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Terminology chevron_right Concepts chevron_right 784347002

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Component

784347002

The component that hold information about this concept.

Fully Specified Name (FSN)

Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome (disorder)

Shortest Term

Autosomal recessive spastic ataxia type 4

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

Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome (disorder)

SCTID: 784347002, Primitive, Active

784347002|Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome (disorder)|

en Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
en Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome (disorder)
en Autosomal recessive spastic ataxia type 4
en Spax 4 - autosomal recessive spastic ataxia type 4

Expression

784347002 |Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome (disorder)|
 <<< 763597000 |Hereditary ataxia (disorder)| + 
8011004 |Dysarthria (finding)| + 
240096000 |Mitochondrial cytopathy (disorder)| + 
312942003 |Inherited optic neuropathy (disorder)| + 
106018006 |Hereditary degenerative disease of central nervous system (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
76976005 |Optic atrophy (disorder)| + 
85102008 |Cerebellar ataxia (disorder)| + 
106152006 |Second cranial nerve finding (finding)| : 
        { 116676008 |Associated morphology (attribute)| = 13331008 |Atrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 18234004 |Optic nerve structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 113305005 |Cerebellar structure (body structure)| }
        { 363714003 |Interprets (attribute)| = 363918005 |Speech observable (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3763717011 - Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome (en) View
3763717011	en	Synonym (core metadata concept)	Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3763718018 - Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome (disorder) (en) View
3763718018	en	Fully specified name (core metadata concept)	Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3763716019 - Autosomal recessive spastic ataxia type 4 (en) View
3763716019	en	Synonym (core metadata concept)	Autosomal recessive spastic ataxia type 4	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3763719014 - SPAX 4 - autosomal recessive spastic ataxia type 4 (en) View
3763719014	en	Synonym (core metadata concept)	SPAX 4 - autosomal recessive spastic ataxia type 4	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15540617029) - 784347002 -> 363918005 (363714003) View
363714003 \|Interprets (attribute)\|	363918005 \|Speech observable (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11372704029) - 784347002 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11372711025) - 784347002 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12094746026) - 784347002 -> 312942003 (116680003) View
116680003 \|Is a (attribute)\|	312942003 \|Inherited optic neuropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12094747024) - 784347002 -> 106018006 (116680003) View
116680003 \|Is a (attribute)\|	106018006 \|Hereditary degenerative disease of central nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11372705028) - 784347002 -> 763597000 (116680003) View
116680003 \|Is a (attribute)\|	763597000 \|Hereditary ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11372706027) - 784347002 -> 18234004 (363698007) View
363698007 \|Finding site (attribute)\|	18234004 \|Optic nerve structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11372707020) - 784347002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11372708026) - 784347002 -> 13331008 (116676008) View
116676008 \|Associated morphology (attribute)\|	13331008 \|Atrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11372709023) - 784347002 -> 76976005 (116680003) View
116680003 \|Is a (attribute)\|	76976005 \|Optic atrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11372710029) - 784347002 -> 85102008 (116680003) View
116680003 \|Is a (attribute)\|	85102008 \|Cerebellar ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11372713027) - 784347002 -> 106152006 (116680003) View
116680003 \|Is a (attribute)\|	106152006 \|Second cranial nerve finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11372714022) - 784347002 -> 8011004 (116680003) View
116680003 \|Is a (attribute)\|	8011004 \|Dysarthria (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11372715023) - 784347002 -> 240096000 (116680003) View
116680003 \|Is a (attribute)\|	240096000 \|Mitochondrial cytopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11573255022) - 784347002 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
106018006 View
106018006	Hereditary degenerative disease of central nervous system (disorder)	Hereditary degenerative disease of central nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
312942003 View
312942003	Inherited optic neuropathy (disorder)	Inherited optic neuropathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
85102008 View
85102008	Cerebellar ataxia (disorder)	Cerebellar ataxia	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
76976005 View
76976005	Optic atrophy (disorder)	Teo thị giác	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
106152006 View
106152006	Second cranial nerve finding (finding)	Optic nerve finding	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
8011004 View
8011004	Dysarthria (finding)	Dysarthria	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
240096000 View
240096000	Mitochondrial cytopathy (disorder)	Mitochondrial disease	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 (a59cd0cd-7a24-5ad1-b270-e709f7bf906b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G11.4	TRUE	ALWAYS G11.4 \| 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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