autosomaal recessieve hereditaire aandoening	congenitaal defect in glycosylering type II
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'coiled-coil domain containing 115' congenitaal defect in glycosylering (aandoening)
	CCDC115 congenitaal defect in glycosylering
	CCDC115-CDG CDG-syndroom type IIo 'coiled-coil domain containing 115' congenitaal defect in glycosylering
	CCDC115 congenital disorder of glycosylation
	CCDC115-CDG - coiled-coil domain containing 115 congenital disorder of glycosylation Carbohydrate deficient glycoprotein syndrome type IIo Coiled-coil domain containing 115 congenital disorder of glycosylation Congenital disorder of glycosylation type IIo Congenital disorder of glycosylation type 2o
	A rare congenital disorder of glycosylation characterized by infantile onset of hepatosplenomegaly, progressive liver failure, hypotonia and global developmental delay. Mild dysmorphic features and seizures have also been reported. Laboratory abnormalities include elevated liver enzymes, mild hypercholesterolemia and low serum ceruloplasmin.

Id	1187174002
Status	Primitive

Occurrence

SNOMED CT to Orphanet simple map

468684

SNOMED CT to ICD-10 extended map

Target	E77.8
Rule	TRUE
Advice	ALWAYS E77.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified