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Terminology chevron_right Concepts chevron_right 238011005

Production

Component

The component that hold information about this concept.

Fully Specified Name (FSN)

Inosine triphosphate pyrophosphohydrolase deficiency (disorder)

Shortest Term

Itpase - inosine triphosphatase deficiency

Definition Status

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

Summary

Inosine triphosphate pyrophosphohydrolase deficiency (disorder)

SCTID: 238011005, Primitive, Active

238011005|Inosine triphosphate pyrophosphohydrolase deficiency (disorder)|

Expression

238011005 |Inosine triphosphate pyrophosphohydrolase deficiency (disorder)|
 <<< 32612005 |Disorder of purine metabolism (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
356742011 - Inosine triphosphate pyrophosphohydrolase deficiency (en) View
356742011	en	Synonym (core metadata concept)	Inosine triphosphate pyrophosphohydrolase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
626829012 - Inosine triphosphate pyrophosphohydrolase deficiency (disorder) (en) View
626829012	en	Fully specified name (core metadata concept)	Inosine triphosphate pyrophosphohydrolase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
356743018 - ITPase - Inosine triphosphatase deficiency (en) View
356743018	en	Synonym (core metadata concept)	ITPase - Inosine triphosphatase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (527035026) - 238011005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (527034027) - 238011005 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (53649026) - 238011005 -> 32612005 (116680003) View
116680003 \|Is a (attribute)\|	32612005 \|Disorder of purine metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
32612005 View
32612005	Disorder of purine metabolism (disorder)	Disorder of purine metabolism	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 (8436a90b-5630-5770-9b29-b46088bb1547) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E79.8	TRUE	ALWAYS E79.8	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)\|

Descriptions