Autosomal recessive hereditary disorder
Carbohydrate-deficient glycoprotein syndrome type II
Hypercholesterolemia
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Transmembrane protein 199 congenital disorder of glycosylation (disorder)
TMEM199 congenital disorder of glycosylation
CDG (congenital disorder of glycosylation) syndrome type IIp
Carbohydrate deficient glycoprotein syndrome type IIp
TMEM199-CDG - transmembrane protein 199 congenital disorder of glycosylation
Transmembrane protein 199 congenital disorder of glycosylation
Congenital disorder of glycosylation type IIp
A rare congenital disorder of glycosylation characterized by chronic non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases.
Id1208738002
StatusPrimitive
OccurrenceCongenital
Has interpretationAbove reference range
InterpretsSerum total cholesterol measurement
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