Autosomal recessive hereditary disorder
Carbohydrate-deficient glycoprotein syndrome type I
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Congenital disorder of glycosylation type 1i (disorder)
Congenital disorder of glycosylation type 1i
Mannosyltransferase 2 deficiency
A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.
congenitaal defect in glycosylering type Ii
CDG-syndroom type 1i
CDG-Ii
Id897592003
StatusPrimitive
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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