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Terminology chevron_right Concepts chevron_right 124592006

Production

Component

The component that hold information about this concept.

Fully Specified Name (FSN)

Deficiency of lyase (disorder)

Shortest Term

Deficiency of lyase

Definition Status

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

Summary

Deficiency of lyase (disorder)

SCTID: 124592006, Primitive, Active

124592006|Deficiency of lyase (disorder)|

Expression

124592006 |Deficiency of lyase (disorder)|
 <<< 129456006 |Specific enzyme deficiency (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
204697019 - Deficiency of lyase (en) View
204697019	en	Synonym (core metadata concept)	Deficiency of lyase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
728306018 - Deficiency of lyase (disorder) (en) View
728306018	en	Fully specified name (core metadata concept)	Deficiency of lyase (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (690598027) - 124592006 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (157719023) - 124592006 -> 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
733448000 View
733448000	Deficiency of guanylate cyclase 2c (disorder)	Guanylate cyclase 2c deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733630004 View
733630004	Deficiency of alpha-ketoglutarate dehydrogenase (disorder)	Oxoglutaricaciduria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
124600004 View
124600004	Deficiency of aromatic-l-amino-acid decarboxylase (disorder)	Deficiency of dopa decarboxylase	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (6202c017-ff6f-54e1-839b-5ed5ebec377d) 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