autosomaal recessieve hereditaire aandoening
congenitaal defect in glycosylering type I
congenitale myasthenie
hereditaire stoornis van metabolisme van zenuwstelsel
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Congenital myasthenic syndrome with glycosylation defect due to ALG14 UDP-N-acetylglucosaminyltransferase subunit gene mutation (disorder)
Congenital myasthenic syndrome with glycosylation defect due to ALG14 UDP-N-acetylglucosaminyltransferase subunit gene mutation
Congenital myasthenic syndrome with ALG14-CDG (congenital disorder of glycosylation)
Congenital myasthenic syndrome with glycosylation defect due to ALG14 gene mutation
Id1366554003
StatusPrimitive
Finding sitestructuur van skeletspier
Pathological processproces van overgevoeligheid
Finding sitestructuur van neuromusculaire overgang
Occurrencecongenitaal
Pathological processauto-immuunproces
SNOMED CT to ICD-10 extended map
TargetG70.2
RuleTRUE
AdviceALWAYS G70.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified