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Terminology chevron_right Concepts chevron_right 124536006

Production

Component

The component that hold information about this concept.

Fully Specified Name (FSN)

Deficiency of fumarylacetoacetase (disorder)

Shortest Term

Deficiency of beta-diketonase

Definition Status

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

Summary

Deficiency of fumarylacetoacetase (disorder)

SCTID: 124536006, Primitive, Active

124536006|Deficiency of fumarylacetoacetase (disorder)|

Expression

124536006 |Deficiency of fumarylacetoacetase (disorder)|
 <<< 129456006 |Specific enzyme deficiency (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
204637016 - Deficiency of beta-diketonase (en) View
204637016	en	Synonym (core metadata concept)	Deficiency of beta-diketonase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
204638014 - Deficiency of fumarylacetoacetase (en) View
204638014	en	Synonym (core metadata concept)	Deficiency of fumarylacetoacetase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
728241017 - Deficiency of fumarylacetoacetase (disorder) (en) View
728241017	en	Fully specified name (core metadata concept)	Deficiency of fumarylacetoacetase (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (690546029) - 124536006 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (157654022) - 124536006 -> 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
27373000 View
27373000	Fumarylacetoacetase deficiency, acute type (disorder)	Tyrosinemia, type i	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
52452006 View
52452006	Fumarylacetoacetase deficiency, chronic type (disorder)	Chronic tyrosinosis	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 (8dd2ace9-9062-5068-b6b3-c3e7da2ab71c) 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