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congenitaal defect in glycosylering gerelateerd aan carbamoylfosfaatsynthetase 2, aspartaattranscarbamoylase en dihydro-orotase (aandoening)
congenitaal defect in glycosylering gerelateerd aan carbamoylfosfaatsynthetase 2, aspartaattranscarbamoylase en dihydro-orotase
congenitaal defect in glycosylering type Iz
congenitaal defect in glycosylering type 1z
CDG-Iz
congenitaal defect in glycosylering gerelateerd aan carbamoylfosfaatsynthetase 2, aspartaattranscarbamylase en dihydro-orotase
CAD-CDG
CDG-syndroom type Iz
CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation
Congenital disorder of glycosylation type 1z
Carbohydrate deficient glycoprotein syndrome type Iz
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation
A rare congenital disorder of glycosylation caused by mutations in the CAD gene with characteristics of epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.
Id1237417007
StatusPrimitive
Occurrencecongenitaal
SNOMED CT to ICD-10 extended map
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