[ { "phenotype_id": "PH1934", "phenotype_version_id": 4535, "name": "Epilepsy Syndromes", "definition": "This phenotype provides code lists for the phenotyping of the Epilepsy Syndromes as defined by the International League Against Epilepsy (ILAE) guidelines referenced below.\n\n\nWe have mapped all syndrome codes where possible to the most recent guidance definitions, including:\n\n\n1\\) Developmental and epileptic encephalopathies, including the progressive myoclonic epilepsies.\n\n\n3\\) Idiopathic generalised epilepsy syndromes (IGEs)\n\n\n4\\) Genetic Generalised Epilepsies (GGE) Also reffered to as Epilepsy syndromes with generalised features. \n\n\n5\\) Self\\-limited focal epilepsies.\n\n\n6\\) Aetiology specific epilepsy.\n\n\n7\\) Unspecified Idiopathic Generalised Epilepsy Syndrome or epilepsy syndrome with generalised features\n\n\n8\\) Unspecified focal idiopathic epilepsy or epilepsy syndrome.\n\n\nNote that all syndromes in the ILAE references were searched for in code systems,. Syndrome identification is limited by a lack of specific codes for all potential syndromes.\n\n\nSome Epilepsy syndromes are dual classified here and will appear on more than one list. We do have more complex mapping files that take into account the fact that there may be dual classification and included more detailed syndrome phenotyping. We are more than happy to share this work with researchers who would find this useful.\n\n\nIt is worth noting here that not all clinical \"syndromes\" with epilepsy are included here \\- some \"syndromes\" which have epilepsy as a clinical feature do not meet the specific ILAE clinical definition of an epilepsy syndrome. Codes for genetic aetiologies for epilepsy are listed separately in our published algorithms for Epilepsy Aetiologies.\n\n\n**References:**\n\n\nEpilepsy syndromes\n\n\nUsing the International league against epilepsy (ILAE) 2021\\-2022 guidelines, we have created a list of all epilepy syndromes and corresponding code lists. These syndrome code lists are based on information from the following papers:\n\n\nWirrell EC, Nabbout R, Scheffer IE, Alsaadi T, Bogacz A, French JA, et al. Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022; 63: 1333–1348\\. https://doi.org/10\\.1111/epi.17237\n\n\nZuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022; 63: 1349–1397\\. https://doi.org/10\\.1111/epi.17239\n\n\nSpecchio N, Wirrell EC, Scheffer IE, Nabbout R, Riney K, Samia P, et al. International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022; 63: 1398–1442\\. https://doi.org/10\\.1111/epi.17241\n\n\nRiney K, Bogacz A, Somerville E, Hirsch E, Nabbout R, Scheffer IE, et al. International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022; 63: 1443–1474\\. https://doi.org/10\\.1111/epi.17240\n\n\nHirsch E, French J, Scheffer IE, Bogacz A, Alsaadi T, Sperling MR, et al. ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022; 63: 1475–1499\\. https://doi.org/10\\.1111/epi.17236\n\n\nThis work builds on that previously done by:\n\n\nFonferko\\-Shadrach B, Lacey AS, White CP, Powell HWR, Sawhney IMS, Lyons RA, Smith PEM, Kerr MP, Rees MI, Pickrell WO. Validating epilepsy diagnoses in routinely collected data. Seizure. 2017 Nov;52:195\\-198\\. doi: 10\\.1016/j.seizure.2017\\.10\\.008\\. Epub 2017 Oct 13\\. PMID: 29059611; PMCID: PMC5703030\\.\n\n\nFonferko\\-Shadrach B, Lacey AS, Roberts A, et alUsing natural language processing to extract structured epilepsy data from unstructured clinic letters: development and validation of the ExECT (extraction of epilepsy clinical text) systemBMJ Open 2019;9:e023232\\. doi: 10\\.1136/bmjopen\\-2018\\-023232\n\n", "implementation": "This phenotype provides code lists for the phenotyping of the Epilepsy Syndromes as defined by the International League Against Epilepsy (ILAE) guidelines referenced below.\n\n\nNote that this code list is not intended to be used alone to ascertain epilepsy cases in coded data \\- we would reccomend that our incident epilepsy alogorithm is used for this purpose. Once cases are identified, these lists should be used to phenotype the case.\n\n\nThese code lists have been validated against clinical data \\- publication pending.\n\n", "publications": [], "validation": "", "citation_requirements": "", "created": "2025-11-19T15:37:22.200174Z", "author": "Kathryn J. Bush, Beata Fonferko-Shadrach, Huw A. Strafford, Arron S. Lacey, Rob Powell, Inder Sawhney, Rajish Sanjit Kumar-Shil, Alexander Grundmann, Gemma Maxwell, Tim Wilkinson, Andrew Kingston, Rhys H. Thomas, Sheena E. Ramsay, William O Pickrell", "collections": null, "tags": null, "organisation": null, "world_access": 1, "updated": "2025-12-01T12:42:55.490023Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "ontology": [ { "name": "epilepsy syndrome", "value": 16436, "reference_id": "MONDO:0015650" } ], "phenoflowid": "", "data_sources": [ { "name": "CPRD GOLD", "value": 5, "uid": "a29feafa-7bdd-44e9-b977-c9d26425e67f", "url": "https://healthdatagateway.org/en/dataset/694", "datasource_id": 694 }, { "name": "CPRD Aurum", "value": 6, "uid": "1d574c14-1af0-490d-9c4e-be88cfd0e345", "url": "https://healthdatagateway.org/en/dataset/692", "datasource_id": 692 }, { "name": "Welsh Longitudinal General Practice Dataset (WLGP) - Welsh Primary Care", "value": 35, "uid": "33fc3ffd-aa4c-4a16-a32f-0c900aaea3d2", "url": "https://healthdatagateway.org/en/dataset/355", "datasource_id": 355 } ], "coding_system": [ { "name": "ICD10 codes", "value": 4 }, { "name": "Read codes v2", "value": 5 } ], "event_date_range": "", "concept_information": [ { "concept_id": 4691, "concept_version_id": 12183, "concept_name": "Developmental and epileptic encephalopathies", "coding_system": { "id": 5, "name": "Read codes v2", "description": "Read codes v2" }, "phenotype_id": "PH1934", "phenotype_version_id": 4535, "phenotype_name": "Epilepsy Syndromes", "code_attribute_header": null, "codes": [ { "code": "C3151", "description": "MELAS", "attributes": null }, { "code": "C3272", "description": "Niemann-Pick disease", "attributes": null }, { "code": "EMISNQGL2", "description": "GLUT1 deficiency syndrome", "attributes": null }, { "code": "^ESCT1164424", "description": "Pyridoxine-dependent epilepsy", "attributes": null }, { "code": "^ESCT1177804", "description": "Dravet Syndrome", "attributes": null }, { "code": "^ESCT1207699", "description": "STXBP1 encephalopathy with epilepsy", "attributes": null }, { "code": "^ESCT1350026", "description": "Infantile epileptic dyskinetic encephalopathy", "attributes": null }, { "code": "^ESCT1357219", "description": "KCNQ2-related epileptic encephalopathy", "attributes": null }, { "code": "^ESCT1357293", "description": "Myoclonic epilepsy in non-progressive encephalopathy", "attributes": null }, { "code": "^ESCT1362418", "description": "Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome", "attributes": null }, { "code": "^ESCT1379158", "description": "Myoclonic epilepsy with ragged red fibres", "attributes": null }, { "code": "^ESCTAT805326", "description": "Atypical absence epilepsy", "attributes": null }, { "code": "^ESCTBE500712", "description": "Benign atypical partial epilepsy in childhood", "attributes": null }, { "code": "^ESCTEA321568", "description": "Early myoclonic encephalopathy", "attributes": null }, { "code": "^ESCTEP500794", "description": "Epilepsy with continuous spike wave during slow-wave sleep", "attributes": null }, { "code": "^ESCTEP784067", "description": "Epileptic encephalopathy", "attributes": null }, { "code": "^ESCTEP795518", "description": "Epilepsy of infancy with migrating focal seizures (EIMFS)", "attributes": null }, { "code": "^ESCTIN808972", "description": "Infantile spasms co-occurrent with status epilepticus", "attributes": null }, { "code": "^ESCTIN808973", "description": "Infantile spasms with status epilepticus", "attributes": null }, { "code": "^ESCTKU350778", "description": "Kufs type neuronal ceroid lipofuscinosis", "attributes": null }, { "code": "^ESCTLA500792", "description": "Landau-Kleffner syndrome", "attributes": null }, { "code": "^ESCTMY500762", "description": "Myoclonic astatic epilepsy", "attributes": null }, { "code": "^ESCTUN500768", "description": "Unverricht-Lundborg syndrome", "attributes": null }, { "code": "Eu803", "description": "Acquired epileptic aphasia", "attributes": null }, { "code": "Eu80300", "description": "[X]Acquired aphasia with epilepsy [Landau - Kleffner]", "attributes": null }, { "code": "F1010", "description": "Janksy-Bielschowsky disease (CLN2)", "attributes": null }, { "code": "F1011", "description": "Kufs Disease", "attributes": null }, { "code": "F1012", "description": "Batten's disease", "attributes": null }, { "code": "F1021", "description": "Cerebral degeneration in Niemann-Pick disease", "attributes": null }, { "code": "F10y0", "description": "Alper's disease", "attributes": null }, { "code": "F1321", "description": "Progressive myoclonic epilepsy", "attributes": null }, { "code": "F132100", "description": "Progressive myoclonic epilepsy", "attributes": null }, { "code": "F132111", "description": "Unverricht - Lundborg disease", "attributes": null }, { "code": "F1422", "description": "Dyssynergia cerebellaris myoclonica", "attributes": null }, { "code": "F142200", "description": "Dyssynergia cerebellaris myoclonica", "attributes": null }, { "code": "F2505", "description": "Lennox-Gastaut syndrome", "attributes": null }, { "code": "F250500", "description": "Lennox-Gastaut syndrome", "attributes": null }, { "code": "F251111", "description": "Otohara syndrome", "attributes": null }, { "code": "F256.", "description": "Infantile spasms", "attributes": null }, { "code": "F2560", "description": "Hypsarrhythmia", "attributes": null }, { "code": "F256.00", "description": "Infantile spasms", "attributes": null }, { "code": "F256000", "description": "Hypsarrhythmia", "attributes": null }, { "code": "F2561", "description": "Salaam attacks", "attributes": null }, { "code": "F256100", "description": "Salaam attacks", "attributes": null }, { "code": "F256.12", "description": "West syndrome", "attributes": null }, { "code": "F256z", "description": "Infantile spasms NOS", "attributes": null }, { "code": "F256z.", "description": "Infantile spasms NOS", "attributes": null }, { "code": "F256z00", "description": "Infantile spasms NOS", "attributes": null }, { "code": "F259.", "description": "Early infant epileptic encephalopathy wth suppression bursts", "attributes": null }, { "code": "F2590", "description": "Early infant epileptic encephalopathy wth suppression bursts", "attributes": null }, { "code": "F259.00", "description": "Early infant epileptic encephalopathy wth suppression bursts", "attributes": null }, { "code": "F2591", "description": "Ohtahara syndrome", "attributes": null }, { "code": "F259.11", "description": "Ohtahara syndrome", "attributes": null }, { "code": "F25G.", "description": "Severe myoclonic epilepsy in infancy", "attributes": null }, { "code": "F25G0", "description": "Severe myoclonic epilepsy in infancy", "attributes": null }, { "code": "F25G.00", "description": "Severe myoclonic epilepsy in infancy", "attributes": null }, { "code": "F25G1", "description": "Dravet syndrome", "attributes": null }, { "code": "F25G.11", "description": "Dravet syndrome", "attributes": null }, { "code": "F28y400", "description": "GLUT1 deficiency syndrome", "attributes": null }, { "code": "F28y4-1", "description": "Glucose transporter protein type 1 deficiency syndrome", "attributes": null }, { "code": "F28y411", "description": "Glucose transporter protein type 1 deficiency syndrome", "attributes": null }, { "code": "ZS82.", "description": "Acquired epileptic aphasia", "attributes": null }, { "code": "ZS820", "description": "Acquired epileptic aphasia", "attributes": null }, { "code": "ZS82.00", "description": "Acquired epileptic aphasia", "attributes": null }, { "code": "ZS821", "description": "Landau-Kleffner syndrome", "attributes": null }, { "code": "ZS82.11", "description": "Landau-Kleffner syndrome", "attributes": null } ] }, { "concept_id": 4692, "concept_version_id": 12137, "concept_name": "Developmental and epileptic encephalopathies", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH1934", "phenotype_version_id": 4535, "phenotype_name": "Epilepsy Syndromes", "code_attribute_header": null, "codes": [ { "code": "3456", "description": "Infantile spasms", "attributes": null }, { "code": "E754", "description": "Neuronal ceroid lipofuscinosis", "attributes": null }, { "code": "F803", "description": "Landau-Kleffner syndrome", "attributes": null }, { "code": "G404", "description": "Other generalized epilepsy and epileptic syndromes: This term includes Epilepsy with myoclonic absenses, myoclonic-astatic seizures, Infantile spasms, Lennox-Gastaut syndrome, Salaam attacks, Symptomatic early myoclonic encephalopathy, West syndrome", "attributes": null } ] }, { "concept_id": 4693, "concept_version_id": 12184, "concept_name": "Aetiology specific epilepsies", "coding_system": { "id": 5, "name": "Read codes v2", "description": "Read codes v2" }, "phenotype_id": "PH1934", "phenotype_version_id": 4535, "phenotype_name": "Epilepsy Syndromes", "code_attribute_header": null, "codes": [ { "code": "EMISNQGL2", "description": "GLUT1 deficiency syndrome", "attributes": null }, { "code": "^ESCT1204977", "description": "Hypothalamic hamartoma with gelastic seizure", "attributes": null }, { "code": "^ESCT1349343", "description": "Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS)", "attributes": null }, { "code": "^ESCTRA500472", "description": "Rasmussen encephalitis", "attributes": null }, { "code": "^ESCTST281552", "description": "Sturge-Weber disease", "attributes": null }, { "code": "F0352", "description": "Rasmussen syndrome", "attributes": null }, { "code": "F035200", "description": "Rasmussen syndrome", "attributes": null }, { "code": "F28y400", "description": "GLUT1 deficiency syndrome", "attributes": null }, { "code": "F28y4-1", "description": "Glucose transporter protein type 1 deficiency syndrome", "attributes": null }, { "code": "F28y411", "description": "Glucose transporter protein type 1 deficiency syndrome", "attributes": null }, { "code": "PK61.", "description": "Sturge-Weber syndrome", "attributes": null }, { "code": "PK610", "description": "Sturge-Weber syndrome", "attributes": null }, { "code": "PK61.00", "description": "Sturge-Weber syndrome", "attributes": null } ] }, { "concept_id": 4694, "concept_version_id": 12185, "concept_name": "Genetic Generalised Epilepsies (GGE) Specified. (Also known as: Epilepsy syndromes with generalised features)", "coding_system": { "id": 5, "name": "Read codes v2", "description": "Read codes v2" }, "phenotype_id": "PH1934", "phenotype_version_id": 4535, "phenotype_name": "Epilepsy Syndromes", "code_attribute_header": null, "codes": [ { "code": "^ESCT1363726", "description": "Familial infantile myoclonic epilepsy", "attributes": null }, { "code": "^ESCTJE774510", "description": "Jeavons syndrome", "attributes": null }, { "code": "^ESCTMY500766", "description": "Myoclonic absence epilepsy", "attributes": null }, { "code": "F2511", "description": "Neonatal myoclonic epilepsy", "attributes": null }, { "code": "F251100", "description": "Neonatal myoclonic epilepsy", "attributes": null } ] }, { "concept_id": 4695, "concept_version_id": 12186, "concept_name": "Idiopathic generalised epilepsy syndromes (IGEs)", "coding_system": { "id": 5, "name": "Read codes v2", "description": "Read codes v2" }, "phenotype_id": "PH1934", "phenotype_version_id": 4535, "phenotype_name": "Epilepsy Syndromes", "code_attribute_header": null, "codes": [ { "code": "^ESCTCH332385", "description": "Childhood absence epilepsy", "attributes": null }, { "code": "^ESCTID309315", "description": "Idiopathic generalised epilepsy", "attributes": null }, { "code": "^ESCTID309316", "description": "Idiopathic generalized epilepsy", "attributes": null }, { "code": "^ESCTJM259887", "description": "JME - Juvenile myoclonic epilepsy", "attributes": null }, { "code": "^ESCTRE751247", "description": "Refractory juvenile myoclonic epilepsy", "attributes": null }, { "code": "F2504", "description": "Juvenile absence epilepsy", "attributes": null }, { "code": "F250400", "description": "Juvenile absence epilepsy", "attributes": null }, { "code": "F25A.", "description": "Juvenile myoclonic epilepsy", "attributes": null }, { "code": "F25A0", "description": "Juvenile myoclonic epilepsy", "attributes": null }, { "code": "F25A.00", "description": "Juvenile myoclonic epilepsy", "attributes": null } ] }, { "concept_id": 4696, "concept_version_id": 12141, "concept_name": "Idiopathic generalised epilepsy syndromes (IGEs)", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH1934", "phenotype_version_id": 4535, "phenotype_name": "Epilepsy Syndromes", "code_attribute_header": null, "codes": [ { "code": "G403", "description": "Generalized idiopathic epilepsy and epileptic syndromes: Benign: myoclonic epilepsy in infancy, neonatal convulsions (familial), Childhood absence epilepsy [pyknolepsy], Epilepsy with grand mal seizures on awakening, Juvenile: absence epilepsy, myoclonic epilepsy [impulsive petit mal], Nonspecific epileptic seizures: atonic, clonic, myoclonic, tonic, tonic-clonic.", "attributes": null } ] }, { "concept_id": 4697, "concept_version_id": 12187, "concept_name": "Self limited focal epilepsies", "coding_system": { "id": 5, "name": "Read codes v2", "description": "Read codes v2" }, "phenotype_id": "PH1934", "phenotype_version_id": 4535, "phenotype_name": "Epilepsy Syndromes", "code_attribute_header": null, "codes": [ { "code": "^ESCT1205388", "description": "Recurrent benign focal seizures of childhood", "attributes": null }, { "code": "^ESCT1349309", "description": "Benign occipital lobe epilepsy", "attributes": null }, { "code": "^ESCT1349311", "description": "Benign partial epilepsy of infancy with complex partial seizures", "attributes": null }, { "code": "^ESCT1368624", "description": "Benign childhood epilepsy with centrotemporal spikes, refractory", "attributes": null }, { "code": "^ESCT1368627", "description": "Benign childhood epilepsy with centrotemporal spikes, non-refractory", "attributes": null }, { "code": "^ESCTBE274612", "description": "Benign focal epilepsy of childhood", "attributes": null }, { "code": "^ESCTBE476954", "description": "Benign myoclonic epilepsy in infancy", "attributes": null }, { "code": "^ESCTBE500710", "description": "Benign frontal epilepsy of childhood", "attributes": null }, { "code": "^ESCTBE500717", "description": "Benign occipital epilepsy of childhood - early onset variant", "attributes": null }, { "code": "^ESCTCE321095", "description": "Centrotemporal epilepsy", "attributes": null }, { "code": "^ESCTCH500714", "description": "Childhood epilepsy with occipital paroxysms", "attributes": null }, { "code": "F25y4", "description": "Benign Rolandic epilepsy", "attributes": null }, { "code": "F25y400", "description": "Benign Rolandic epilepsy", "attributes": null }, { "code": "F25y5", "description": "Panayiotopoulos syndrome", "attributes": null }, { "code": "F25y500", "description": "Panayiotopoulos syndrome", "attributes": null } ] }, { "concept_id": 4698, "concept_version_id": 12188, "concept_name": "Unspecified focal idiopathic epilepsy or epilepsy syndrome", "coding_system": { "id": 5, "name": "Read codes v2", "description": "Read codes v2" }, "phenotype_id": "PH1934", "phenotype_version_id": 4535, "phenotype_name": "Epilepsy Syndromes", "code_attribute_header": null, "codes": [ { "code": "^ESCT1170675", "description": "Intractable idiopathic partial epilepsy", "attributes": null }, { "code": "F25y2", "description": "Locl-rlt(foc)(part)idiop epilep&epilptic syn seiz locl onset", "attributes": null }, { "code": "F25y200", "description": "Locl-rlt(foc)(part)idiop epilep&epilptic syn seiz locl onset", "attributes": null } ] }, { "concept_id": 4699, "concept_version_id": 12144, "concept_name": "Unspecified focal idiopathic epilepsy or epilepsy syndrome ICD", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH1934", "phenotype_version_id": 4535, "phenotype_name": "Epilepsy Syndromes", "code_attribute_header": null, "codes": [ { "code": "G400", "description": "Localization-related (focal)(partial) idiopathic epilepsy and epileptic syndromes with seizures of localized onset", "attributes": null } ] }, { "concept_id": 4700, "concept_version_id": 12145, "concept_name": "Unspecified Idiopathic Generalised Epilepsy Syndrome or epilepsy syndrome with generalised features", "coding_system": { "id": 5, "name": "Read codes v2", "description": "Read codes v2" }, "phenotype_id": "PH1934", "phenotype_version_id": 4535, "phenotype_name": "Epilepsy Syndromes", "code_attribute_header": null, "codes": [ { "code": "Fyu50", "description": "[X]Other generalized epilepsy and epileptic syndromes", "attributes": null } ] }, { "concept_id": 4704, "concept_version_id": 12189, "concept_name": "Combined generalised and focal epilepsy syndrome", "coding_system": { "id": 5, "name": "Read codes v2", "description": "Read codes v2" }, "phenotype_id": "PH1934", "phenotype_version_id": 4535, "phenotype_name": "Epilepsy Syndromes", "code_attribute_header": null, "codes": [ { "code": "^ESCTPR500720", "description": "Primary inherited reading epilepsy", "attributes": null } ] }, { "concept_id": 4705, "concept_version_id": 12190, "concept_name": "Focal epilepsy syndromes with genetic, structural, or genetic–structural aetiologies", "coding_system": { "id": 5, "name": "Read codes v2", "description": "Read codes v2" }, "phenotype_id": "PH1934", "phenotype_version_id": 4535, "phenotype_name": "Epilepsy Syndromes", "code_attribute_header": null, "codes": [ { "code": "^ESCT1349122", "description": "Benign familial mesial temporal lobe epilepsy", "attributes": null }, { "code": "^ESCT1363280", "description": "Familial temporal lobe epilepsy", "attributes": null }, { "code": "^ESCT1363784", "description": "Familial mesial temporal lobe epilepsy with febrile seizures", "attributes": null } ] }, { "concept_id": 4706, "concept_version_id": 12191, "concept_name": "Genetic Generalised Epilepsies (Unspecified)", "coding_system": { "id": 5, "name": "Read codes v2", "description": "Read codes v2" }, "phenotype_id": "PH1934", "phenotype_version_id": 4535, "phenotype_name": "Epilepsy Syndromes", "code_attribute_header": null, "codes": [ { "code": "^ESCTCR500755", "description": "Cryptogenic generalised epilepsy", "attributes": null }, { "code": "^ESCTCR500777", "description": "Cryptogenic myoclonic epilepsy", "attributes": null }, { "code": "^ESCTID309315", "description": "Idiopathic generalised epilepsy", "attributes": null }, { "code": "^ESCTID309316", "description": "Idiopathic generalized epilepsy", "attributes": null }, { "code": "^ESCTID500778", "description": "Idiopathic myoclonic epilepsy", "attributes": null }, { "code": "^ESCTPR309317", "description": "Primary generalised epilepsy", "attributes": null } ] }, { "concept_id": 4707, "concept_version_id": 12192, "concept_name": "Unspecified infant onset epilepsy syndrome", "coding_system": { "id": 5, "name": "Read codes v2", "description": "Read codes v2" }, "phenotype_id": "PH1934", "phenotype_version_id": 4535, "phenotype_name": "Epilepsy Syndromes", "code_attribute_header": null, "codes": [ { "code": "^ESCT1183138", "description": "Infantile-onset symptomatic epilepsy syndrome", "attributes": null } ] }, { "concept_id": 4708, "concept_version_id": 12193, "concept_name": "All codes indicating epilepsy syndromes without further classification", "coding_system": { "id": 5, "name": "Read codes v2", "description": "Read codes v2" }, "phenotype_id": "PH1934", "phenotype_version_id": 4535, "phenotype_name": "Epilepsy Syndromes", "code_attribute_header": null, "codes": [ { "code": "C3151", "description": "MELAS", "attributes": null }, { "code": "C3272", "description": "Niemann-Pick disease", "attributes": null }, { "code": "EMISNQGL2", "description": "GLUT1 deficiency syndrome", "attributes": null }, { "code": "^ESCT1164424", "description": "Pyridoxine-dependent epilepsy", "attributes": null }, { "code": "^ESCT1170675", "description": "Intractable idiopathic partial epilepsy", "attributes": null }, { "code": "^ESCT1177804", "description": "Dravet Syndrome", "attributes": null }, { "code": "^ESCT1183138", "description": "Infantile-onset symptomatic epilepsy syndrome", "attributes": null }, { "code": "^ESCT1204977", "description": "Hypothalamic hamartoma with gelastic seizure", "attributes": null }, { "code": "^ESCT1205388", "description": "Recurrent benign focal seizures of childhood", "attributes": null }, { "code": "^ESCT1207699", "description": "STXBP1 encephalopathy with epilepsy", "attributes": null }, { "code": "^ESCT1349122", "description": "Benign familial mesial temporal lobe epilepsy", "attributes": null }, { "code": "^ESCT1349309", "description": "Benign occipital lobe epilepsy", "attributes": null }, { "code": "^ESCT1349311", "description": "Benign partial epilepsy of infancy with complex partial seizures", "attributes": null }, { "code": "^ESCT1349343", "description": "Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS)", "attributes": null }, { "code": "^ESCT1350026", "description": "Infantile epileptic dyskinetic encephalopathy", "attributes": null }, { "code": "^ESCT1357219", "description": "KCNQ2-related epileptic encephalopathy", "attributes": null }, { "code": "^ESCT1357293", "description": "Myoclonic epilepsy in non-progressive encephalopathy", "attributes": null }, { "code": "^ESCT1362418", "description": "Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome", "attributes": null }, { "code": "^ESCT1363280", "description": "Familial temporal lobe epilepsy", "attributes": null }, { "code": "^ESCT1363726", "description": "Familial infantile myoclonic epilepsy", "attributes": null }, { "code": "^ESCT1363784", "description": "Familial mesial temporal lobe epilepsy with febrile seizures", "attributes": null }, { "code": "^ESCT1368624", "description": "Benign childhood epilepsy with centrotemporal spikes, refractory", "attributes": null }, { "code": "^ESCT1368627", "description": "Benign childhood epilepsy with centrotemporal spikes, non-refractory", "attributes": null }, { "code": "^ESCT1379158", "description": "Myoclonic epilepsy with ragged red fibres", "attributes": null }, { "code": "^ESCTAT805326", "description": "Atypical absence epilepsy", "attributes": null }, { "code": "^ESCTBE274612", "description": "Benign focal epilepsy of childhood", "attributes": null }, { "code": "^ESCTBE476954", "description": "Benign myoclonic epilepsy in infancy", "attributes": null }, { "code": "^ESCTBE500710", "description": "Benign frontal epilepsy of childhood", "attributes": null }, { "code": "^ESCTBE500712", "description": "Benign atypical partial epilepsy in childhood", "attributes": null }, { "code": "^ESCTBE500717", "description": "Benign occipital epilepsy of childhood - early onset variant", "attributes": null }, { "code": "^ESCTCE321095", "description": "Centrotemporal epilepsy", "attributes": null }, { "code": "^ESCTCH332385", "description": "Childhood absence epilepsy", "attributes": null }, { "code": "^ESCTCH500714", "description": "Childhood epilepsy with occipital paroxysms", "attributes": null }, { "code": "^ESCTCR500755", "description": "Cryptogenic generalised epilepsy", "attributes": null }, { "code": "^ESCTCR500777", "description": "Cryptogenic myoclonic epilepsy", "attributes": null }, { "code": "^ESCTEA321568", "description": "Early myoclonic encephalopathy", "attributes": null }, { "code": "^ESCTEP500794", "description": "Epilepsy with continuous spike wave during slow-wave sleep", "attributes": null }, { "code": "^ESCTEP784067", "description": "Epileptic encephalopathy", "attributes": null }, { "code": "^ESCTEP795518", "description": "Epilepsy of infancy with migrating focal seizures (EIMFS)", "attributes": null }, { "code": "^ESCTID309315", "description": "Idiopathic generalised epilepsy", "attributes": null }, { "code": "^ESCTID309316", "description": "Idiopathic generalized epilepsy", "attributes": null }, { "code": "^ESCTID500778", "description": "Idiopathic myoclonic epilepsy", "attributes": null }, { "code": "^ESCTIN808972", "description": "Infantile spasms co-occurrent with status epilepticus", "attributes": null }, { "code": "^ESCTIN808973", "description": "Infantile spasms with status epilepticus", "attributes": null }, { "code": "^ESCTJE774510", "description": "Jeavons syndrome", "attributes": null }, { "code": "^ESCTJM259887", "description": "JME - Juvenile myoclonic epilepsy", "attributes": null }, { "code": "^ESCTKU350778", "description": "Kufs type neuronal ceroid lipofuscinosis", "attributes": null }, { "code": "^ESCTLA500792", "description": "Landau-Kleffner syndrome", "attributes": null }, { "code": "^ESCTMY500762", "description": "Myoclonic astatic epilepsy", "attributes": null }, { "code": "^ESCTMY500766", "description": "Myoclonic absence epilepsy", "attributes": null }, { "code": "^ESCTPR309317", "description": "Primary generalised epilepsy", "attributes": null }, { "code": "^ESCTPR500720", "description": "Primary inherited reading epilepsy", "attributes": null }, { "code": "^ESCTRA500472", "description": "Rasmussen encephalitis", "attributes": null }, { "code": "^ESCTRE751247", "description": "Refractory juvenile myoclonic epilepsy", "attributes": null }, { "code": "^ESCTST281552", "description": "Sturge-Weber disease", "attributes": null }, { "code": "^ESCTUN500768", "description": "Unverricht-Lundborg syndrome", "attributes": null }, { "code": "Eu803", "description": "Acquired epileptic aphasia", "attributes": null }, { "code": "Eu80300", "description": "[X]Acquired aphasia with epilepsy [Landau - Kleffner]", "attributes": null }, { "code": "F0352", "description": "Rasmussen syndrome", "attributes": null }, { "code": "F035200", "description": "Rasmussen syndrome", "attributes": null }, { "code": "F1010", "description": "Janksy-Bielschowsky disease (CLN2)", "attributes": null }, { "code": "F1011", "description": "Kufs Disease", "attributes": null }, { "code": "F1012", "description": "Batten's disease", "attributes": null }, { "code": "F1021", "description": "Cerebral degeneration in Niemann-Pick disease", "attributes": null }, { "code": "F10y0", "description": "Alper's disease", "attributes": null }, { "code": "F1321", "description": "Progressive myoclonic epilepsy", "attributes": null }, { "code": "F132100", "description": "Progressive myoclonic epilepsy", "attributes": null }, { "code": "F132111", "description": "Unverricht - Lundborg disease", "attributes": null }, { "code": "F1422", "description": "Dyssynergia cerebellaris myoclonica", "attributes": null }, { "code": "F142200", "description": "Dyssynergia cerebellaris myoclonica", "attributes": null }, { "code": "F2504", "description": "Juvenile absence epilepsy", "attributes": null }, { "code": "F250400", "description": "Juvenile absence epilepsy", "attributes": null }, { "code": "F2505", "description": "Lennox-Gastaut syndrome", "attributes": null }, { "code": "F250500", "description": "Lennox-Gastaut syndrome", "attributes": null }, { "code": "F2511", "description": "Neonatal myoclonic epilepsy", "attributes": null }, { "code": "F251100", "description": "Neonatal myoclonic epilepsy", "attributes": null }, { "code": "F251111", "description": "Otohara syndrome", "attributes": null }, { "code": "F256.", "description": "Infantile spasms", "attributes": null }, { "code": "F2560", "description": "Hypsarrhythmia", "attributes": null }, { "code": "F256.00", "description": "Infantile spasms", "attributes": null }, { "code": "F256000", "description": "Hypsarrhythmia", "attributes": null }, { "code": "F2561", "description": "Salaam attacks", "attributes": null }, { "code": "F256100", "description": "Salaam attacks", "attributes": null }, { "code": "F256.12", "description": "West syndrome", "attributes": null }, { "code": "F256z", "description": "Infantile spasms NOS", "attributes": null }, { "code": "F256z.", "description": "Infantile spasms NOS", "attributes": null }, { "code": "F256z00", "description": "Infantile spasms NOS", "attributes": null }, { "code": "F259.", "description": "Early infant epileptic encephalopathy wth suppression bursts", "attributes": null }, { "code": "F2590", "description": "Early infant epileptic encephalopathy wth suppression bursts", "attributes": null }, { "code": "F259.00", "description": "Early infant epileptic encephalopathy wth suppression bursts", "attributes": null }, { "code": "F2591", "description": "Ohtahara syndrome", "attributes": null }, { "code": "F259.11", "description": "Ohtahara syndrome", "attributes": null }, { "code": "F25A.", "description": "Juvenile myoclonic epilepsy", "attributes": null }, { "code": "F25A0", "description": "Juvenile myoclonic epilepsy", "attributes": null }, { "code": "F25A.00", "description": "Juvenile myoclonic epilepsy", "attributes": null }, { "code": "F25G.", "description": "Severe myoclonic epilepsy in infancy", "attributes": null }, { "code": "F25G0", "description": "Severe myoclonic epilepsy in infancy", "attributes": null }, { "code": "F25G.00", "description": "Severe myoclonic epilepsy in infancy", "attributes": null }, { "code": "F25G1", "description": "Dravet syndrome", "attributes": null }, { "code": "F25G.11", "description": "Dravet syndrome", "attributes": null }, { "code": "F25y2", "description": "Locl-rlt(foc)(part)idiop epilep&epilptic syn seiz locl onset", "attributes": null }, { "code": "F25y200", "description": "Locl-rlt(foc)(part)idiop epilep&epilptic syn seiz locl onset", "attributes": null }, { "code": "F25y4", "description": "Benign Rolandic epilepsy", "attributes": null }, { "code": "F25y400", "description": "Benign Rolandic epilepsy", "attributes": null }, { "code": "F25y5", "description": "Panayiotopoulos syndrome", "attributes": null }, { "code": "F25y500", "description": "Panayiotopoulos syndrome", "attributes": null }, { "code": "F28y400", "description": "GLUT1 deficiency syndrome", "attributes": null }, { "code": "F28y4-1", "description": "Glucose transporter protein type 1 deficiency syndrome", "attributes": null }, { "code": "F28y411", "description": "Glucose transporter protein type 1 deficiency syndrome", "attributes": null }, { "code": "Fyu50", "description": "[X]Other generalized epilepsy and epileptic syndromes", "attributes": null }, { "code": "PK61.", "description": "Sturge-Weber syndrome", "attributes": null }, { "code": "PK610", "description": "Sturge-Weber syndrome", "attributes": null }, { "code": "PK61.00", "description": "Sturge-Weber syndrome", "attributes": null }, { "code": "ZS82.", "description": "Acquired epileptic aphasia", "attributes": null }, { "code": "ZS820", "description": "Acquired epileptic aphasia", "attributes": null }, { "code": "ZS82.00", "description": "Acquired epileptic aphasia", "attributes": null }, { "code": "ZS821", "description": "Landau-Kleffner syndrome", "attributes": null }, { "code": "ZS82.11", "description": "Landau-Kleffner syndrome", "attributes": null } ] }, { "concept_id": 4709, "concept_version_id": 12194, "concept_name": "All codes indicating epilepsy syndromes without further classification", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH1934", "phenotype_version_id": 4535, "phenotype_name": "Epilepsy Syndromes", "code_attribute_header": null, "codes": [ { "code": "3456", "description": "Infantile spasms", "attributes": null }, { "code": "E754", "description": "Neuronal ceroid lipofuscinosis", "attributes": null }, { "code": "F803", "description": "Landau-Kleffner syndrome", "attributes": null }, { "code": "G400", "description": "Localization-related (focal)(partial) idiopathic epilepsy and epileptic syndromes with seizures of localized onset", "attributes": null }, { "code": "G403", "description": "Generalized idiopathic epilepsy and epileptic syndromes: Benign: myoclonic epilepsy in infancy, neonatal convulsions (familial), Childhood absence epilepsy [pyknolepsy], Epilepsy with grand mal seizures on awakening, Juvenile: absence epilepsy, myoclonic epilepsy [impulsive petit mal], Nonspecific epileptic seizures: atonic, clonic, myoclonic, tonic, tonic-clonic.", "attributes": null }, { "code": "G404", "description": "Other generalized epilepsy and epileptic syndromes: This term includes Epilepsy with myoclonic absenses, myoclonic-astatic seizures, Infantile spasms, Lennox-Gastaut syndrome, Salaam attacks, Symptomatic early myoclonic encephalopathy, West syndrome", "attributes": null } ] } ], "status": 1, "doi": "https://doi.org/10.48533/75nn-mc94", "is_deleted": false, "publish_status": 2, "owner": "kathryn.bush", "template": { "id": 1, "name": "Clinical-Coded Phenotype", "description": "Phenotype definitions that are based on lists of clinical codes, or algorithms using clinical codes.", "version_id": 1 }, "versions": [ { "version_id": 4535, "version_name": "Epilepsy Syndromes", "version_date": "2025-12-01T12:42:55.507681Z", "is_published": true, "is_latest": true }, { "version_id": 4534, "version_name": "Epilepsy Syndromes", "version_date": "2025-11-27T14:40:27.452333Z", "is_published": true, "is_latest": false } ] } ]