773418007: Xylosyltransferase 1 congenital disorder of glycosylation (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\XYLT1-CDG - 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\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Developmental disorder\Developmental hereditary disorder\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723476011	XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723477019	Xylosyltransferase 1 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723479016	XYLT1-CDG	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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