Autosomal recessive hereditary disorder
Carbohydrate-deficient glycoprotein syndrome type I
||
Congenital disorder of glycosylation type 1e (disorder)
Congenital disorder of glycosylation type 1e
Dolichol-phosphate-mannose synthase 1 deficiency
DPM1-CDG - dolichyl-phosphate mannosyltransferase 1 catalytic subunit congenital disorder of glycosylation
Carbohydrate deficient glycoprotein syndrome type Ie
Syndrome with characteristics of psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common. The syndrome has been described in seven children. It is caused by mutations in the DPM gene (in the q13.13 region of chromosome 20) leading to a deficiency in the endoplasmic reticulum enzyme dolichol-P-mannose synthase 1.
congenitaal defect in glycosylering type Ie
CDG-syndroom type Ie
Id725078006
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