { "code": "9mA2100", "description": "Learning disability annual health check invtation 2nd letter", "attributes": { "type": "any" } }, { "code": "9mA2200", "description": "Learning disability annual health check invtation 3rd letter", "attributes": { "type": "any" } }, { "code": "E2F2.00", "description": "Other specific learning difficulty", "attributes": { "type": "any" } }, { "code": "E3...00", "description": "Mental retardation", "attributes": { "type": "any" } }, { "code": "E30..00", "description": "Mild mental retardation, IQ in range 50-70", "attributes": { "type": "any" } }, { "code": "E30..11", "description": "Educationally subnormal", "attributes": { "type": "any" } }, { "code": "E30..12", "description": "Feeble-minded", "attributes": { "type": "any" } }, { "code": "E30..13", "description": "Moron", "attributes": { "type": "any" } }, { "code": "E31..", "description": "Other specified mental retardation", "attributes": { "type": "any" } }, { "code": "E31..00", "description": "Other specified mental retardation", "attributes": { "type": "any" } }, { "code": "E310.00", "description": "Moderate mental retardation, IQ in range 35-49", "attributes": { "type": "any" } }, { "code": "E310.11", "description": "Imbecile", "attributes": { "type": "any" } }, { "code": "E311.00", "description": "Severe mental retardation, IQ in range 20-34", "attributes": { "type": "any" } }, { "code": "E312.00", "description": "Profound mental retardation with IQ less than 20", "attributes": { "type": "any" } }, { "code": "E312.11", "description": "Idiocy", "attributes": { "type": "any" } }, { "code": "E31z.00", "description": "Other specified mental retardation NOS", "attributes": { "type": "any" } }, { "code": "E3y..00", "description": "Other specified mental retardation", "attributes": { "type": "any" } }, { "code": "E3z..00", "description": "Mental retardation NOS", "attributes": { "type": "any" } }, { "code": "Eu7..00", "description": "[X]Mental retardation", "attributes": { "type": "any" } }, { "code": "Eu70.00", "description": "[X]Mild mental retardation", "attributes": { "type": "any" } }, { "code": "Eu70000", "description": "[X]Mld mental retard with statement no or min impairm behav", "attributes": { "type": "any" } }, { "code": "Eu70100", "description": "[X]Mld mental retard sig impairment behav req attent/treatmt", "attributes": { "type": "any" } }, { "code": "Eu70.12", "description": "[X]Mild mental subnormality", "attributes": { "type": "any" } }, { "code": "Eu70y00", "description": "[X]Mild mental retardation, other impairments of behaviour", "attributes": { "type": "any" } }, { "code": "Eu70z00", "description": "[X]Mild mental retardation without mention impairment behav", "attributes": { "type": "any" } }, { "code": "Eu71.00", "description": "[X]Moderate mental retardation", "attributes": { "type": "any" } }, { "code": "Eu71000", "description": "[X]Mod mental retard with statement no or min impairm behav", "attributes": { "type": "any" } }, { "code": "Eu71100", "description": "[X]Mod mental retard sig impairment behav req attent/treatmt", "attributes": { "type": "any" } }, { "code": "Eu71.11", "description": "[X]Moderate mental subnormality", "attributes": { "type": "any" } }, { "code": "Eu71y00", "description": "[X]Mod retard oth behav impair", "attributes": { "type": "any" } }, { "code": "Eu71z00", "description": "[X]Mod mental retardation without mention impairment behav", "attributes": { "type": "any" } }, { "code": "Eu72.00", "description": "[X]Severe mental retardation", "attributes": { "type": "any" } }, { "code": "Eu72000", "description": "[X]Sev mental retard with statement no or min impairm behav", "attributes": { "type": "any" } }, { "code": "Eu72100", "description": "[X]Sev mental retard sig impairment behav req attent/treatmt", "attributes": { "type": "any" } }, { "code": "Eu72.11", "description": "[X]Severe mental subnormality", "attributes": { "type": "any" } }, { "code": "Eu72y00", "description": "[X]Severe mental retardation, other impairments of behaviour", "attributes": { "type": "any" } }, { "code": "Eu72z00", "description": "[X]Sev mental retardation without mention impairment behav", "attributes": { "type": "any" } }, { "code": "Eu73.00", "description": "[X]Profound mental retardation", "attributes": { "type": "any" } }, { "code": "Eu73000", "description": "[X]Profound ment retrd wth statement no or min impairm behav", "attributes": { "type": "any" } }, { "code": "Eu73100", "description": "[X]Profound ment retard sig impairmnt behav req attent/treat", "attributes": { "type": "any" } }, { "code": "Eu73.11", "description": "[X]Profound mental subnormality", "attributes": { "type": "any" } }, { "code": "Eu73y00", "description": "[X]Profound mental retardation, other impairments of behavr", "attributes": { "type": "any" } }, { "code": "Eu73z00", "description": "[X]Prfnd mental retardation without mention impairment behav", "attributes": { "type": "any" } }, { "code": "Eu7y.00", "description": "[X]Other mental retardation", "attributes": { "type": "any" } }, { "code": "Eu7y000", "description": "[X]Oth mental retard with statement no or min impairm behav", "attributes": { "type": "any" } }, { "code": "Eu7y100", "description": "[X]Oth mental retard sig impairment behav req attent/treatmt", "attributes": { "type": "any" } }, { "code": "Eu7yy00", "description": "[X]Other mental retardation, other impairments of behaviour", "attributes": { "type": "any" } }, { "code": "Eu7yz00", "description": "[X]Other mental retardation without mention impairment behav", "attributes": { "type": "any" } }, { "code": "Eu7z.00", "description": "[X]Unspecified mental retardation", "attributes": { "type": "any" } }, { "code": "Eu7z000", "description": "[X]Unsp mental retard with statement no or min impairm behav", "attributes": { "type": "any" } }, { "code": "Eu7z100", "description": "[X]Unsp mentl retard sig impairment behav req attent/treatmt", "attributes": { "type": "any" } }, { "code": "Eu7z.11", "description": "[X]Mental deficiency NOS", "attributes": { "type": "any" } }, { "code": "Eu7z.12", "description": "[X]Mental subnormality NOS", "attributes": { "type": "any" } }, { "code": "Eu7zy00", "description": "[X]Unspecified mental retardatn, other impairments of behav", "attributes": { "type": "any" } }, { "code": "Eu7zz00", "description": "[X]Unsp mental retardation without mention impairment behav", "attributes": { "type": "any" } }, { "code": "Eu81400", "description": "[X]Moderate learning disability", "attributes": { "type": "any" } }, { "code": "Eu81500", "description": "[X]Severe learning disability", "attributes": { "type": "any" } }, { "code": "Eu81600", "description": "[X]Mild learning disability", "attributes": { "type": "any" } }, { "code": "Eu81700", "description": "[X]Profound learning disability", "attributes": { "type": "any" } }, { "code": "Eu81800", "description": "[X]Specific learning disability", "attributes": { "type": "any" } }, { "code": "Eu81z00", "description": "[X]Developmental disorder of scholastic skills, unspecified", "attributes": { "type": "any" } }, { "code": "Eu81z11", "description": "[X]Learning disability NOS", "attributes": { "type": "any" } }, { "code": "Eu81z12", "description": "[X]Learning disorder NOS", "attributes": { "type": "any" } }, { "code": "Eu81z13", "description": "[X]Learn acquisition disab NOS", "attributes": { "type": "any" } }, { "code": "Eu84112", "description": "[X]Mental retardation with autistic features", "attributes": { "type": "any" } }, { "code": "Eu84400", "description": "[X]Overactive disorder assoc mental retard/stereotype movts", "attributes": { "type": "any" } }, { "code": "XaJmb", "description": "Learning disabilities health assessment", "attributes": { "type": "any" } }, { "code": "XaJsd", "description": "Learning disabilities health action plan completed", "attributes": { "type": "any" } }, { "code": "XaJW7", "description": "Learning disabilities administration status", "attributes": { "type": "any" } }, { "code": "XaJW8", "description": "Learning disabilities health action plan offered", "attributes": { "type": "any" } }, { "code": "XaJW9", "description": "Learning disabilities health action plan declined", "attributes": { "type": "any" } }, { "code": "XaJWA", "description": "Learning disabilities health action plan reviewed", "attributes": { "type": "any" } }, { "code": "XaKYb", "description": "On learning disability register", "attributes": { "type": "any" } }, { "code": "XaL3Q", "description": "Learning disabilities annual health assessment", "attributes": { "type": "any" } }, { "code": "XaQnv", "description": "Learning disabilities annual health assessment declined", "attributes": { "type": "any" } }, { "code": "XaQnw", "description": "Did not attend learning disabilities annual health assessment", "attributes": { "type": "any" } }, { "code": "XaR4q", "description": "Preferred place of death: learning disability unit", "attributes": { "type": "any" } }, { "code": "XaR7S", "description": "Learning disability annual health check invitation", "attributes": { "type": "any" } }, { "code": "XaR7T", "description": "Learning disability annual health check verbal invitation", "attributes": { "type": "any" } }, { "code": "XaR7U", "description": "Learning disability annual health check telephone invitation", "attributes": { "type": "any" } }, { "code": "XaR8N", "description": "Learning disability annual health check letter invitation", "attributes": { "type": "any" } }, { "code": "XaW0U", "description": "Learning disability annual health check invitation first letter", "attributes": { "type": "any" } }, { "code": "XaW0V", "description": "Learning disability annual health check invitation second letter", "attributes": { "type": "any" } }, { "code": "XaW0W", "description": "Learning disability annual health check invitation third letter", "attributes": { "type": "any" } }, { "code": "XE1a2", "description": "[X]Unspecified mental retardation", "attributes": { "type": "any" } }, { "code": "XE2a3", "description": "Mild mental retardation, IQ in range 50-70", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/enc7-fq40", "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": 9431, "version_name": "Intellectual disability", "version_date": "2026-06-08T20:11:47.649551Z", "is_published": true, "is_latest": true } ] } ]