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Terminology chevron_right Concepts chevron_right 765329008

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Component

765329008

The component that hold information about this concept.

Fully Specified Name (FSN)

Carbamoyl-phosphate synthetase 1 deficiency (disorder)

Shortest Term

Carbamoyl-phosphate synthetase 1 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

Carbamoyl-phosphate synthetase 1 deficiency (disorder)

SCTID: 765329008, Primitive, Active

765329008|Carbamoyl-phosphate synthetase 1 deficiency (disorder)|

en Cps1-gene related carbamoyl-phosphate synthetase 1 deficiency
en Cps1 (carbamoyl-phosphate synthetase 1) deficiency
en Carbamoyl-phosphate synthetase 1 deficiency
en Carbamoyl-phosphate synthetase 1 deficiency (disorder)
en Carbamoyl-phosphate synthetase i deficiency

Expression

765329008 |Carbamoyl-phosphate synthetase 1 deficiency (disorder)|
 <<< 42930003 |Inborn error of amino acid metabolism (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
36444000 |Disorder of the urea cycle metabolism (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5286195017 - CPS1-gene related carbamoyl-phosphate synthetase 1 deficiency (en) View
5286195017	en	Synonym (core metadata concept)	CPS1-gene related carbamoyl-phosphate synthetase 1 deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3657935012 - CPS1 (carbamoyl-phosphate synthetase 1 ) deficiency (en) View
3657935012	en	Synonym (core metadata concept)	CPS1 (carbamoyl-phosphate synthetase 1 ) deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
3780968014 - CPS1 (carbamoyl-phosphate synthetase 1) deficiency (en) View
3780968014	en	Synonym (core metadata concept)	CPS1 (carbamoyl-phosphate synthetase 1) deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3657934011 - Carbamoyl-phosphate synthetase 1 deficiency (en) View
3657934011	en	Synonym (core metadata concept)	Carbamoyl-phosphate synthetase 1 deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3657933017 - Carbamoyl-phosphate synthetase 1 deficiency (disorder) (en) View
3657933017	en	Fully specified name (core metadata concept)	Carbamoyl-phosphate synthetase 1 deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3657932010 - Carbamoyl-phosphate synthetase I deficiency (en) View
3657932010	en	Synonym (core metadata concept)	Carbamoyl-phosphate synthetase I deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9257722020) - 765329008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9257721029) - 765329008 -> 42930003 (116680003) View
116680003 \|Is a (attribute)\|	42930003 \|Inborn error of amino acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9257723026) - 765329008 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9257724021) - 765329008 -> 36444000 (116680003) View
116680003 \|Is a (attribute)\|	36444000 \|Disorder of the urea cycle metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
36444000 View
36444000	Disorder of the urea cycle metabolism (disorder)	Disorder of urea cycle	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
42930003 View
42930003	Inborn error of amino acid metabolism (disorder)	Hyperaminoaciduria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	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 (2ea2d990-a759-5106-a9e2-f8447a643859) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E72.2	TRUE	ALWAYS E72.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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)\|

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