Autosomal recessive hereditary disorder	Carbohydrate-deficient glycoprotein syndrome	Developmental hereditary disorder	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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Xylosyltransferase 1 congenital disorder of glycosylation (disorder)
	XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
	XYLT1-CDG Xylosyltransferase 1 congenital disorder of glycosylation
	A rare congenital disorder of glycosylation with characteristics of moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophrys and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, and short femoral necks with coxa valga, clinodactyly and broad thumbs.
	xylosyltransferase-1 congenitaal defect in glycosylering

Id	773418007
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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