Autosomal recessive hereditary disorder
Carbohydrate-deficient glycoprotein syndrome type I
||
Congenital disorder of glycosylation type Ia (disorder)
Congenital disorder of glycosylation type Ia
congenitaal defect in glycosylering type 1A
congenital disorder of glycosylation type 1a
fosfomannomutase-2-deficiëntie
Id459063003
StatusPrimitive
OccurrenceCongenital
Due toDeficiency of phosphomannomutase 2
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE77.8
RuleTRUE
AdviceALWAYS E77.8
CorrelationSNOMED CT source code to target map code correlation not specified