autosomaal recessieve hereditaire aandoening	congenitaal defect in glycosylering type I	congenitale myasthenie	hereditaire stoornis van metabolisme van zenuwstelsel	myastheen syndroom door andere aandoening	neuropathie door stoornis van metabolisme	secundaire myopathie
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congenitale myasthenie met defect in glycolysering door mutatie in 'ALG14 UDP-N-acetylglucosaminyltransferase subunit'-gen (aandoening)
	congenitale myasthenie met defect in glycolysering door mutatie in 'ALG14 UDP-N-acetylglucosaminyltransferase subunit'-gen
	congenitale myasthenie met ALG14-CDG congenitale myasthenie met defect in glycolysering door mutatie in ALG14-gen
	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

Id	1366554003
Status	Primitive

Finding site

structuur van skeletspier

Pathological process

proces van overgevoeligheid

Finding site	structuur van neuromusculaire overgang
Occurrence	congenitaal
Pathological process	auto-immuunproces

Due to

Deficiency of ALG14 UDP-N-acetylglucosamine transferase

SNOMED CT to ICD-10 extended map

Target	G70.2
Rule	TRUE
Advice	ALWAYS G70.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified