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Terminology chevron_right Concepts chevron_right 429735007

Production

Component

The component that hold information about this concept.

Fully Specified Name (FSN)

Citrin deficiency (disorder)

Shortest Term

Citrullinemia ll

Definition Status

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

Summary

Citrin deficiency (disorder)

SCTID: 429735007, Primitive, Active

429735007|Citrin deficiency (disorder)|

Expression

429735007 |Citrin deficiency (disorder)|
 <<< 398680004 |Citrullinemia (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5285684019 - SLC25A13 related citrin deficiency (en) View
5285684019	en	Synonym (core metadata concept)	SLC25A13 related citrin deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5285685018 - Solute carrier family 25 member 13 related citrin deficiency (en) View
5285685018	en	Synonym (core metadata concept)	Solute carrier family 25 member 13 related citrin deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2693127019 - Citrin deficiency (en) View
2693127019	en	Synonym (core metadata concept)	Citrin deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2689500017 - Citrin deficiency (disorder) (en) View
2689500017	en	Fully specified name (core metadata concept)	Citrin deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2696096011 - Citrullinaemia ll (en) View
2696096011	en	Synonym (core metadata concept)	Citrullinaemia ll	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
2695692018 - Citrullinemia ll (en) View
2695692018	en	Synonym (core metadata concept)	Citrullinemia ll	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6570968022) - 429735007 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3226461026) - 429735007 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3226462022) - 429735007 -> 36444000 (116680003) View
116680003 \|Is a (attribute)\|	36444000 \|Disorder of the urea cycle metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6570969025) - 429735007 -> 398680004 (116680003) View
116680003 \|Is a (attribute)\|	398680004 \|Citrullinemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
398680004 View
398680004	Citrullinemia (disorder)	Citrullinemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
716863007 View
716863007	Citrullinemia type ii (disorder)	Citrullinemia type ii	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 (db3d28cd-1b02-5e6e-a8e2-1605fab60e48) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E72.2	TRUE	ALWAYS E72.2	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