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congenitaal defect in glycosylering type Ij (aandoening)
congenitaal defect in glycosylering type Ij
CDG-syndroom type Ij
Congenital disorder of glycosylation type 1j
Carbohydrate deficient glycoprotein syndrome type Ij
Congenital disorder of glycosylation type Ij
Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
DPAGT1-CDG - dolichyl-phosphate n-acetylglucosamine phosphotransferase congenital disorder of glycosylation
A form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).
Id725079003
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