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Table 1 Coverage of congenital myasthenic syndromes by the major medical coding systems

From: A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

Coding system Terminology browser used Coding for congenital myasthenic syndromes class/category Coding for individual CMS types
International Classification of Disease (ICD) Revision 11 8C61: Congenital myasthenic syndromes No coding but textual description of four categories:
Congenital myasthenic syndrome with presynaptic defect, Synaptic basal lamina-associated CMS, Congenital myasthenia with postsynaptic defect, CMS with glycosylation deficiency, Unidentified CMS.
International Classification of Disease (ICD) Revision 10 G70.2: Congenital and developmental myasthenia Not present
Medical Subject Headings (MeSH) C16.320.590: Myasthenic Syndromes, Congenital Not present
Systematized Nomenclature of Medicine – Clinical Terms (SNOMED CT) 230672006: Congenital myasthenia (disorder) Not present
Orphanet nomenclature of rare diseases ORPHA:590: Congenital myasthenic syndrome Most granular level is absent. Subclasses are defined:
Postsynaptic congenital myasthenic syndromes
Presynaptic congenital myasthenic syndromes
Synaptic congenital myasthenic syndromes
Congenital myasthenic syndromes with glycosylation defect
Online Mendelian Inheritance in Man (OMIM) N/A Coding of 28 out of 39 entities with “phenotype MIM number” (for detail see Table 2)
No hierarchies/ontological features