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congenitaal defect in glycosylering type In (aandoening)
congenitaal defect in glycosylering type In
CDG-syndroom type In
Congenital disorder of glycosylation type 1n
Man5GlcNAc2-dolichylpyrophosphate flippase deficiency
RFT1-congenital disorder of glycosylation
Carbohydrate deficient glycoprotein syndrome type In
RFT1-CDG (congenital disorder of glycosylation)
Congenital disorder of glycosylation type In
A form of congenital disorders of N-linked glycosylation with characteristics of poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).
Id733084000
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