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Terminology chevron_right Concepts chevron_right 124281009

Production

Component

The component that hold information about this concept.

Fully Specified Name (FSN)

Deficiency of dimethylallyltranstransferase (disorder)

Shortest Term

Deficiency of prenyltransferase

Definition Status

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

Summary

Deficiency of dimethylallyltranstransferase (disorder)

SCTID: 124281009, Primitive, Active

124281009|Deficiency of dimethylallyltranstransferase (disorder)|

Expression

124281009 |Deficiency of dimethylallyltranstransferase (disorder)|
 <<< 129456006 |Specific enzyme deficiency (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
203947010 - Deficiency of dimethylallyltransferase (en) View
203947010	en	Synonym (core metadata concept)	Deficiency of dimethylallyltransferase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
203948017 - Deficiency of dimethylallyltranstransferase (en) View
203948017	en	Synonym (core metadata concept)	Deficiency of dimethylallyltranstransferase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
727862013 - Deficiency of dimethylallyltranstransferase (disorder) (en) View
727862013	en	Fully specified name (core metadata concept)	Deficiency of dimethylallyltranstransferase (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
203946018 - Deficiency of geranyl-diphosphate synthase (en) View
203946018	en	Synonym (core metadata concept)	Deficiency of geranyl-diphosphate synthase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
203945019 - Deficiency of prenyltransferase (en) View
203945019	en	Synonym (core metadata concept)	Deficiency of prenyltransferase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (690261029) - 124281009 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (157283028) - 124281009 -> 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 (1eac14e0-1774-5879-b1ef-7880cc97503c) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D84.1	TRUE	ALWAYS D84.1	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