773418007: Xylosyltransferase 1 congenital disorder of glycosylation (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Xylosyltransferase 1 congenital disorder of glycosylation
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Xylosyltransferase 1 congenital disorder of glycosylation
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Xylosyltransferase 1 congenital disorder of glycosylation
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Xylosyltransferase 1 congenital disorder of glycosylation
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Xylosyltransferase 1 congenital disorder of glycosylation
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Xylosyltransferase 1 congenital disorder of glycosylation
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Developmental disorder\Developmental hereditary disorder\Xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Xylosyltransferase 1 congenital disorder of glycosylation

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723475010	Xylosyltransferase 1 congenital disorder of glycosylation	en	Synonym	Active	Case insensitive	SNOMED CT core
3723476011	XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3723477019	Xylosyltransferase 1 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3723479016	XYLT1-CDG	en	Synonym	Active	Case sensitive	SNOMED CT core
3723478012	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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