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Terminology chevron_right Concepts chevron_right 124256006

Production

Component

The component that hold information about this concept.

Fully Specified Name (FSN)

Deficiency of choline acetyltransferase (disorder)

Shortest Term

Deficiency of choline acetylase

Definition Status

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

Summary

Deficiency of choline acetyltransferase (disorder)

SCTID: 124256006, Primitive, Active

124256006|Deficiency of choline acetyltransferase (disorder)|

Expression

124256006 |Deficiency of choline acetyltransferase (disorder)|
 <<< 124237001 |Deficiency of transferase (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
203866014 - Deficiency of choline acetylase (en) View
203866014	en	Synonym (core metadata concept)	Deficiency of choline acetylase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
203867017 - Deficiency of choline acetyltransferase (en) View
203867017	en	Synonym (core metadata concept)	Deficiency of choline acetyltransferase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
727813013 - Deficiency of choline acetyltransferase (disorder) (en) View
727813013	en	Fully specified name (core metadata concept)	Deficiency of choline acetyltransferase (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (690220029) - 124256006 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (157231024) - 124256006 -> 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 (a45301f3-239d-5af9-8a58-9fe7b380e4d4) 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