epilepsies, myoclonic

Preferred Label : epilepsies, myoclonic;

Obsolete resource : false;

MeSH definition : A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).; A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic.;

MeSH synonym : epilepsy, myoclonic; myoclonic seizure disorders; seizure disorders, myoclonic; myoclonus epilepsies; myoclonic seizure disorder; myoclonic epilepsies; myoclonic epilepsy; seizure disorder, myoclonic; epilepsy, myoclonus; myoclonus epilepsy;

CISMeF synonym : Dravet; disorder, myoclonic seizure; syndrome, dravet; syndromes, dravet; disorders, myoclonic seizure; absence epilepsies, myoclonic; absence epilepsy, myoclonic;

DeCS synonym : Doose Syndrome;

MeSH hyponym : benign infantile myoclonic epilepsy; idiopathic myoclonic epilepsy; myoclonic absence epilepsy; myoclonic encephalopathy; symptomatic myoclonic epilepsy; myoclonic astatic epilepsy; early childhood epilepsy, myoclonic; epilepsy, myoclonic, infantile, severe; epilepsy, myoclonic, infantile; Epilepsies, Idiopathic Myoclonic; Epilepsy, Idiopathic Myoclonic; Idiopathic Myoclonic Epilepsies; Myoclonic Epilepsies, Idiopathic; Myoclonic Epilepsy, Idiopathic; Cryptogenic Myoclonic Epilepsy; Cryptogenic Myoclonic Epilepsies; Epilepsies, Cryptogenic Myoclonic; Epilepsy, Cryptogenic Myoclonic; Myoclonic Epilepsies, Cryptogenic; Myoclonic Epilepsy, Cryptogenic; Epilepsies, Myoclonic Absence; Epilepsy, Myoclonic Absence; Myoclonic Absence Epilepsies; Myoclonic Epilepsy, Infantile; Epilepsies, Infantile Myoclonic; Epilepsy, Infantile Myoclonic; Infantile Myoclonic Epilepsies; Infantile Myoclonic Epilepsy; Myoclonic Epilepsies, Infantile; Encephalopathies, Myoclonic; Myoclonic Encephalopathies; Encephalopathy, Myoclonic; Epilepsies, Symptomatic Myoclonic; Epilepsy, Symptomatic Myoclonic; Myoclonic Epilepsies, Symptomatic; Myoclonic Epilepsy, Symptomatic; Symptomatic Myoclonic Epilepsies; Myoclonic Epilepsy, Benign Infantile; Myoclonic Epilepsy, Infantile, Benign; Epilepsy, Myoclonic, Infantile, Benign; Myoclonic Epilepsy, Early Childhood; Epilepsy, Myoclonic, Early Childhood; Early Childhood, Myoclonic Epilepsy; Epilepsy, Early Childhood, Myoclonic; Myoclonic Epilepsy, Infantile, Severe; Myoclonic Epilepsy, Severe Infantile; Myoclonic Epilepsy, Severe, Of Infancy; Severe Myoclonic Epilepsy, Infantile; Severe Myoclonic Epilepsy Of Infancy; Dravet Syndrome; Dravet Syndromes; Infantile Severe Myoclonic Epilepsy; Severe Infantile Myoclonic Epilepsy; Astatic Epilepsies, Myoclonic; Astatic Epilepsy, Myoclonic; Epilepsies, Myoclonic Astatic; Epilepsy, Myoclonic Astatic; Myoclonic Astatic Epilepsies; Doose Syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Myoclonic astatic epilepsy;

Details

Origin ID

D004831;

UMLS CUI

C0014550;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Cryptogenic myoclonic epilepsy (disorder) [SNOMED CT concept]
- Developmental and Epileptic Encephalopathy 2 [NCIt concept]
- Developmental and Epileptic Encephalopathy 6A [NCIt concept]
- Doose syndrome [MedDRA LLT]
- Dravet Syndrome [NCIt concept]
- Dravet syndrome [MedDRA LLT]
- Dravet syndrome [PASCAL descriptor]
- Dravet syndrome [DO Concept]
- Dravet syndrome [DO Concept]
- Dravet syndrome [ICD-11 Sub-sub category]
- Dravet syndrome [ORDO Disease]
- Epilepsy with myoclonic absence (disorder) [SNOMED CT concept]
- Epilepsy with myoclonic absences [ORDO Disease]
- Epilepsy with myoclonic-astatic seizures [ICD-11 Sub-sub category]
- Epilepsy with myoclonic-atonic seizures [MedDRA Preferred Term]
- Epilepsy with myoclonic-atonic seizures (disorder) [SNOMED CT concept]
- Generalized idiopathic epilepsy and epileptic syndromes [ICD-10 Sub-category (who)]
- Idiopathic myoclonic epilepsy (disorder) [SNOMED CT concept]
- Myoclonic Encephalopathy [TUV Concept]
- Myoclonic Encephalopathy [TUV Term]
- Myoclonic encephalopathy (disorder) [SNOMED CT concept]
- Myoclonic epilepsy in early childhood [ICD-11 More detail]
- Myoclonic epilepsy in infancy (disorder) [SNOMED CT concept]
- Myoclonic epilepsy of early childhood (disorder) [SNOMED CT concept]
- Myoclonic epilepsy of infancy [ORDO Disease]
- Myoclonic-astatic epilepsy [ORDO Disease]
- Other generalized epilepsy and epileptic syndromes [ICD-10 Sub-category]
- Other generalized epilepsy and epileptic syndromes [ICD-10 Sub-category (who)]
- Severe myoclonic epilepsy in infancy (disorder) [SNOMED CT concept]
- Severe myoclonic epilepsy of infancy [MedDRA Preferred Term]
- Symptomatic myoclonic epilepsy (disorder) [SNOMED CT concept]
- early myoclonic encephalopathy [SNOMED Notion]
- early myoclonic encephalopathy [DO Concept]
CISMeF manual mappings
- Epileptic seizures - myoclonic (disorder) [Inactive SNOMED CT concept]
Currated CISMeF NLP mapping
- Myoclonic epilepsy [MedDRA Preferred Term]
- Myoclonic seizure (disorder) [SNOMED CT concept]
- myoclonic epilepsy [Disease (Nov.)]
- myoclonic seizures [SNOMED Notion]
DO Cross reference
- early myoclonic encephalopathy [DO Concept]
HPO term
- Generalized myoclonic seizure [HPO term]
- Generalized myoclonic-atonic seizure [HPO term]
Manual NTBT mappings (CISMeF)
- Channelopathy due to a voltage-gated sodium channel defect [ORDO Disease]
- Channelopathy with epilepsy [ORDO Disease]
- Childhood-onset epilepsy syndrome [ORDO Disease]
- Infantile epilepsy syndrome [ORDO Disease]
- Neurological channelopathy of the central nervous system due to a genetic sodium channel defect [ORDO Disease]
Record concept(s)
- benign infantile myoclonic epilepsy [MeSH concept]
- early childhood epilepsy, myoclonic [MeSH concept]
- epilepsies, myoclonic [MeSH concept]
- epilepsy, myoclonic, infantile [MeSH concept]
- epilepsy, myoclonic, infantile, severe [MeSH concept]
- idiopathic myoclonic epilepsy [MeSH concept]
- myoclonic absence epilepsy [MeSH concept]
- myoclonic astatic epilepsy [MeSH concept]
- myoclonic encephalopathy [MeSH concept]
- symptomatic myoclonic epilepsy [MeSH concept]
Related MeSH Supplementary Concept(s)
- ataxia with myoclonic epilepsy and presenile dementia [MeSH Supplementary Concept]
- deafness, congenital, and familial myoclonic epilepsy [MeSH Supplementary Concept]
- epilepsy, familial adult myoclonic, 3 [MeSH Supplementary Concept]
- epilepsy, myoclonic, benign adult familial, type 1 [MeSH Supplementary Concept]
- epilepsy, myoclonic, benign adult familial, type 2 [MeSH Supplementary Concept]
- familial encephalopathy with neuroserpin inclusion bodies [MeSH Supplementary Concept]
- feigenbaum bergeron richardson syndrome [MeSH Supplementary Concept]
- hydroxylysinuria [MeSH Supplementary Concept]
- myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders [MeSH Supplementary Concept]
- myoclonic epilepsy, hartung type [MeSH Supplementary Concept]
- photoparoxysmal response 3 [MeSH Supplementary Concept]
- spastic paraplegia with myoclonic epilepsy [MeSH Supplementary Concept]
See also
- NAV1.1 Voltage-Gated sodium channel [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myoclonic epilepsy [MedDRA Preferred Term]
- early myoclonic encephalopathy [DO Concept]
- myoclonic seizures [SNOMED Notion]
Validated automatic mappings to BTNT
- Dravet syndrome [OMIM Phenotype]
- Progressive myoclonic epilepsy [ORDO Disease]
- myoclonic astatic epilepsy [Disease (Nov.)]
- severe myoclonic epilepsy of infancy [Disease (Nov.)]

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