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Terminology chevron_right Concepts chevron_right 124280005

Production

Component

The component that hold information about this concept.

Fully Specified Name (FSN)

Deficiency of amidophosphoribosyltransferase (disorder)

Shortest Term

Deficiency of amidophosphoribosyltransferase

Definition Status

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

Summary

Deficiency of amidophosphoribosyltransferase (disorder)

SCTID: 124280005, Primitive, Active

124280005|Deficiency of amidophosphoribosyltransferase (disorder)|

Expression

124280005 |Deficiency of amidophosphoribosyltransferase (disorder)|
 <<< 124237001 |Deficiency of transferase (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
203942016 - Deficiency of amidophosphoribosyltransferase (en) View
203942016	en	Synonym (core metadata concept)	Deficiency of amidophosphoribosyltransferase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
727860017 - Deficiency of amidophosphoribosyltransferase (disorder) (en) View
727860017	en	Fully specified name (core metadata concept)	Deficiency of amidophosphoribosyltransferase (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
203941011 - Deficiency of glutamine phosphoribosylpyrophosphate amidotransferase (en) View
203941011	en	Synonym (core metadata concept)	Deficiency of glutamine phosphoribosylpyrophosphate amidotransferase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
203940012 - Deficiency of phosphoribosyldiphosphate 5-amidotransferase (en) View
203940012	en	Synonym (core metadata concept)	Deficiency of phosphoribosyldiphosphate 5-amidotransferase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (690260028) - 124280005 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (157281026) - 124280005 -> 124237001 (116680003) View
116680003 \|Is a (attribute)\|	124237001 \|Deficiency of transferase (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
124237001 View
124237001	Deficiency of transferase (disorder)	Deficiency of transferase	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 (b7bd059e-df51-5594-8342-7c083353bb95) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E88.8	TRUE	ALWAYS E88.8 \| POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE	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