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Terminology chevron_right Concepts chevron_right 764456001

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Component

764456001

The component that hold information about this concept.

Fully Specified Name (FSN)

Hyperammonemic encephalopathy due to carbonic anhydrase va deficiency (disorder)

Shortest Term

Carbonic anhydrase va 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

Hyperammonemic encephalopathy due to carbonic anhydrase va deficiency (disorder)

SCTID: 764456001, Primitive, Active

764456001|Hyperammonemic encephalopathy due to carbonic anhydrase va deficiency (disorder)|

en Ca5a related hyperammonemic encephalopathy due to carbonic anhydrase va deficiency
en Carbonic anhydrase 5a related hyperammonemic encephalopathy due to carbonic anhydrase va deficiency
en Carbonic anhydrase va deficiency
en Ca-va (carbonic anhydrase va) deficiency
en Hyperammonemic encephalopathy due to carbonic anhydrase va deficiency
en Hyperammonemic encephalopathy due to carbonic anhydrase va deficiency (disorder)

Expression

764456001 |Hyperammonemic encephalopathy due to carbonic anhydrase va deficiency (disorder)|
 <<< 425522009 |Hyperammonemic encephalopathy (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
116020001 |Disorder of branched-chain amino acid metabolism (disorder)| + 
128190004 |Inherited metabolic disorder of nervous system (disorder)| : 
        { 363698007 |Finding site (attribute)| = 280369009 |Brain tissue structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 42752001 |Due to (attribute)| = 9360008 |Hyperammonemia (disorder)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5285682015 - CA5A related hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (en) View
5285682015	en	Synonym (core metadata concept)	CA5A related hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5285683013 - Carbonic anhydrase 5A related hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (en) View
5285683013	en	Synonym (core metadata concept)	Carbonic anhydrase 5A related hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3649916011 - Carbonic anhydrase VA deficiency (en) View
3649916011	en	Synonym (core metadata concept)	Carbonic anhydrase VA deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3649620013 - CA-VA (carbonic anhydrase VA) deficiency (en) View
3649620013	en	Synonym (core metadata concept)	CA-VA (carbonic anhydrase VA) deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3649918012 - Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (en) View
3649918012	en	Synonym (core metadata concept)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3649917019 - Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) (en) View
3649917019	en	Fully specified name (core metadata concept)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9182163022) - 764456001 -> 66091009 (116680003) View
116680003 \|Is a (attribute)\|	66091009 \|Congenital disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9182166025) - 764456001 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9224394020) - 764456001 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9560925021) - 764456001 -> 280369009 (363698007) View
363698007 \|Finding site (attribute)\|	280369009 \|Brain tissue structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15810969029) - 764456001 -> 128190004 (116680003) View
116680003 \|Is a (attribute)\|	128190004 \|Inherited metabolic disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15810970028) - 764456001 -> 280369009 (363698007) View
363698007 \|Finding site (attribute)\|	280369009 \|Brain tissue structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9182162028) - 764456001 -> 9360008 (42752001) View
42752001 \|Due to (attribute)\|	9360008 \|Hyperammonemia (disorder)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9182164027) - 764456001 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9182165026) - 764456001 -> 116020001 (116680003) View
116680003 \|Is a (attribute)\|	116020001 \|Disorder of branched-chain amino acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9182167023) - 764456001 -> 425522009 (116680003) View
116680003 \|Is a (attribute)\|	425522009 \|Hyperammonemic encephalopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224393025) - 764456001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
128190004 View
128190004	Inherited metabolic disorder of nervous system (disorder)	Inherited metabolic disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
425522009 View
425522009	Hyperammonemic encephalopathy (disorder)	Hyperammonemic encephalopathy	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
116020001 View
116020001	Disorder of branched-chain amino acid metabolism (disorder)	Branched chain amino acid metabolism disorder	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 (950b4790-1762-584c-a014-f3be64e9ec76) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E74.8	TRUE	ALWAYS E74.8 \| 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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