myasthenic syndromes, congenital

Preferred Label : myasthenic syndromes, congenital;

MeSH definition : A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7);

MeSH synonym : congenital myasthenic syndromes; congenital myasthenic syndrome; congenital myasthenia gravis; syndrome, congenital myasthenic; syndromes, congenital myasthenic; myasthenia gravis, congenital; myasthenic syndrome, congenital; Gravi, Congenital Myasthenia; congenital myasthenia; Congenital Myasthenias; Myasthenia, Congenital; Myasthenias, Congenital;

MeSH hyponym : myasthenic syndromes, congenital, slow channel; congenital myasthenic syndromes, presynaptic; congenital myasthenic syndromes, postsynaptic; Myasthenic Syndrome, Congenital, Slow-Channel; Slow-Channel Congenital Myasthenic Syndromes; Slow Channel Congenital Myasthenic Syndromes; Congenital Slow-Channel Myasthenic Syndromes; Congenital Slow Channel Myasthenic Syndromes; Presynaptic Congenital Myasthenic Syndromes; Postsynaptic Congenital Myasthenic Syndromes; Congenital Slow-Channel Myasthenic Syndrome; Congenital Slow Channel Myasthenic Syndrome; Slow-Channel Congenital Myasthenic Syndrome; Slow Channel Congenital Myasthenic Syndrome; Postsynaptic Congenital Myasthenic Syndrome; Presynaptic Congenital Myasthenic Syndrome;

MeSH annotation : do not confuse with MYASTHENIA GRAVIS, NEONATAL, a transient condition seen in neonates born to myasthenic mothers;

Wikipedia link : https://en.wikipedia.org/wiki/Congenital myasthenic syndrome;

Details

Origin ID

D020294;

UMLS CUI

C0751882;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Myasthenic syndrome, congenital, 1a, slow-channel [OMIM Phenotype]
- Myasthenic syndrome, congenital, 1b, fast-channel [OMIM Phenotype]
- Postsynaptic congenital myasthenic syndromes [ORDO Disease]
- Presynaptic congenital myasthenic syndromes [ORDO Disease]
- Slow channel syndrome (disorder) [SNOMED CT concept]
- Smith-mccort dysplasia 1 [OMIM Phenotype]
- somatomedin c [SNOMED Notion]
Currated CISMeF NLP mapping
- Congenital Myasthenic Syndrome [NCIt concept]
- 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]
DO Cross reference
- congenital myasthenic syndrome [DO Concept]
False automatic mappings
- Safety Monitoring Committee [NCIt concept]
Manual BTNT mappings - CISMeF
- Synaptic congenital myasthenic syndromes [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Channelopathy due to a skeletal muscle acetylcholine receptor defect [ORDO Disease]
- Genetic neuromuscular junction disease [ORDO Disease]
- Myasthenic syndrome with eye involvement [ORDO Disease]
- Sucking/swallowing disorder associated with a neuromuscular disease [ORDO Disease]
Ne pas confondre avec
- myasthenia gravis, neonatal [MeSH Descriptor]
ORDO relation(s)
- Congenital myasthenic syndrome [ORDO Disease]
Record concept(s)
- congenital myasthenic syndromes, postsynaptic [MeSH concept]
- congenital myasthenic syndromes, presynaptic [MeSH concept]
- myasthenic syndromes, congenital [MeSH concept]
- myasthenic syndromes, congenital, slow channel [MeSH concept]
Related MeSH Supplementary Concept(s)
- congenital myasthenic syndrome ib [MeSH Supplementary Concept]
- endplate acetylcholinesterase deficiency [MeSH Supplementary Concept]
- myasthenia, Limb-Girdle, autoimmune [MeSH Supplementary Concept]
- myasthenia, Limb-Girdle, with tubular aggregates [MeSH Supplementary Concept]
- myasthenia, congenital, refractory to acetylcholinesterase inhibitors [MeSH Supplementary Concept]
- myasthenia, familial infantile, 1 [MeSH Supplementary Concept]
- myasthenic syndrome due to mutation in SCN4A [MeSH Supplementary Concept]
- myasthenic syndrome, congenital, Fast-Channel [MeSH Supplementary Concept]
- myasthenic syndrome, congenital, associated with facial dysmorphism [MeSH Supplementary Concept]
- myasthenic syndrome, congenital, ie [MeSH Supplementary Concept]
- myasthenic syndrome, congenital, postsynaptic slow-channel [MeSH Supplementary Concept]
- myasthenic syndrome, congenital, type id [MeSH Supplementary Concept]
- myasthenic syndrome, congenital, with facial dysmorphism, associated with acetylcholine receptor deficiency [MeSH Supplementary Concept]
- myopathy, congenital, Compton-North [MeSH Supplementary Concept]
- pierson syndrome [MeSH Supplementary Concept]
See also
- myasthenia gravis [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Myasthenic Syndrome [NCIt 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.)]
Validated automatic mappings to BTNT
- slow channel congenital myasthenic syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients