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

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
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
3435491001000113	XYLT1-CDG	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3435491001000113	XYLT1-CDG	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

Back to Start