endplate acetylcholinesterase deficiency

Preferred Label : endplate acetylcholinesterase deficiency;

MeSH synonym : engel congenital myasthenic syndrome; myasthenic syndrome, congenital, engel type; congenital myasthenic syndrome type ic;

Details

Origin ID

C566415;

UMLS CUI

C1864233;

CISMeF manual mappings
- Congenital end-plate acetylcholinesterase deficiency (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Congenital Myasthenic Syndrome 5 [NCIt concept]
- Myasthenic syndrome, congenital, 5 [OMIM Phenotype]
- congenital myasthenic syndrome 5 [DO Concept]
MeSH term(s) associated for indexing
- myasthenic syndromes, congenital [MeSH Descriptor]
Record concept(s)
- endplate acetylcholinesterase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Myasthenic Syndrome 5 [NCIt concept]
- Myasthenic syndrome, congenital, 5 [OMIM Phenotype]
- congenital myasthenic syndrome 5 [DO Concept]

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