8C61 Congenital myasthenic syndromes
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
Congenital myasthenic syndrome is a heterogeneous group of genetically determined diseases. There are four well-defined categories: Congenital myasthenic syndrome with presynaptic defect, Synaptic basal lamina-associated CMS, Congenital myasthenia with postsynaptic defect, CMS with glycosylation deficiency, and the remaining category is that of unidentified CMS.
synonyms
- Congenital myasthenic syndromes
- congenital and developmental myasthenia
- developmental myasthenia
- congenital myasthenia
- Congenital endplate acetylcholine receptor deficiency
- congenital defects in acetylcholine receptor subunits
- Congenital slow channel syndrome
- Congenital myasthenia with presynaptic defect
- Congenital myasthenia with postsynaptic defect
- post synaptic congenital myasthenic syndrome
- Congenital myasthenic syndrome with glycosylation deficiency
- Congenital myasthenia with synaptic basal lamina defects
- Congenital myasthenia with congenital endplate acetylcholinesterase deficiency
- Familial infantile myasthenia
- Limb-girdle myasthenia, familial
- Limb-girdle myasthenia, nonfamilial
- myasthenic myopathy, nonfamilial
- Certain specified congenital or developmental myasthenia
- inherited neuromuscular disorders
- Congenital amyotonia
- amyotonia congenita
- Oppenheim disease
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