autosomaal recessieve hereditaire aandoening	congenitaal defect in glycosylering type I
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congenitaal defect in glycosylering type Ir (aandoening)
	congenitaal defect in glycosylering type Ir
	CDG-syndroom type Ir
	Congenital disorder of glycosylation type 1r
	Congenital disorder of glycosylation type Ir DDOST-CDG - dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation Carbohydrate deficient glycoprotein syndrome type Ir Dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation
	A form of congenital disorders of N-linked glycosylation with characteristics of failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).

Id	733083006
Status	Primitive

Occurrence

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E77.8
Term	Overige gespecificeerde stoornissen van glycoproteïnemetabolisme

SNOMED CT to Orphanet simple map

300536

SNOMED CT to ICD-10 extended map

Target	E77.8
Rule	TRUE
Advice	ALWAYS E77.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified