773418007: Xylosyltransferase 1 congenital disorder of glycosylation (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\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
• \affection de la tête\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
• \affection de la tête\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\Genetic disease\maladie héréditaire\Developmental hereditary disorder\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\affection de la tête\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\affection de la tête\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\trouble métabolique\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\Congenital disease\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\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\trouble du développement\Developmental hereditary disorder\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
• \Disease\trouble du développement\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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