[ { "phenotype_id": "PH4294", "phenotype_version_id": 9512, "name": "Primary Malignancy_Brain, Other CNS and Intracranial", "definition": "A neoplasm (disease) that involves the 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": "2026-06-08T20:16:05.076104Z", "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": "2026-06-08T20:16:05.070108Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "trials": null, "ontology": [ { "name": "Neoplasm of brain (disorder)", "value": 761225 } ], "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": 10800, "concept_version_id": 18285, "concept_name": "Cancer code, self-reported", "coding_system": { "id": 12, "name": "UKBioBank codes", "description": "UKBioBank codes" }, "phenotype_id": "PH4294", "phenotype_version_id": 9512, "phenotype_name": "Primary Malignancy_Brain, Other CNS and Intracranial", "code_attribute_header": [ "type" ], "codes": [ { "code": "1032", "description": "brain cancer / primary malignant brain tumour", "attributes": { "type": "any" } }, { "code": "1033", "description": "spinal cord or cranial nerve cancer", "attributes": { "type": "any" } } ] }, { "concept_id": 10801, "concept_version_id": 18286, "concept_name": "Diagnoses - main ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4294", "phenotype_version_id": 9512, "phenotype_name": "Primary Malignancy_Brain, Other CNS and Intracranial", "code_attribute_header": [ "type" ], "codes": [ { "code": "C70", "description": "Malignant neoplasm of meninges", "attributes": { "type": "any" } }, { "code": "C71", "description": "Malignant neoplasm of brain", "attributes": { "type": "any" } }, { "code": "C72", "description": "Malignant neoplasm of spinal cord, cranial nerves and other parts of central nervous system", "attributes": { "type": "any" } }, { "code": "C75.1", "description": "Malignant neoplasm: Pituitary gland", "attributes": { "type": "any" } }, { "code": "C75.2", "description": "Malignant neoplasm: Craniopharyngeal duct", "attributes": { "type": "any" } }, { "code": "C75.3", "description": "Malignant neoplasm: Pineal gland", "attributes": { "type": "any" } }, { "code": "C75.4", "description": "Malignant neoplasm: Carotid body", "attributes": { "type": "any" } }, { "code": "C75.5", "description": "Malignant neoplasm: Aortic body and other paraganglia", "attributes": { "type": "any" } } ] }, { "concept_id": 10802, "concept_version_id": 18287, "concept_name": "Diagnoses - secondary ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4294", "phenotype_version_id": 9512, "phenotype_name": "Primary Malignancy_Brain, Other CNS and Intracranial", "code_attribute_header": [ "type" ], "codes": [ { "code": "C70", "description": "Malignant neoplasm of meninges", "attributes": { "type": "any" } }, { "code": "C71", "description": "Malignant neoplasm of brain", "attributes": { "type": "any" } }, { "code": "C72", "description": "Malignant neoplasm of spinal cord, cranial nerves and other parts of central nervous system", "attributes": { "type": "any" } }, { "code": "C75.1", "description": "Malignant neoplasm: Pituitary gland", "attributes": { "type": "any" } }, { "code": "C75.2", "description": "Malignant neoplasm: Craniopharyngeal duct", "attributes": { "type": "any" } }, { "code": "C75.3", "description": "Malignant neoplasm: Pineal gland", "attributes": { "type": "any" } }, { "code": "C75.4", "description": "Malignant neoplasm: Carotid body", "attributes": { "type": "any" } }, { "code": "C75.5", "description": "Malignant neoplasm: Aortic body and other paraganglia", "attributes": { "type": "any" } } ] }, { "concept_id": 10803, "concept_version_id": 18288, "concept_name": "Underlying (primary) cause of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4294", "phenotype_version_id": 9512, "phenotype_name": "Primary Malignancy_Brain, Other CNS and Intracranial", "code_attribute_header": [ "type" ], "codes": [ { "code": "C70", "description": "Malignant neoplasm of meninges", "attributes": { "type": "any" } }, { "code": "C71", "description": "Malignant neoplasm of brain", "attributes": { "type": "any" } }, { "code": "C72", "description": "Malignant neoplasm of spinal cord, cranial nerves and other parts of central nervous system", "attributes": { "type": "any" } }, { "code": "C75.1", "description": "Malignant neoplasm: Pituitary gland", "attributes": { "type": "any" } }, { "code": "C75.2", "description": "Malignant neoplasm: Craniopharyngeal duct", "attributes": { "type": "any" } }, { "code": "C75.3", "description": "Malignant neoplasm: Pineal gland", "attributes": { "type": "any" } }, { "code": "C75.4", "description": "Malignant neoplasm: Carotid body", "attributes": { "type": "any" } }, { "code": "C75.5", "description": "Malignant neoplasm: Aortic body and other paraganglia", "attributes": { "type": "any" } } ] }, { "concept_id": 10804, "concept_version_id": 18289, "concept_name": "Contributory (secondary) causes of death: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4294", "phenotype_version_id": 9512, "phenotype_name": "Primary Malignancy_Brain, Other CNS and Intracranial", "code_attribute_header": [ "type" ], "codes": [ { "code": "C70", "description": "Malignant neoplasm of meninges", "attributes": { "type": "any" } }, { "code": "C71", "description": "Malignant neoplasm of brain", "attributes": { "type": "any" } }, { "code": "C72", "description": "Malignant neoplasm of spinal cord, cranial nerves and other parts of central nervous system", "attributes": { "type": "any" } }, { "code": "C75.1", "description": "Malignant neoplasm: Pituitary gland", "attributes": { "type": "any" } }, { "code": "C75.2", "description": "Malignant neoplasm: Craniopharyngeal duct", "attributes": { "type": "any" } }, { "code": "C75.3", "description": "Malignant neoplasm: Pineal gland", "attributes": { "type": "any" } }, { "code": "C75.4", "description": "Malignant neoplasm: Carotid body", "attributes": { "type": "any" } }, { "code": "C75.5", "description": "Malignant neoplasm: Aortic body and other paraganglia", "attributes": { "type": "any" } } ] }, { "concept_id": 10805, "concept_version_id": 18290, "concept_name": "GP clinical event records", "coding_system": { "id": 6, "name": "Read codes v3", "description": "Read codes v3" }, "phenotype_id": "PH4294", "phenotype_version_id": 9512, "phenotype_name": "Primary Malignancy_Brain, Other CNS and Intracranial", "code_attribute_header": [ "type" ], "codes": [ { "code": "B51..00", "description": "Malignant neoplasm of brain", "attributes": { "type": "any" } }, { "code": "B510.00", "description": "Malignant neoplasm cerebrum (excluding lobes and ventricles)", "attributes": { "type": "any" } }, { "code": "B510000", "description": "Malignant neoplasm of basal ganglia", "attributes": { "type": "any" } }, { "code": "B510100", "description": "Malignant neoplasm of cerebral cortex", "attributes": { "type": "any" } }, { "code": "B510300", "description": "Malignant neoplasm of globus pallidus", "attributes": { "type": "any" } }, { "code": "B510400", "description": "Malignant neoplasm of hypothalamus", "attributes": { "type": "any" } }, { "code": "B510500", "description": "Malignant neoplasm of thalamus", "attributes": { "type": "any" } }, { "code": "B510z00", "description": "Malignant neoplasm of cerebrum NOS", "attributes": { "type": "any" } }, { "code": "B511.00", "description": "Malignant neoplasm of frontal lobe", "attributes": { "type": "any" } }, { "code": "B51..11", "description": "Cerebral tumour - malignant", "attributes": { "type": "any" } }, { "code": "B512.00", "description": "Malignant neoplasm of temporal lobe", "attributes": { "type": "any" } }, { "code": "B512000", "description": "Malignant neoplasm of hippocampus", "attributes": { "type": "any" } }, { "code": "B512z00", "description": "Malignant neoplasm of temporal lobe NOS", "attributes": { "type": "any" } }, { "code": "B513.00", "description": "Malignant neoplasm of parietal lobe", "attributes": { "type": "any" } }, { "code": "B514.00", "description": "Malignant neoplasm of occipital lobe", "attributes": { "type": "any" } }, { "code": "B515.00", "description": "Malignant neoplasm of cerebral ventricles", "attributes": { "type": "any" } }, { "code": "B515000", "description": "Malignant neoplasm of choroid plexus", "attributes": { "type": "any" } }, { "code": "B516.00", "description": "Malignant neoplasm of cerebellum", "attributes": { "type": "any" } }, { "code": "B517.00", "description": "Malignant neoplasm of brain stem", "attributes": { "type": "any" } }, { "code": "B517000", "description": "Malignant neoplasm of cerebral peduncle", "attributes": { "type": "any" } }, { "code": "B517100", "description": "Malignant neoplasm of medulla oblongata", "attributes": { "type": "any" } }, { "code": "B517200", "description": "Malignant neoplasm of midbrain", "attributes": { "type": "any" } }, { "code": "B517300", "description": "Malignant neoplasm of pons", "attributes": { "type": "any" } }, { "code": "B517z00", "description": "Malignant neoplasm of brain stem NOS", "attributes": { "type": "any" } }, { "code": "B51y.00", "description": "Malignant neoplasm of other parts of brain", "attributes": { "type": "any" } }, { "code": "B51y000", "description": "Malignant neoplasm of corpus callosum", "attributes": { "type": "any" } }, { "code": "B51y200", "description": "Malignant neoplasm, overlapping lesion of brain", "attributes": { "type": "any" } }, { "code": "B51yz00", "description": "Malignant neoplasm of other part of brain NOS", "attributes": { "type": "any" } }, { "code": "B51z.00", "description": "Malignant neoplasm of brain NOS", "attributes": { "type": "any" } }, { "code": "B520.00", "description": "Malignant neoplasm of cranial nerves", "attributes": { "type": "any" } }, { "code": "B520000", "description": "Malignant neoplasm of olfactory bulb", "attributes": { "type": "any" } }, { "code": "B520100", "description": "Malignant neoplasm of optic nerve", "attributes": { "type": "any" } }, { "code": "B520200", "description": "Malignant neoplasm of acoustic nerve", "attributes": { "type": "any" } }, { "code": "B520z00", "description": "Malignant neoplasm of cranial nerves NOS", "attributes": { "type": "any" } }, { "code": "B521.00", "description": "Malignant neoplasm of cerebral meninges", "attributes": { "type": "any" } }, { "code": "B521200", "description": "Malignant neoplasm of cerebral pia mater", "attributes": { "type": "any" } }, { "code": "B521z00", "description": "Malignant neoplasm of cerebral meninges NOS", "attributes": { "type": "any" } }, { "code": "B522.00", "description": "Malignant neoplasm of spinal cord", "attributes": { "type": "any" } }, { "code": "B523.00", "description": "Malignant neoplasm of spinal meninges", "attributes": { "type": "any" } }, { "code": "B523z00", "description": "Malignant neoplasm of spinal meninges NOS", "attributes": { "type": "any" } }, { "code": "B525.00", "description": "Malignant neoplasm of cauda equina", "attributes": { "type": "any" } }, { "code": "B52W.00", "description": "Malig neopl, overlap lesion brain & other part of CNS", "attributes": { "type": "any" } }, { "code": "B52X.00", "description": "Malignant neoplasm of meninges, unspecified", "attributes": { "type": "any" } }, { "code": "B542.00", "description": "Malignant neoplasm pituitary gland and craniopharyngeal duct", "attributes": { "type": "any" } }, { "code": "B542000", "description": "Malignant neoplasm of pituitary gland", "attributes": { "type": "any" } }, { "code": "B542100", "description": "Malignant neoplasm of craniopharyngeal duct", "attributes": { "type": "any" } }, { "code": "B542z00", "description": "Malig neop pituitary gland or craniopharyngeal duct NOS", "attributes": { "type": "any" } }, { "code": "B543.00", "description": "Malignant neoplasm of pineal gland", "attributes": { "type": "any" } }, { "code": "B544.00", "description": "Malignant neoplasm of carotid body", "attributes": { "type": "any" } }, { "code": "B545.00", "description": "Malignant neoplasm of aortic body and other paraganglia", "attributes": { "type": "any" } }, { "code": "B545000", "description": "Malignant neoplasm of glomus jugulare", "attributes": { "type": "any" } }, { "code": "B545100", "description": "Malignant neoplasm of aortic body", "attributes": { "type": "any" } }, { "code": "B545200", "description": "Malignant neoplasm of coccygeal body", "attributes": { "type": "any" } }, { "code": "B545z00", "description": "Malignant neoplasm of aortic body or paraganglia NOS", "attributes": { "type": "any" } }, { "code": "BBbB.00", "description": "[M]Astrocytoma NOS", "attributes": { "type": "any" } }, { "code": "BBbB.11", "description": "[M]Astrocytic glioma", "attributes": { "type": "any" } }, { "code": "BBbC.00", "description": "[M]Astrocytoma, anaplastic type", "attributes": { "type": "any" } }, { "code": "BBbE.00", "description": "[M]Gemistocytic astrocytoma", "attributes": { "type": "any" } }, { "code": "BBbF.00", "description": "[M]Fibrillary astrocytoma", "attributes": { "type": "any" } }, { "code": "BBbG.00", "description": "[M]Pilocytic astrocytoma", "attributes": { "type": "any" } }, { "code": "BBbG.11", "description": "[M]Juvenile astrocytoma", "attributes": { "type": "any" } }, { "code": "BBbG.12", "description": "[M]Piloid astrocytoma", "attributes": { "type": "any" } }, { "code": "BBbH.00", "description": "[M]Spongioblastoma NOS", "attributes": { "type": "any" } }, { "code": "BBbK.00", "description": "[M]Astroblastoma", "attributes": { "type": "any" } }, { "code": "BBbL.00", "description": "[M]Glioblastoma NOS", "attributes": { "type": "any" } }, { "code": "BBbL.11", "description": "[M]Glioblastoma multiforme", "attributes": { "type": "any" } }, { "code": "BBbM.00", "description": "[M]Giant cell glioblastoma", "attributes": { "type": "any" } }, { "code": "BBbQ.00", "description": "[M]Oligodendroglioma NOS", "attributes": { "type": "any" } }, { "code": "BBbR.00", "description": "[M]Oligodendroglioma, anaplastic type", "attributes": { "type": "any" } }, { "code": "BBbS.00", "description": "[M]Oligodendroblastoma", "attributes": { "type": "any" } }, { "code": "BBbT.00", "description": "[M]Medulloblastoma NOS", "attributes": { "type": "any" } }, { "code": "BBbU.00", "description": "[M]Desmoplastic medulloblastoma", "attributes": { "type": "any" } }, { "code": "BBbV.00", "description": "[M]Medullomyoblastoma", "attributes": { "type": "any" } }, { "code": "BBbW.00", "description": "[M]Cerebellar sarcoma NOS", "attributes": { "type": "any" } }, { "code": "BBbz.00", "description": "[M]Glioma NOS", "attributes": { "type": "any" } }, { "code": "BBbZ.00", "description": "[M]Pleomorphic xanthoastrocytoma", "attributes": { "type": "any" } }, { "code": "BBc2.00", "description": "[M]Medulloepithelioma NOS", "attributes": { "type": "any" } }, { "code": "BBc6.11", "description": "[M]Glioneuroma", "attributes": { "type": "any" } }, { "code": "BBc7.11", "description": "[M]Neuroastrocytoma", "attributes": { "type": "any" } }, { "code": "BBcA.00", "description": "[M]Olfactory neurogenic tumour", "attributes": { "type": "any" } }, { "code": "BBd2.00", "description": "[M]Meningioma, malignant", "attributes": { "type": "any" } }, { "code": "BBd2.12", "description": "[M]Meningothelial sarcoma", "attributes": { "type": "any" } }, { "code": "BBdA.00", "description": "[M]Papillary meningioma", "attributes": { "type": "any" } }, { "code": "ByuA000", "description": "[X]Malignant neoplasm/other and unspecified cranial nerves", "attributes": { "type": "any" } }, { "code": "ByuA100", "description": "[X]Malignant neoplasm/central nervous system, unspecified", "attributes": { "type": "any" } }, { "code": "ByuA200", "description": "[X]Malignant neoplasm of meninges, unspecified", "attributes": { "type": "any" } }, { "code": "ByuA300", "description": "[X]Malig neopl, overlap lesion brain & other part of CNS", "attributes": { "type": "any" } }, { "code": "XaC1Q", "description": "Malignant neoplasm, overlapping lesion of brain", "attributes": { "type": "any" } }, { "code": "XE1wb", "description": "[M]Glioblastoma NOS", "attributes": { "type": "any" } }, { "code": "ZV10y12", "description": "[V]Personal history of malignant neoplasm of brain", "attributes": { "type": "prevalent" } } ] }, { "concept_id": 10806, "concept_version_id": 18291, "concept_name": "Type of cancer: ICD10", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH4294", "phenotype_version_id": 9512, "phenotype_name": "Primary Malignancy_Brain, Other CNS and Intracranial", "code_attribute_header": [ "type" ], "codes": [ { "code": "C70", "description": "Malignant neoplasm of meninges", "attributes": { "type": "any" } }, { "code": "C71", "description": "Malignant neoplasm of brain", "attributes": { "type": "any" } }, { "code": "C72", "description": "Malignant neoplasm of spinal cord, cranial nerves and other parts of central nervous system", "attributes": { "type": "any" } }, { "code": "C75.1", "description": "Malignant neoplasm: Pituitary gland", "attributes": { "type": "any" } }, { "code": "C75.2", "description": "Malignant neoplasm: Craniopharyngeal duct", "attributes": { "type": "any" } }, { "code": "C75.3", "description": "Malignant neoplasm: Pineal gland", "attributes": { "type": "any" } }, { "code": "C75.4", "description": "Malignant neoplasm: Carotid body", "attributes": { "type": "any" } }, { "code": "C75.5", "description": "Malignant neoplasm: Aortic body and other paraganglia", "attributes": { "type": "any" } } ] } ], "status": 1, "doi": "https://doi.org/10.48533/nvab-ew75", "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": 9512, "version_name": "Primary Malignancy_Brain, Other CNS and Intracranial", "version_date": "2026-06-08T20:16:05.083059Z", "is_published": true, "is_latest": true } ] } ]