||
'asparagine-linked' congenitaal defect in glycosylering type I (aandoening)
'asparagine-linked' congenitaal defect in glycosylering type I
'asparagine-linked' CDG-syndroom type I
ALG1 congenital disorder of glycosylation
Congenital disorder of glycosylation type 1K
Carbohydrate deficient glycoprotein syndrome type Ik
ALG1-CDG - asparagine-linked glycosylation 1 congenital disorder of glycosylation
Asparagine-linked glycosylation 1 congenital disorder of glycosylation
Mannosyltransferase 1 deficiency
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).
Id720941007
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