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Terminology chevron_right Concepts chevron_right 238045003

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Component

238045003

The component that hold information about this concept.

Fully Specified Name (FSN)

Disorder of glycoprotein metabolism (disorder)

Shortest Term

Glycoprotein metabolism disorder

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

Disorder of glycoprotein metabolism (disorder)

SCTID: 238045003, Primitive, Active

238045003|Disorder of glycoprotein metabolism (disorder)|

en Disorder of glycoprotein metabolism
en Disorder of glycoprotein metabolism (disorder)
en Glycoprotein metabolism disorder

Expression

238045003 |Disorder of glycoprotein metabolism (disorder)|
 <<< 86095007 |Inborn error of metabolism (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
356821016 - Disorder of glycoprotein metabolism (en) View
356821016	en	Synonym (core metadata concept)	Disorder of glycoprotein metabolism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
626872018 - Disorder of glycoprotein metabolism (disorder) (en) View
626872018	en	Fully specified name (core metadata concept)	Disorder of glycoprotein metabolism (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3037447012 - Glycoprotein metabolism disorder (en) View
3037447012	en	Synonym (core metadata concept)	Glycoprotein metabolism disorder	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (527117022) - 238045003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (527116029) - 238045003 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (53698024) - 238045003 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
86095007 View
86095007	Inborn error of metabolism (disorder)	Inborn error of metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1155842003 View
1155842003	Oligosaccharidosis (disorder)	Oligosaccharidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
777998000 View
777998000	Temtamy preaxial brachydactyly syndrome (disorder)	Temtamy preaxial brachydactyly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763778003 View
763778003	Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder)	Larsen-like syndrome b3gat3 type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
768846004 View
768846004	N-glycanase 1 congenital disorder of deglycosylation (disorder)	Deficiency of n-glycanase 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724344004 View
724344004	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733623005 View
733623005	Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Autism spectrum disorder, epilepsy, arthrogryposis syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
7810004 View
7810004	Glycoprotein storage disorder (disorder)	Glycoprotein storage disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
30188007 View
30188007	Alpha-1-antitrypsin deficiency (disorder)	Thiếu alpha-1-antitrypsin	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
70199000 View
70199000	I-cell disease (disorder)	I-cell disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238049009 View
238049009	Carbohydrate-deficient glycoprotein syndrome (disorder)	Congenital disorder of glycosylation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
312857009 View
312857009	Alpha-2-antitrypsin deficiency (disorder)	Alpha-2-antitrypsin deficiency	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 (6d62366f-360a-5592-a40e-30a5dc6c1c3c) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E77.9	TRUE	ALWAYS E77.9	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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