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Terminology chevron_right Concepts chevron_right 124707009

Production

Component

The component that hold information about this concept.

Fully Specified Name (FSN)

Deficiency of phosphopantothenate-cysteine ligase (disorder)

Shortest Term

Deficiency of phosphopantothenate-cysteine ligase

Definition Status

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

Summary

Deficiency of phosphopantothenate-cysteine ligase (disorder)

SCTID: 124707009, Primitive, Active

124707009|Deficiency of phosphopantothenate-cysteine ligase (disorder)|

Expression

124707009 |Deficiency of phosphopantothenate-cysteine ligase (disorder)|
 <<< 129456006 |Specific enzyme deficiency (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
205016016 - Deficiency of phosphopantothenate-cysteine ligase (en) View
205016016	en	Synonym (core metadata concept)	Deficiency of phosphopantothenate-cysteine ligase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
728438012 - Deficiency of phosphopantothenate-cysteine ligase (disorder) (en) View
728438012	en	Fully specified name (core metadata concept)	Deficiency of phosphopantothenate-cysteine ligase (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
205015017 - Deficiency of phosphopantothenoylcysteine synthetase (en) View
205015017	en	Synonym (core metadata concept)	Deficiency of phosphopantothenoylcysteine synthetase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (690730023) - 124707009 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (157860020) - 124707009 -> 129456006 (116680003) View
116680003 \|Is a (attribute)\|	129456006 \|Specific enzyme deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
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 (7d8bae1f-be46-56fa-9c13-4810660674f0) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E88.0	TRUE	ALWAYS E88.0 \| 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