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congenitaal defect in glycosylering type Im (aandoening)
congenitaal defect in glycosylering type Im
CDG-syndroom type Im
Carbohydrate deficient glycoprotein syndrome type 1m
CDG1M - carbohydrate deficient glycoprotein syndrome type 1m
Carbohydrate deficient glycoprotein syndrome type Im
This syndrome has characteristics of muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.
Id718712005
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