Preferred Label : Certain specified neuromuscular junction disorder;
ICD-11 definition : Neuromuscular junction disorders result from damage, malfunction or absence of one
or more key proteins involved in neuromuscular transmission. The most common pathology
is antibody-mediated lesion or down regulation of ion channels or receptors, resulting
in myasthenia gravis, Lambert-Eaton myasthenic syndrome, and acquired neuromyotonia
(or Isaac's syndrome). A second important group of disorders are the congenital myasthenic
syndromes caused by mutations in neuromuscular junction proteins.;
ICD-11 synonym : neuromyopathy; disease of neuromuscular system; myoneural disease; disorder of neuromuscular system; combined disorder of muscle and peripheral nerve; myoneural disorder; neuromuscular disorder;
ICD-11 inclusion : neuromuscular system disease;
Origin ID : 544766529;
Automatic exact mappings (from CISMeF team)
Neuromuscular junction disorders result from damage, malfunction or absence of one
or more key proteins involved in neuromuscular transmission. The most common pathology
is antibody-mediated lesion or down regulation of ion channels or receptors, resulting
in myasthenia gravis, Lambert-Eaton myasthenic syndrome, and acquired neuromyotonia
(or Isaac's syndrome). A second important group of disorders are the congenital myasthenic
syndromes caused by mutations in neuromuscular junction proteins.