[ { "phenotype_id": "PH4121", "phenotype_version_id": 9339, "name": "Benign neoplasm of brain and other parts of central nervous system", "definition": "A brain or nervous system benign neoplasm that is characterized by lack of malignancy.\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": "2026-06-08T20:06:51.052116Z", "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": "2026-06-08T20:06:51.046566Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Benign neoplasm of central nervous system (disorder)", "value": 324415 } ], "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": 9738, "concept_version_id": 17223, "concept_name": "Non-cancer illness code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4121", "phenotype_version_id": 9339, "phenotype_name": "Benign neoplasm of brain and other parts of central nervous system", "code_attribute_header": [ "type" ], "codes": [ { "code": "1238", "description": "pituitary adenoma/tumour", "attributes": { "type": "any" } }, { "code": "1659", "description": "meningioma / benign meningeal tumour", "attributes": { "type": "any" } } ] }, { "concept_id": 9739, "concept_version_id": 17224, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4121", "phenotype_version_id": 9339, "phenotype_name": "Benign neoplasm of brain and other parts of central nervous system", "code_attribute_header": [ "type" ], "codes": [ { "code": "D32", "description": "Benign neoplasm of meninges", "attributes": { "type": "any" } }, { "code": "D33", "description": "Benign neoplasm of brain and other parts of central nervous system", "attributes": { "type": "any" } }, { "code": "D35.2", "description": "Benign neoplasm: Pituitary gland", "attributes": { "type": "any" } }, { "code": "D35.3", "description": "Benign neoplasm: Craniopharyngeal duct", "attributes": { "type": "any" } }, { "code": "D35.4", "description": "Benign neoplasm: Pineal gland", "attributes": { "type": "any" } }, { "code": "D35.5", "description": "Benign neoplasm: Carotid body", "attributes": { "type": "any" } }, { "code": "D35.6", "description": "Benign neoplasm: Aortic body and other paraganglia", "attributes": { "type": "any" } } ] }, { "concept_id": 9740, "concept_version_id": 17225, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4121", "phenotype_version_id": 9339, "phenotype_name": "Benign neoplasm of brain and other parts of central nervous system", "code_attribute_header": [ "type" ], "codes": [ { "code": "D32", "description": "Benign neoplasm of meninges", "attributes": { "type": "any" } }, { "code": "D33", "description": "Benign neoplasm of brain and other parts of central nervous system", "attributes": { "type": "any" } }, { "code": "D35.2", "description": "Benign neoplasm: Pituitary gland", "attributes": { "type": "any" } }, { "code": "D35.3", "description": "Benign neoplasm: Craniopharyngeal duct", "attributes": { "type": "any" } }, { "code": "D35.4", "description": "Benign neoplasm: Pineal gland", "attributes": { "type": "any" } }, { "code": "D35.5", "description": "Benign neoplasm: Carotid body", "attributes": { "type": "any" } }, { "code": "D35.6", "description": "Benign neoplasm: Aortic body and other paraganglia", "attributes": { "type": "any" } } ] }, { "concept_id": 9741, "concept_version_id": 17226, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4121", "phenotype_version_id": 9339, "phenotype_name": "Benign neoplasm of brain and other parts of central nervous system", "code_attribute_header": [ "type" ], "codes": [ { "code": "D32", "description": "Benign neoplasm of meninges", "attributes": { "type": "any" } }, { "code": "D33", "description": "Benign neoplasm of brain and other parts of central nervous system", "attributes": { "type": "any" } }, { "code": "D35.2", "description": "Benign neoplasm: Pituitary gland", "attributes": { "type": "any" } }, { "code": "D35.3", "description": "Benign neoplasm: Craniopharyngeal duct", "attributes": { "type": "any" } }, { "code": "D35.4", "description": "Benign neoplasm: Pineal gland", "attributes": { "type": "any" } }, { "code": "D35.5", "description": "Benign neoplasm: Carotid body", "attributes": { "type": "any" } }, { "code": "D35.6", "description": "Benign neoplasm: Aortic body and other paraganglia", "attributes": { "type": "any" } } ] }, { "concept_id": 9742, "concept_version_id": 17227, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4121", "phenotype_version_id": 9339, "phenotype_name": "Benign neoplasm of brain and other parts of central nervous system", "code_attribute_header": [ "type" ], "codes": [ { "code": "D32", "description": "Benign neoplasm of meninges", "attributes": { "type": "any" } }, { "code": "D33", "description": "Benign neoplasm of brain and other parts of central nervous system", "attributes": { "type": "any" } }, { "code": "D35.2", "description": "Benign neoplasm: Pituitary gland", "attributes": { "type": "any" } }, { "code": "D35.3", "description": "Benign neoplasm: Craniopharyngeal duct", "attributes": { "type": "any" } }, { "code": "D35.4", "description": "Benign neoplasm: Pineal gland", "attributes": { "type": "any" } }, { "code": "D35.5", "description": "Benign neoplasm: Carotid body", "attributes": { "type": "any" } }, { "code": "D35.6", "description": "Benign neoplasm: Aortic body and other paraganglia", "attributes": { "type": "any" } } ] }, { "concept_id": 9743, "concept_version_id": 17228, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4121", "phenotype_version_id": 9339, "phenotype_name": "Benign neoplasm of brain and other parts of central nervous system", "code_attribute_header": [ "type" ], "codes": [ { "code": "B7F..00", "description": "Benign neoplasm of brain and other parts of nervous system", "attributes": { "type": "any" } }, { "code": "B7F0.00", "description": "Benign neoplasm of brain", "attributes": { "type": "any" } }, { "code": "B7F0000", "description": "Benign neoplasm of brain, supratentorial", "attributes": { "type": "any" } }, { "code": "B7F0.11", "description": "Cerebral tumour - benign", "attributes": { "type": "any" } }, { "code": "B7F1.00", "description": "Benign neoplasm of cranial nerves", "attributes": { "type": "any" } }, { "code": "B7F1000", "description": "Acoustic neuroma", "attributes": { "type": "any" } }, { "code": "B7F2.00", "description": "Benign neoplasm of cerebral meninges", "attributes": { "type": "any" } }, { "code": "B7F2000", "description": "Cerebral meningioma", "attributes": { "type": "any" } }, { "code": "B7F2z00", "description": "Benign neoplasm of cerebral meninges NOS", "attributes": { "type": "any" } }, { "code": "B7F3.00", "description": "Benign neoplasm of spinal cord", "attributes": { "type": "any" } }, { "code": "B7F4.00", "description": "Benign neoplasm of spinal meninges", "attributes": { "type": "any" } }, { "code": "B7F4000", "description": "Spinal meningioma", "attributes": { "type": "any" } }, { "code": "B7F4z00", "description": "Benign neoplasm of spinal meninges NOS", "attributes": { "type": "any" } }, { "code": "B7FX.00", "description": "Benign neoplasm of meninges, unspecified", "attributes": { "type": "any" } }, { "code": "B7Fz.00", "description": "Benign neoplasm of brain or other nervous system NOS", "attributes": { "type": "any" } }, { "code": "B7H2.00", "description": "Benign neoplasm of pituitary gland and craniopharyngeal duct", "attributes": { "type": "any" } }, { "code": "B7H2000", "description": "Benign neoplasm of pituitary gland", "attributes": { "type": "any" } }, { "code": "B7H2100", "description": "Benign neoplasm of Rathke's pouch", "attributes": { "type": "any" } }, { "code": "B7H2.11", "description": "Pituitary adenoma", "attributes": { "type": "any" } }, { "code": "B7H2200", "description": "Benign neoplasm of sella turcica", "attributes": { "type": "any" } }, { "code": "B7H2300", "description": "Benign neoplasm of craniopharyngeal duct", "attributes": { "type": "any" } }, { "code": "B7H2z00", "description": "Benign neoplasm of pituitary and craniopharyngeal duct NOS", "attributes": { "type": "any" } }, { "code": "B7H3.00", "description": "Benign neoplasm of pineal gland", "attributes": { "type": "any" } }, { "code": "B7H4.00", "description": "Benign neoplasm of carotid body", "attributes": { "type": "any" } }, { "code": "B7H5.00", "description": "Benign neoplasm of aortic body and other paraganglia", "attributes": { "type": "any" } }, { "code": "B7H5000", "description": "Benign neoplasm of glomus jugulare", "attributes": { "type": "any" } }, { "code": "B7H5100", "description": "Benign neoplasm of aortic body", "attributes": { "type": "any" } }, { "code": "B7H5200", "description": "Benign neoplasm of coccygeal body", "attributes": { "type": "any" } }, { "code": "B7H5z00", "description": "Benign neoplasm of aortic body and other paraganglia NOS", "attributes": { "type": "any" } }, { "code": "BBb5.00", "description": "[M]Choroid plexus papilloma NOS", "attributes": { "type": "any" } }, { "code": "BBd..00", "description": "[M]Meningiomas", "attributes": { "type": "any" } }, { "code": "BBd0.00", "description": "[M]Meningioma NOS", "attributes": { "type": "any" } }, { "code": "BBd3.00", "description": "[M]Meningotheliomatous meningioma", "attributes": { "type": "any" } }, { "code": "BBd3.11", "description": "[M]Endotheliomatous meningioma", "attributes": { "type": "any" } }, { "code": "BBd4.00", "description": "[M]Fibrous meningioma", "attributes": { "type": "any" } }, { "code": "BBd5.00", "description": "[M]Psammomatous meningioma", "attributes": { "type": "any" } }, { "code": "BBd6.00", "description": "[M]Angiomatous meningioma", "attributes": { "type": "any" } }, { "code": "BBd7.00", "description": "[M]Haemangioblastic meningioma", "attributes": { "type": "any" } }, { "code": "BBd7.11", "description": "[M]Angioblastic meningioma", "attributes": { "type": "any" } }, { "code": "BBd8.00", "description": "[M]Haemangiopericytic meningioma", "attributes": { "type": "any" } }, { "code": "BBd9.00", "description": "[M]Transitional meningioma", "attributes": { "type": "any" } }, { "code": "BBdz.", "description": "[M]Meningioma NOS", "attributes": { "type": "any" } }, { "code": "BBdz.00", "description": "[M]Meningioma NOS", "attributes": { "type": "any" } }, { "code": "BBe5.11", "description": "[M]Acoustic neuroma", "attributes": { "type": "any" } }, { "code": "XE2va", "description": "Benign neoplasm of brain and other parts of nervous system", "attributes": { "type": "any" } }, { "code": "XE2vb", "description": "Benign neoplasm of pituitary gland and craniopharyngeal duct", "attributes": { "type": "any" } } ] }, { "concept_id": 9744, "concept_version_id": 17229, "concept_name": "Type of cancer: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4121", "phenotype_version_id": 9339, "phenotype_name": "Benign neoplasm of brain and other parts of central nervous system", "code_attribute_header": [ "type" ], "codes": [ { "code": "D32", "description": "Benign neoplasm of meninges", "attributes": { "type": "any" } }, { "code": "D33", "description": "Benign neoplasm of brain and other parts of central nervous system", "attributes": { "type": "any" } }, { "code": "D35.2", "description": "Benign neoplasm: Pituitary gland", "attributes": { "type": "any" } }, { "code": "D35.3", "description": "Benign neoplasm: Craniopharyngeal duct", "attributes": { "type": "any" } }, { "code": "D35.4", "description": "Benign neoplasm: Pineal gland", "attributes": { "type": "any" } }, { "code": "D35.5", "description": "Benign neoplasm: Carotid body", "attributes": { "type": "any" } }, { "code": "D35.6", "description": "Benign neoplasm: Aortic body and other paraganglia", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/tejm-5g19", "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": 9339, "version_name": "Benign neoplasm of brain and other parts of central nervous system", "version_date": "2026-06-08T20:06:51.058374Z", "is_published": true, "is_latest": true } ] } ]