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'asparagine-linked' congenitaal defect in glycosylering type 1L (aandoening)
'asparagine-linked' congenitaal defect in glycosylering type 1L
mannosyltransferase-7-9-deficientie
'asparagine-linked' CDG-syndroom type 1L
'asparagine-linked' congenitaal defect in glycosylering door mutatie in ALG9
ALG9 congenital disorder of glycosylation
Carbohydrate deficient glycoprotein syndrome type IL
Congenital disorder of glycosylation type 1L
Congenital disorder of glycosylation type IL
Asparagine-linked glycosylation 9 congenital disorder of glycosylation
ALG9-CDG - asparagine-linked glycosylation 9 congenital disorder of glycosylation
Mannosyltransferase 7-9 deficiency
A form of congenital disorders of N-linked glycosylation with characteristics of progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).
Id720978005
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