Congenital myasthenic syndromes

ICD-11 code : 8C61;

Preferred Label : Congenital myasthenic syndromes;

ICD-11 definition : 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.;

ICD-11 synonym : congenital and developmental myasthenia; developmental myasthenia;

ICD-11 inclusion : congenital myasthenia; Oppenheim disease; amyotonia congenita; congenital amyotonia;

Details

Origin ID

1515367530;

UMLS CUI

C0451670;

Automatic exact mappings (from CISMeF team)
- Congenital and developmental myasthenia [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- Congenital Myasthenic Syndrome [NCIt concept]
- Congenital and developmental myasthenia [ICD-10 Sub-category (who)]
- Congenital and developmental myasthenia (disorder) [SNOMED CT concept]
- Congenital myasthenic syndrome [ORDO Disease]
- Congenital myasthenic syndrome [MedDRA Preferred Term]
- Congenital myasthenic syndrome (disorder) [SNOMED CT concept]
- Myasthenic syndrome, congenital [OMIM phenotypic series]
- congenital myasthenic syndrome [DO Concept]
- myasthenic syndromes, congenital [MeSH Descriptor]
- myasthenic syndromes, congenital [MeSH concept]
ICD-10 Mapping
- Congenital and developmental myasthenia [ICD-10 Sub-category]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital and developmental myasthenia [ICD-10 Sub-category]
- Congenital and developmental myasthenia (disorder) [SNOMED CT concept]

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