autosomaal recessieve hereditaire aandoening	congenitaal defect in glycosylering type I
\|	\|

congenitaal defect in glycosylering type Iw (aandoening)
	congenitaal defect in glycosylering type Iw
	CDG-syndroom type Iw
	Congenital disorder of glycosylation type 1w
	Congenital disorder of glycosylation type Iw STT3A-CDG (congenital disorder of glycosylation)
	STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).

Id	733111000
Status	Primitive

Occurrence

SNOMED CT to Orphanet simple map

DHD Diagnosis thesaurus reference set

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

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E77.8
Term	Overige gespecificeerde stoornissen van glycoproteïnemetabolisme