||
congenitaal defect in glycosylering door mannosyloligosacharideglucosidase (aandoening)
congenitaal defect in glycosylering door mannosyloligosacharideglucosidase
Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation
Glucosidase 1 deficiency
Congenital disorder of glycosylation type IIb
Congenital disorder of glycosylation type 2b
MOGS CDG - mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation
Carbohydrate deficient glycoprotein syndrome type IIb
A form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).
Id725028009
StatusPrimitive
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE77.8
RuleTRUE
AdviceALWAYS E77.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified