Myoclonic Epilepsy of Unverricht and Lundborg

Preferred Label : Myoclonic Epilepsy of Unverricht and Lundborg;

NCIt synonyms : Unverricht-Lundborg Disease; ULD; EPM1A; Epilepsy, Progressive, Myoclonic 1A;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the CSTB gene, encoding cystatin-B. It is characterized by progressive myoclonic epilepsy, with progression occurring between 6 and 13 years of age.;

Details

Origin ID

C179710;

UMLS CUI

C0751785;

Automatic exact mappings (from CISMeF team)
- Baltic myoclonic epilepsy [MedDRA Preferred Term]
- Myoclonic epilepsy of unverricht and lundborg [OMIM Phenotype]
- Progressive myoclonic epilepsy type 1 [ORDO Disease]
- Unverricht-Lundborg disease [MedDRA LLT]
- Unverricht-Lundborg syndrome [DO Concept]
- Unverricht-Lundborg syndrome (disorder) [SNOMED CT concept]
- progressive myoclonus epilepsy 1A [DO Concept]
- unverricht-lundborg syndrome [MeSH Descriptor]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
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 [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 [MeSH concept]
- Unverricht-Lundborg syndrome [DO Concept]
- Unverricht-Lundborg syndrome (disorder) [SNOMED CT concept]
- unverricht-lundborg syndrome [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
disease_mapped_to_gene
- CSTB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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