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'asparagine-linked' congenitaal defect in glycosylering type 1H (aandoening)
'asparagine-linked' congenitaal defect in glycosylering type 1H
glucosyltransferase-2-deficiƫntie
'asparagine-linked' CDG-syndroom type 1H
ALG8 congenital disorder of glycosylation
Carbohydrate deficient glycoprotein syndrome type Ih
Congenital disorder of glycosylation type 1h
Congenital disorder of glycosylation type Ih
Glucosyltransferase 2 deficiency
Asparagine-linked glycosylation 8 congenital disorder of glycosylation
ALG8-CDG - asparagine-linked glycosylation 8 congenital disorder of glycosylation
A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.
Id720977000
StatusPrimitive
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE77.8
RuleTRUE
AdviceALWAYS E77.8
CorrelationSNOMED CT source code to target map code correlation not specified