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Terminology chevron_right Concepts chevron_right 238049009

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Component

238049009

The component that hold information about this concept.

Fully Specified Name (FSN)

Carbohydrate-deficient glycoprotein syndrome (disorder)

Shortest Term

Congenital disorder of glycosylation

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Carbohydrate-deficient glycoprotein syndrome (disorder)

SCTID: 238049009, Primitive, Active

238049009|Carbohydrate-deficient glycoprotein syndrome (disorder)|

en Congenital disorder of glycosylation
en Carbohydrate deficiency glycoprotein syndrome
en Carbohydrate deficient glycoprotein syndrome
en Carbohydrate-deficient glycoprotein syndrome
en Carbohydrate-deficient glycoprotein syndrome (disorder)
en Cdg - carbohydrate-deficient glycoprotein syndrome

Expression

238049009 |Carbohydrate-deficient glycoprotein syndrome (disorder)|
 <<< 238045003 |Disorder of glycoprotein metabolism (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3760400018 - Congenital disorder of glycosylation (en) View
3760400018	en	Synonym (core metadata concept)	Congenital disorder of glycosylation	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3036810012 - Carbohydrate deficiency glycoprotein syndrome (en) View
3036810012	en	Synonym (core metadata concept)	Carbohydrate deficiency glycoprotein syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3037759010 - Carbohydrate deficient glycoprotein syndrome (en) View
3037759010	en	Synonym (core metadata concept)	Carbohydrate deficient glycoprotein syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
356827017 - Carbohydrate-deficient glycoprotein syndrome (en) View
356827017	en	Synonym (core metadata concept)	Carbohydrate-deficient glycoprotein syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
626877012 - Carbohydrate-deficient glycoprotein syndrome (disorder) (en) View
626877012	en	Fully specified name (core metadata concept)	Carbohydrate-deficient glycoprotein syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
356828010 - CDG - Carbohydrate-deficient glycoprotein syndrome (en) View
356828010	en	Synonym (core metadata concept)	CDG - Carbohydrate-deficient glycoprotein syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (527127027) - 238049009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (527128021) - 238049009 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (53704024) - 238049009 -> 238045003 (116680003) View
116680003 \|Is a (attribute)\|	238045003 \|Disorder of glycoprotein metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
238045003 View
238045003	Disorder of glycoprotein metabolism (disorder)	Glycoprotein metabolism disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1234819007 View
1234819007	Limb girdle muscular dystrophy due to protein o-mannose kinase deficiency (disorder)	Limb girdle muscular dystrophy due to pomk deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187623009 View
1187623009	Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder)	Pgm3-related congenital disorder of glycosylation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187250005 View
1187250005	Seizures, scoliosis, macrocephaly syndrome (disorder)	Seizures, scoliosis, macrocephaly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172627007 View
1172627007	Early-onset epilepsy, intellectual disability, brain anomalies syndrome (disorder)	Pigg-cdg - congenital disorder of glycosylation due to pigg deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172703004 View
1172703004	Protein o-glucosyltransferase 1-related limb girdle muscular dystrophy r21 (disorder)	Limb girdle muscular dystrophy type 2z	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
785303004 View
785303004	Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)	Multiple congenital anomalies, hypotonia, seizures syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770755007 View
770755007	Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder)	Congenital disorder of glycosylation due to pigt deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773418007 View
773418007	Xylosyltransferase 1 congenital disorder of glycosylation (disorder)	Xylt1-cdg	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773643006 View
773643006	Multiple congenital anomalies, hypotonia, seizures syndrome type 2 (disorder)	Multiple congenital anomalies, hypotonia, seizures syndrome type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723624008 View
723624008	Solute carrier family 35 member a1 congenital disorder of glycosylation (disorder)	Cmp-sialic acid transporter deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
61367005 View
61367005	Jarcho-levin syndrome (disorder)	Jarcho-levin syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
277893002 View
277893002	Carbohydrate-deficient glycoprotein syndrome type i (disorder)	Carbohydrate-deficient glycoprotein syndrome type i	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
277894008 View
277894008	Carbohydrate-deficient glycoprotein syndrome type ii (disorder)	N-acetylglucosaminyl transferase ii deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
277895009 View
277895009	Carbohydrate-deficient glycoprotein syndrome type iii (disorder)	Carbohydrate-deficient glycoprotein syndrome type iii	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (94849a8c-02ad-59f3-9d00-9977025db564) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E77.8	TRUE	ALWAYS E77.8	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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