Autosomal recessive hereditary disorder	Carbohydrate-deficient glycoprotein syndrome type I
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Asparagine-linked glycosylation 1 congenital disorder of glycosylation (disorder)
	ALG1 congenital disorder of glycosylation
	Asparagine-linked glycosylation 1 congenital disorder of glycosylation Mannosyltransferase 1 deficiency Congenital disorder of glycosylation type 1K Carbohydrate deficient glycoprotein syndrome type Ik ALG1-CDG - asparagine-linked glycosylation 1 congenital disorder of glycosylation
	A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).
	'asparagine-linked' congenitaal defect in glycosylering type I
	'asparagine-linked' CDG-syndroom type I

Id	720941007
Status	Primitive

Occurrence

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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