Carbohydrate-deficient glycoprotein syndrome type I
X-linked recessive hereditary disease
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Congenital disorder of glycosylation type 1s (disorder)
Congenital disorder of glycosylation type 1s
ALG13-CDG (congenital disorder of glycosylation)
Congenital disorder of glycosylation type Is
A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures and recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).
congenitaal defect in glycosylering type 1s
CDG-1s
ALG13-CDG
aangeboren defect in glycosylering type Is
CDG-syndroom type Is
Id733451007
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