Congenital myasthenic syndrome

Congenital myasthenic syndrome (disorder)

active

Code	`230672006`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20190731

Synonyms

Congenital myasthenia
Congenital myasthenia syndrome

Parents (2)

66091009Congenital disease disorder
230669004Genetically determined myasthenia disorder

Children (5)

230671004Acetylcholine resynthesis deficiency disorder
230673001Congenital end-plate acetylcholine receptor deficiency disorder
230677000Congenital end-plate acetylcholinesterase deficiency disorder
1366554003Congenital myasthenic syndrome with glycosylation defect due to ALG14 UDP-N-acetylglucosaminyltransferase subunit gene mutation disorder
230670003Familial infantile myasthenia disorder