||
'asparagine-linked' congenitaal defect in glycosylering type 1D (aandoening)
'asparagine-linked' congenitaal defect in glycosylering type 1D
'asparagine-linked' type 1D CDG-syndroom
mannosyltransferase-6-deficientie
'asparagine-linked' congenitaal defect in glycosylering door mutatie in gen 3q27.3
'asparagine-linked' congenitaal defect in glycosylering door mutatie in ALG3
ALG3 congenital disorder of glycosylation
Congenital disorder of glycosylation type Id
Congenital disorder of glycosylation type 1d
Asparagine-linked glycosylation 3 congenital disorder of glycosylation
Carbohydrate deficient glycoprotein syndrome type Id
ALG3-CDG - asparagine-linked glycosylation 3 congenital disorder of glycosylation
Mannosyltransferase 6 deficiency
A form of congenital disorders of N-linked glycosylation with characteristics of severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita, vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). Caused by loss-of-function mutations of the gene ALG3 (3q27.3).
Id720976009
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