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Terminology chevron_right Concepts chevron_right 23501004

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Component

23501004

The component that hold information about this concept.

Fully Specified Name (FSN)

Arginase deficiency (disorder)

Shortest Term

Argininemia

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

Arginase deficiency (disorder)

SCTID: 23501004, Primitive, Active

23501004|Arginase deficiency (disorder)|

en Arg1-gene related arginase deficiency
en Arginase 1-gene related arginase deficiency
en Arginase deficiency
en Arginase deficiency (disorder)
en Argininaemia
en Argininemia
en Deficiency of arginase
en Hyperargininaemia
en Hyperargininemia
en Argi deficiency

Expression

23501004 |Arginase deficiency (disorder)|
 <<< 128190004 |Inherited metabolic disorder of nervous system (disorder)| + 
36444000 |Disorder of the urea cycle metabolism (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
129456006 |Specific enzyme deficiency (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
5287011017 - ARG1-gene related arginase deficiency (en) View
5287011017	en	Synonym (core metadata concept)	ARG1-gene related arginase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5287012012 - Arginase 1-gene related arginase deficiency (en) View
5287012012	en	Synonym (core metadata concept)	Arginase 1-gene related arginase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
39458015 - Arginase deficiency (en) View
39458015	en	Synonym (core metadata concept)	Arginase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
753030010 - Arginase deficiency (disorder) (en) View
753030010	en	Fully specified name (core metadata concept)	Arginase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
481635014 - Argininaemia (en) View
481635014	en	Synonym (core metadata concept)	Argininaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
39459011 - Argininemia (en) View
39459011	en	Synonym (core metadata concept)	Argininemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2475895017 - Deficiency of arginase (en) View
2475895017	en	Synonym (core metadata concept)	Deficiency of arginase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
481636010 - Hyperargininaemia (en) View
481636010	en	Synonym (core metadata concept)	Hyperargininaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
39460018 - Hyperargininemia (en) View
39460018	en	Synonym (core metadata concept)	Hyperargininemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
39461019 - ARGI deficiency (en) View
39461019	en	Synonym (core metadata concept)	ARGI deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (730877020) - 23501004 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (730878026) - 23501004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (186328020) - 23501004 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2544948022) - 23501004 -> 129456006 (116680003) View
116680003 \|Is a (attribute)\|	129456006 \|Specific enzyme deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (186326024) - 23501004 -> 128190004 (116680003) View
116680003 \|Is a (attribute)\|	128190004 \|Inherited metabolic disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (186327026) - 23501004 -> 36444000 (116680003) View
116680003 \|Is a (attribute)\|	36444000 \|Disorder of the urea cycle metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (186329028) - 23501004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (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
36444000 View
36444000	Disorder of the urea cycle metabolism (disorder)	Disorder of urea cycle	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
129456006 View
129456006	Specific enzyme deficiency (disorder)	Specific enzyme deficiency	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 (7fe617f8-74d8-5f15-952e-f5ecb3ac9b07) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E72.2	TRUE	ALWAYS E72.2	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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