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Terminology chevron_right Concepts chevron_right 398680004

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Component

398680004

The component that hold information about this concept.

Fully Specified Name (FSN)

Citrullinemia (disorder)

Shortest Term

Citrullinemia

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

Citrullinemia (disorder)

SCTID: 398680004, Primitive, Active

398680004|Citrullinemia (disorder)|

en Citrullinaemia
en Citrullinemia
en Citrullinemia (disorder)

Expression

398680004 |Citrullinemia (disorder)|
 <<< 78548001 |Enzymopathy (disorder)| + 
46556004 |Aminoacidemia (disorder)| + 
36444000 |Disorder of the urea cycle metabolism (disorder)| + 
1821000146108 |Hereditary metabolic disease (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
1786527019 - Argininosuccinase deficiency (en) View
1786527019	en	Synonym (core metadata concept)	Argininosuccinase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	False
1786524014 - Argininosuccinate synthase deficiency (en) View
1786524014	en	Synonym (core metadata concept)	Argininosuccinate synthase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	False
1786529016 - Arginosuccinate synthetase deficiency (en) View
1786529016	en	Synonym (core metadata concept)	Arginosuccinate synthetase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	False
1786528012 - ASAS deficiency (en) View
1786528012	en	Synonym (core metadata concept)	ASAS deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
1786526011 - ASA synthase deficiency (en) View
1786526011	en	Synonym (core metadata concept)	ASA synthase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
1786525010 - ASS deficiency (en) View
1786525010	en	Synonym (core metadata concept)	ASS deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
1773235018 - Citrullinaemia (en) View
1773235018	en	Synonym (core metadata concept)	Citrullinaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1774521013 - Citrullinemia (en) View
1774521013	en	Synonym (core metadata concept)	Citrullinemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1766599016 - Citrullinemia (disorder) (en) View
1766599016	en	Fully specified name (core metadata concept)	Citrullinemia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15900982029) - 398680004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2706126029) - 398680004 -> 32895009 (116680003) View
116680003 \|Is a (attribute)\|	32895009 \|Hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15281259022) - 398680004 -> 1821000146108 (116680003) View
116680003 \|Is a (attribute)\|	1821000146108 \|Hereditary metabolic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2282458022) - 398680004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2282457028) - 398680004 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2243947027) - 398680004 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2243948021) - 398680004 -> 46556004 (116680003) View
116680003 \|Is a (attribute)\|	46556004 \|Aminoacidemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2243949029) - 398680004 -> 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
1821000146108 View
1821000146108	Hereditary metabolic disease (disorder)	Hereditary metabolic disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
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
46556004 View
46556004	Aminoacidemia (disorder)	Aminoacidemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
78548001 View
78548001	Enzymopathy (disorder)	Enzymopathy	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
1149103000 View
1149103000	Citrullinemia type i (disorder)	Citrullinemia type 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
30529005 View
30529005	Citrullinemia, neonatal type (disorder)	Citrullinemia, neonatal type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
429735007 View
429735007	Citrin deficiency (disorder)	Citrullinemia ll	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
3140001 View
3140001	Citrullinemia, subacute type (disorder)	Citrullinemia, subacute type	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 (821d8cdb-c1b5-55e8-b7ea-a79d077431fb) 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)\|

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