dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 124257002

Production

add

Component

124257002

The component that hold information about this concept.

Fully Specified Name (FSN)

Deficiency of carnitine acetyltransferase (disorder)

Shortest Term

Deficiency of carnitine acetyltransferase

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

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

Summary

Deficiency of carnitine acetyltransferase (disorder)

SCTID: 124257002, Primitive, Active

124257002|Deficiency of carnitine acetyltransferase (disorder)|

en Deficiency of carnitine acetyltransferase
en Deficiency of carnitine acetyltransferase (disorder)

Expression

124257002 |Deficiency of carnitine acetyltransferase (disorder)|
 <<< 124237001 |Deficiency of transferase (disorder)| + 
39929009 |Disorder of fatty acid metabolism (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
203869019 - Deficiency of carnitine acetyltransferase (en) View
203869019	en	Synonym (core metadata concept)	Deficiency of carnitine acetyltransferase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
727816017 - Deficiency of carnitine acetyltransferase (disorder) (en) View
727816017	en	Fully specified name (core metadata concept)	Deficiency of carnitine acetyltransferase (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3649535025) - 124257002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3642685025) - 124257002 -> 39929009 (116680003) View
116680003 \|Is a (attribute)\|	39929009 \|Disorder of fatty acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (690221025) - 124257002 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (157234027) - 124257002 -> 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
39929009 View
39929009	Disorder of fatty acid metabolism (disorder)	Disorder of fat oxidation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
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 (35022df8-365f-5cde-b1c0-c6ff16799e91) 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)\|

Terminology chevron_right Concepts chevron_right 124257002

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches