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

congenitaal defect in glycosylering type Ix (aandoening)
	congenitaal defect in glycosylering type Ix
	CDG-syndroom type Ix
	Congenital disorder of glycosylation type 1x
	Carbohydrate deficient glycoprotein syndrome type Ix STT3B-CDG (congenital disorder of glycosylation) Congenital disorder of glycosylation type Ix
	A form of congenital disorders of N-linked glycosylation with characteristics of intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. Caused by mutations in the gene STT3B (3p24.1).

Id	733112007
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

370924

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