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Terminology chevron_right Concepts chevron_right 410050000

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Component

410050000

The component that hold information about this concept.

Fully Specified Name (FSN)

Clinical manifestation of carnosinase deficiency (disorder)

Shortest Term

Clinical manifestation of carnosinase deficiency

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

Clinical manifestation of carnosinase deficiency (disorder)

SCTID: 410050000, Primitive, Active

410050000|Clinical manifestation of carnosinase deficiency (disorder)|

en Clinical manifestation of aminoacyl-histidine dipeptidase deficiency
en Clinical manifestation of carnosinase deficiency
en Clinical manifestation of carnosinase deficiency (disorder)

Expression

410050000 |Clinical manifestation of carnosinase deficiency (disorder)|
 <<< 410053003 |Clinical manifestation of enzyme deficiency (disorder)| : 
        { 42752001 |Due to (attribute)| = 360953004 |Deficiency of aminoacyl-histidine dipeptidase (disorder)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2477712013 - Clinical manifestation of aminoacyl-histidine dipeptidase deficiency (en) View
2477712013	en	Synonym (core metadata concept)	Clinical manifestation of aminoacyl-histidine dipeptidase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2471777017 - Clinical manifestation of carnosinase deficiency (en) View
2471777017	en	Synonym (core metadata concept)	Clinical manifestation of carnosinase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2465501012 - Clinical manifestation of carnosinase deficiency (disorder) (en) View
2465501012	en	Fully specified name (core metadata concept)	Clinical manifestation of carnosinase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (2589230023) - 410050000 -> 360953004 (42752001) View
42752001 \|Due to (attribute)\|	360953004 \|Deficiency of aminoacyl-histidine dipeptidase (disorder)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2542644021) - 410050000 -> 410053003 (116680003) View
116680003 \|Is a (attribute)\|	410053003 \|Clinical manifestation of enzyme deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
410053003 View
410053003	Clinical manifestation of enzyme deficiency (disorder)	Clinical manifestation of enzyme deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
410051001 View
410051001	Carnosinuria (disorder)	Carnosinuria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
410052008 View
410052008	Carnosinemia (disorder)	Carnosinemia	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 (f2e6eeeb-f7a1-5b41-b285-46cb3cce9135) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E70.8	TRUE	ALWAYS E70.8	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 410050000

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