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Terminology chevron_right Concepts chevron_right 360416003

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Component

360416003

The component that hold information about this concept.

Fully Specified Name (FSN)

Glutaryl-coa dehydrogenase deficiency (disorder)

Shortest Term

Glutaric acidemia type 1

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

Glutaryl-coa dehydrogenase deficiency (disorder)

SCTID: 360416003, Primitive, Active

360416003|Glutaryl-coa dehydrogenase deficiency (disorder)|

en Ga i - glutaric aciduria type 1
en Gcdh-gene related glutaryl-coenzyme a dehydrogenase deficiency
en Glutaric acidaemia type 1
en Glutaric acidemia type 1
en Glutaric aciduria type 1
en Glutaryl-coenzyme a dehydrogenase deficiency
en Glutaryl-coenzyme a dehydrogenase deficiency (disorder)
en Glutaryl-coa dehydrogenase deficiency

Expression

360416003 |Glutaryl-coa dehydrogenase deficiency (disorder)|
 <<< 237929000 |Disorder of lysine and hydroxylysine metabolism (disorder)| + 
128190004 |Inherited metabolic disorder of nervous system (disorder)| + 
28987007 |Glutaric aciduria (disorder)| + 
42930003 |Inborn error of amino acid metabolism (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5316187010 - GA I - glutaric aciduria type 1 (en) View
5316187010	en	Synonym (core metadata concept)	GA I - glutaric aciduria type 1	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5316188017 - GCDH-gene related glutaryl-coenzyme A dehydrogenase deficiency (en) View
5316188017	en	Synonym (core metadata concept)	GCDH-gene related glutaryl-coenzyme A dehydrogenase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5316184015 - Glutaric acidaemia type 1 (en) View
5316184015	en	Synonym (core metadata concept)	Glutaric acidaemia type 1	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
5316185019 - Glutaric acidemia type 1 (en) View
5316185019	en	Synonym (core metadata concept)	Glutaric acidemia type 1	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
5316186018 - Glutaric aciduria type 1 (en) View
5316186018	en	Synonym (core metadata concept)	Glutaric aciduria type 1	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
740214018 - Glutaryl-CoA dehydrogenase deficiency (disorder) (en) View
740214018	en	Fully specified name (core metadata concept)	Glutaryl-CoA dehydrogenase deficiency (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
2971285016 - Glutaryl-coenzyme A dehydrogenase deficiency (en) View
2971285016	en	Synonym (core metadata concept)	Glutaryl-coenzyme A dehydrogenase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
2971448010 - Glutaryl-coenzyme A dehydrogenase deficiency (disorder) (en) View
2971448010	en	Fully specified name (core metadata concept)	Glutaryl-coenzyme A dehydrogenase deficiency (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
476189017 - Glutaryl-CoA dehydrogenase deficiency (en) View
476189017	en	Synonym (core metadata concept)	Glutaryl-CoA dehydrogenase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15927564028) - 360416003 -> 128190004 (116680003) View
116680003 \|Is a (attribute)\|	128190004 \|Inherited metabolic disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15927565027) - 360416003 -> 28987007 (116680003) View
116680003 \|Is a (attribute)\|	28987007 \|Glutaric aciduria (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15927566026) - 360416003 -> 42930003 (116680003) View
116680003 \|Is a (attribute)\|	42930003 \|Inborn error of amino acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15927567024) - 360416003 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15927568025) - 360416003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15927569022) - 360416003 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (703457022) - 360416003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (703458028) - 360416003 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (168427027) - 360416003 -> 237929000 (116680003) View
116680003 \|Is a (attribute)\|	237929000 \|Disorder of lysine and hydroxylysine metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
128190004 View
128190004	Inherited metabolic disorder of nervous system (disorder)	Inherited metabolic disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
28987007 View
28987007	Glutaric aciduria (disorder)	Glutaric aciduria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
42930003 View
42930003	Inborn error of amino acid metabolism (disorder)	Hyperaminoaciduria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237929000 View
237929000	Disorder of lysine and hydroxylysine metabolism (disorder)	Lysine and hydroxylysine metabolism disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (fbef784b-9a51-5f2a-a8f3-3b0381115dd7) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E72.3	TRUE	ALWAYS E72.3	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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