Congenital Myasthenic Syndrome-4C

Preferred Label : Congenital Myasthenic Syndrome-4C;

NCIt synonyms : Myasthenic Syndrome, Congenital, 4C, Associated with Acetylcholine Receptor Deficiency; CMS4C;

NCIt definition : An autosomal recessive form of congenital myasthenic syndrome caused by mutation(s) in the CHRNE gene, encoding acetylcholine receptor subunit epsilon.;

Details

Origin ID

C174216;

UMLS CUI

C1837091;

Currated CISMeF NLP mapping
- Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency [OMIM Phenotype]
- Myasthenic syndrome, congenital, type id [MeSH concept]
- congenital myasthenic syndrome 4C [DO Concept]
- myasthenic syndrome, congenital, type id [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency [OMIM Phenotype]
- Myasthenic syndrome, congenital, type id [MeSH concept]
- myasthenic syndrome, congenital, type id [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CHRNE Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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