Autosomal recessive hereditary disorder
Carbohydrate-deficient glycoprotein syndrome type I
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Congenital disorder of glycosylation type 1x (disorder)
Congenital disorder of glycosylation type 1x
Carbohydrate deficient glycoprotein syndrome type Ix
STT3B-CDG (congenital disorder of glycosylation)
Congenital disorder of glycosylation type Ix
A form of congenital disorders of N-linked glycosylation with characteristics of intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. Caused by mutations in the gene STT3B (3p24.1).
congenitaal defect in glycosylering type Ix
CDG-syndroom type Ix
Id733112007
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