congenital myasthenic syndrome with episodic apnea

Preferred Label : congenital myasthenic syndrome with episodic apnea;

MeSH synonym : myasthenic syndrome, presynaptic, congenital, associated with episodic apnea; myasthenic syndrome congenital associated with episodic apnea; congenital myasthenic syndrome type 1a; myasthenia familial infantile; congenital myasthenic syndrome type ia; myasthenia, familial infantile; myasthenic syndrome, congenital, associated with episodic apnea;

Details

Origin ID

C535759;

UMLS CUI

C0393929;

Automatic exact mappings (from CISMeF team)
- Familial infantile myasthenia [ICD-11 More detail]
- Myasthenic syndrome, congenital, 1a, slow-channel [OMIM Phenotype]
Currated CISMeF NLP mapping
- Familial infantile myasthenia (disorder) [SNOMED CT concept]
- Myasthenic syndrome, congenital, 6, presynaptic [OMIM Phenotype]
- Presynaptic Congenital Myasthenic Syndrome 6 [NCIt concept]
- congenital myasthenic syndrome 6 [DO Concept]
MeSH term(s) associated for indexing
- apnea [MeSH Descriptor]
- myasthenia gravis [MeSH Descriptor]
Record concept(s)
- Congenital myasthenic syndrome with episodic apnea [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial infantile myasthenia (disorder) [SNOMED CT concept]
- Myasthenic syndrome, congenital, 6, presynaptic [OMIM Phenotype]
- Presynaptic Congenital Myasthenic Syndrome 6 [NCIt concept]
- congenital myasthenic syndrome 6 [DO Concept]

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