||
congenitaal defect in glycosylering type 1p (aandoening)
congenitaal defect in glycosylering type 1p
CDG-syndroom type 1p
Congenital disorder of glycosylation type 1p
ALG11-CDG - asparagine-linked glycosylation 11 congenital disorder of glycosylation
Congenital disorder of glycosylation type Ip
Asparagine-linked glycosylation 11 congenital disorder of glycosylation
Carbohydrate deficient glycoprotein syndrome type Ip
A form of congenital disorders of N-linked glycosylation with characteristics of facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).
Id733085004
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