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congenitaal defect in glycosylering type Io (aandoening)
congenitaal defect in glycosylering type Io
CDG-syndroom type Io
Carbohydrate deficient glycoprotein syndrome type 1o
DPM3-CDG - dolichyl-phosphate mannosyltransferase 3 congenital disorder of glycosylation
Congenital disorder of glycosylation type 1o
An extremely rare form of congenital disorder of glycosylation with clinical characteristics in the single reported case of muscle weakness, waddling gait and dilated cardiomyopathy. Caused by homozygous mutation in the DPM3 gene on chromosome 1q22.
Id725044000
StatusPrimitive
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE77.8
RuleTRUE
AdviceALWAYS E77.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified