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

International Classification of Disease (ICD) Revision 11

https://icd.who.int/browse11/l-m/en

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

http://apps.who.int/classifications/icd10/browse/2016/en

G70.2: Congenital and developmental myasthenia

Not present

Medical Subject Headings (MeSH)

https://meshb.nlm.nih.gov/search

C16.320.590: Myasthenic Syndromes, Congenital

Not present

Systematized Nomenclature of Medicine – Clinical Terms (SNOMED CT)

http://browser.ihtsdotools.org/

230672006: Congenital myasthenia (disorder)

Not present

Orphanet nomenclature of rare diseases

https://www.orpha.net/consor/cgi-bin/Disease.php?lng=EN

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)

http://omim.org/

N/A

Coding of 28 out of 39 entities with “phenotype MIM number” (for detail see Table 2)

No hierarchies/ontological features