unverricht-lundborg syndrome

Preferred Label : unverricht-lundborg syndrome;

MeSH definition : An autosomal recessive condition characterized by recurrent myoclonic and generalized seizures, ATAXIA, slowly progressive intellectual deterioration, dysarthria, and intention tremor. Myoclonic seizures are severe and continuous, and tend to be triggered by movement, stress, and sensory stimuli. The age of onset is between 8 and 13 years, and the condition is relatively frequent in the Baltic region, especially Finland. (From Menkes, Textbook of Child Neurology, 5th ed, pp109-110);

MeSH synonym : mediterranean myoclonic epilepsy; lundborg unverricht syndrome; syndrome, lundborg-unverricht; baltic myoclonus; syndrome, unverricht-lundborg; myoclonus epilepsies, baltic; myoclonic epilepsy, mediterranean; baltic myoclonus epilepsy; baltic myoclonus epilepsies; epilepsies, baltic myoclonus; epilepsy, baltic myoclonus; myoclonus epilepsy, baltic; lundborg-unverricht syndrome; myoclonus, baltic; unverricht disease; disease, unverricht; diseases, unverricht; unverricht diseases; epilepsy, mediterranean myoclonic; epilepsy, progressive myoclonic type 1; epilepsy, progressive myoclonus 1; myoclonic epilepsy of unverricht and lundborg; myoclonus progressive epilepsy of unverricht and lundborg; progressive myoclonus epilepsybaltic myoclonic epilepsy; unverricht lundborg syndrome; baltic myoclonic epilepsy; baltic myoclonic epilepsies; epilepsies, baltic myoclonic; epilepsy, baltic myoclonic; myoclonic epilepsies, baltic; myoclonic epilepsy, baltic; epilepsy, progressive myoclonic 1; epilepsy, progressive myoclonic 1a; progressive myoclonus epilepsy 1; Unverricht-Lundborg disease; disease, Unverricht-Lundborg; diseases, Unverricht-Lundborg; unverricht lundborg disease; Unverricht-Lundborg diseases;

CISMeF synonym : Unverricht-Lundborg; unverricht-lundborg's syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Unverricht-lundborg syndrome;

Details

Origin ID

D020194;

UMLS CUI

C0751785;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [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)
- Myoclonic Epilepsy of Unverricht and Lundborg [NCIt concept]
- Progressive myoclonic epilepsy type 1 [ICD-11 More detail]
- progressive myoclonic epilepsy [SNOMED Notion]
Currated CISMeF NLP mapping
- Baltic myoclonic epilepsy [MedDRA Preferred Term]
- Myoclonic epilepsy of unverricht and lundborg [OMIM Phenotype]
- Progressive myoclonic epilepsy type 1 [ORDO Disease]
- Unverricht Lundborg syndrome [Disease (Nov.)]
- Unverricht's syndrome [MedDRA LLT]
- Unverricht-Lundborg disease [MedDRA LLT]
- Unverricht-Lundborg syndrome [DO Concept]
- Unverricht-Lundborg syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Unverricht-Lundborg syndrome [DO Concept]
ORDO relation(s)
- Progressive myoclonic epilepsy type 1 [ORDO Disease]
Record concept(s)
- Unverricht-Lundborg syndrome [MeSH concept]
See also
- cystatin B [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Baltic myoclonic epilepsy [MedDRA Preferred Term]
- Myoclonic Epilepsy of Unverricht and Lundborg [NCIt concept]
- Myoclonic epilepsy of unverricht and lundborg [OMIM Phenotype]
- Progressive myoclonic epilepsy type 1 [ORDO Disease]
- Unverricht Lundborg syndrome [Disease (Nov.)]
- Unverricht's syndrome [MedDRA LLT]
- Unverricht-Lundborg disease [MedDRA LLT]
- Unverricht-Lundborg syndrome [DO Concept]
- Unverricht-Lundborg syndrome (disorder) [SNOMED CT concept]

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