Autosomal recessive hereditary disorder
Carbohydrate-deficient glycoprotein syndrome type I
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Carbohydrate deficient glycoprotein syndrome type 1o (disorder)
Carbohydrate deficient glycoprotein syndrome type 1o
Congenital disorder of glycosylation type 1o
DPM3-CDG - dolichyl-phosphate mannosyltransferase 3 congenital disorder of glycosylation
DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.
Id725044000
StatusPrimitive
OccurrenceCongenital
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE77.8
TermOverige gespecificeerde stoornissen van glycoproteïnemetabolisme
SNOMED CT to ICD-10 extended map
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