773418007: Xylosyltransferase 1 congenital disorder of glycosylation (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behavior and/or psychosocial function finding\Behavior 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\Finding of intellectual ability\Intellectual disability\Xylosyltransferase 1 congenital disorder of glycosylation
• \Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\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\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Congenital disease\Congenital malformation\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 malformation\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\Disorder of glycoprotein metabolism\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 malformation\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 malformation\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

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

Expanded Value Set

This concept is not in any reference sets

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