autosomaal recessieve hereditaire aandoening
congenitaal defect in glycosylering type II
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congenitaal defect in glycosylering door mannosyloligosacharideglucosidase (aandoening)
congenitaal defect in glycosylering door mannosyloligosacharideglucosidase
Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation
Congenital disorder of glycosylation type 2b
MOGS CDG - mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation
Carbohydrate deficient glycoprotein syndrome type IIb
Glucosidase 1 deficiency
Congenital disorder of glycosylation 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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE77.8
TermOverige gespecificeerde stoornissen van glycoproteïnemetabolisme
SNOMED CT to Orphanet simple map79330
SNOMED CT to ICD-10 extended map
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