Congenital Myasthenic Syndrome

Preferred Label : Congenital Myasthenic Syndrome;

NCIt definition : A group of rare genetic neuromuscular disorders characterized by neuromuscular junction defects. The defects are classified as presynaptic, synaptic, or postsynaptic. Signs and symptoms include muscle weakness, easy fatigability, feeding and respiratory difficulties, and scoliosis.;

Details

Origin ID

C84647;

UMLS CUI

C0751882;

Automatic exact mappings (from CISMeF team)
- myasthenic syndrome, congenital, ie [MeSH concept]
Currated CISMeF NLP mapping
- Congenital myasthenic syndrome [MedDRA Preferred Term]
- Congenital myasthenic syndrome [ORDO Disease]
- Congenital myasthenic syndrome (disorder) [SNOMED CT concept]
- Congenital myasthenic syndromes [ICD-11 Category]
- Myasthenic syndrome, congenital [OMIM phenotypic series]
- congenital myasthenic syndrome [Disease (Nov.)]
- congenital myasthenic syndrome [DO Concept]
- myasthenic syndromes, congenital [MeSH Descriptor]
- myasthenic syndromes, congenital [MeSH concept]
DO Cross reference
- congenital myasthenic syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital myasthenic syndrome [ORDO Disease]
- Congenital myasthenic syndrome [MedDRA Preferred Term]
- Congenital myasthenic syndrome (disorder) [SNOMED CT concept]
- congenital myasthenic syndrome [DO Concept]
- congenital myasthenic syndrome [Disease (Nov.)]
- myasthenic syndromes, congenital [MeSH Descriptor]
- myasthenic syndromes, congenital [MeSH concept]
Validated automatic mappings to BTNT
- myasthenic syndrome, congenital, ie [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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