autosomaal recessieve hereditaire aandoening	congenitaal defect in glycosylering type I
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'asparagine-linked' congenitaal defect in glycosylering type 1H (aandoening)
	'asparagine-linked' congenitaal defect in glycosylering type 1H
	glucosyltransferase-2-deficiëntie '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.

Id	720977000
Status	Primitive

Occurrence

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

79325

SNOMED CT to ICD-10 extended map

Target	E77.8
Rule	TRUE
Advice	ALWAYS E77.8
Correlation	SNOMED CT source code to target map code correlation not specified