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Terminology chevron_right Concepts chevron_right 1255323007

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Component

1255323007

The component that hold information about this concept.

Fully Specified Name (FSN)

Spastic ataxia, dysarthria due to glutaminase deficiency (disorder)

Shortest Term

Spastic ataxia, dysarthria due to glutaminase 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

Spastic ataxia, dysarthria due to glutaminase deficiency (disorder)

SCTID: 1255323007, Primitive, Active

1255323007|Spastic ataxia, dysarthria due to glutaminase deficiency (disorder)|

en Spastic ataxia, dysarthria due to glutaminase deficiency
en Spastic ataxia, dysarthria due to glutaminase deficiency (disorder)

Expression

1255323007 |Spastic ataxia, dysarthria due to glutaminase deficiency (disorder)|
 <<< 128190004 |Inherited metabolic disorder of nervous system (disorder)| + 
128283000 |Chronic nervous system disorder (disorder)| + 
128289001 |Chronic metabolic disorder (disorder)| + 
190724004 |Disorder of glutamine metabolism (disorder)| + 
224958001 |Global developmental delay (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
763597000 |Hereditary ataxia (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
        { 370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 42752001 |Due to (attribute)| = 124507006 |Deficiency of glutaminase (disorder)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5146467012 - Spastic ataxia, dysarthria due to glutaminase deficiency (en) View
5146467012	en	Synonym (core metadata concept)	Spastic ataxia, dysarthria due to glutaminase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5146466015 - Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) (en) View
5146466015	en	Fully specified name (core metadata concept)	Spastic ataxia, dysarthria due to glutaminase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15401518026) - 1255323007 -> 128190004 (116680003) View
116680003 \|Is a (attribute)\|	128190004 \|Inherited metabolic disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15401519023) - 1255323007 -> 128283000 (116680003) View
116680003 \|Is a (attribute)\|	128283000 \|Chronic nervous system disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15401520028) - 1255323007 -> 128289001 (116680003) View
116680003 \|Is a (attribute)\|	128289001 \|Chronic metabolic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15401521029) - 1255323007 -> 190724004 (116680003) View
116680003 \|Is a (attribute)\|	190724004 \|Disorder of glutamine metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15401522020) - 1255323007 -> 224958001 (116680003) View
116680003 \|Is a (attribute)\|	224958001 \|Global developmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15401523026) - 1255323007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15401524021) - 1255323007 -> 763597000 (116680003) View
116680003 \|Is a (attribute)\|	763597000 \|Hereditary ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15401525022) - 1255323007 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15401526023) - 1255323007 -> 124507006 (42752001) View
42752001 \|Due to (attribute)\|	124507006 \|Deficiency of glutaminase (disorder)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15401527025) - 1255323007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15401528024) - 1255323007 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15401529027) - 1255323007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	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
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
763597000 View
763597000	Hereditary ataxia (disorder)	Hereditary ataxia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128283000 View
128283000	Chronic nervous system disorder (disorder)	Chronic nervous system disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128289001 View
128289001	Chronic metabolic disorder (disorder)	Chronic metabolic disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
190724004 View
190724004	Disorder of glutamine metabolism (disorder)	Disorder of glutamine metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
224958001 View
224958001	Global developmental delay (disorder)	Global developmental delay	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 (167c19f1-07b2-5c8b-a908-dcbc0ae53626) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E88.8	TRUE	ALWAYS E88.8 \| 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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