||
congenitaal defect in glycosylering type Ir (aandoening)
congenitaal defect in glycosylering type Ir
CDG-syndroom type Ir
Congenital disorder of glycosylation type 1r
Dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation
Congenital disorder of glycosylation type Ir
DDOST-CDG - dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation
Carbohydrate deficient glycoprotein syndrome type Ir
A form of congenital disorders of N-linked glycosylation with characteristics of failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).
Id733083006
StatusPrimitive
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
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