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congenitaal defect in glycosylering type Ix (aandoening)
congenitaal defect in glycosylering type Ix
CDG-syndroom type Ix
Congenital disorder of glycosylation type 1x
Congenital disorder of glycosylation type Ix
Carbohydrate deficient glycoprotein syndrome type Ix
STT3B-CDG (congenital disorder of glycosylation)
A form of congenital disorders of N-linked glycosylation with characteristics of intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. Caused by mutations in the gene STT3B (3p24.1).
Id733112007
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