Disorder of glycoprotein metabolism

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Carbohydrate-deficient glycoprotein syndrome (disorder)
	Carbohydrate-deficient glycoprotein syndrome
	Congenital disorder of glycosylation Carbohydrate deficient glycoprotein syndrome Carbohydrate deficiency glycoprotein syndrome CDG - Carbohydrate-deficient glycoprotein syndrome
	congenitaal defect in glycosylering
	CDG

Id	238049009
Status	Primitive

Occurrence

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E77.8
Rule	TRUE
Advice	ALWAYS E77.8
Correlation	SNOMED CT source code to target map code correlation not specified

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Carbohydrate-deficient glycoprotein syndrome type I28

Carbohydrate-deficient glycoprotein syndrome type II18

Carbohydrate-deficient glycoprotein syndrome type III

Early-onset epilepsy, intellectual disability, brain anomalies syndrome

Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome

Jarcho-Levin syndrome

Limb girdle muscular dystrophy due to POMK deficiency

Multiple congenital anomalies, hypotonia, seizures syndrome

Multiple congenital anomalies, hypotonia, seizures syndrome type 2

Phosphoglucomutase 3-related congenital disorder of glycosylation

POGLUT1-related limb girdle muscular dystrophy R21

Seizures, scoliosis, macrocephaly syndrome

SLC35A1 congenital disorder of glycosylation

XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation