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congenitaal defect in glycosylering type If (aandoening)
congenitaal defect in glycosylering type If
CDG-syndroom type If
Congenital disorder of glycosylation type 1f
MPDU1-CDG - mannose-P-dolichol utilization defect 1 - congenital disorder of glycosylation
Mannose-P-dolichol utilization defect 1
Carbohydrate deficient glycoprotein syndrome type If
This disease has characteristics of psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies. It has been described in four children. The syndrome is caused by mutations in the MPDU1 gene on the p13.1-p12 region of chromosome 17.
Id724096007
StatusPrimitive
Occurrencecongenitaal
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
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