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Terminology chevron_right Concepts chevron_right 715366004

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Component

715366004

The component that hold information about this concept.

Fully Specified Name (FSN)

Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder)

Shortest Term

Ataxia oculomotor apraxia type 1

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 cerebellar ataxia with oculomotor apraxia type 1 (disorder)

SCTID: 715366004, Primitive, Active

715366004|Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder)|

en Ataxia oculomotor apraxia type 1
en Autosomal recessive ataxia with oculomotor apraxia type 1
en Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1
en Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder)
en Aoa1 (ataxia oculomotor apraxia type 1)

Expression

715366004 |Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder)|
 <<< 363343008 |Hereditary disorder of the visual system (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
193662007 |Oculomotor apraxia (disorder)| + 
85102008 |Cerebellar ataxia (disorder)| + 
763597000 |Hereditary ataxia (disorder)| : 
        { 363698007 |Finding site (attribute)| = 113305005 |Cerebellar structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 49549006 |Structure of visual system (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3302375017 - Ataxia oculomotor apraxia type 1 (en) View
3302375017	en	Synonym (core metadata concept)	Ataxia oculomotor apraxia type 1	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3302370010 - Autosomal recessive ataxia with oculomotor apraxia type 1 (en) View
3302370010	en	Synonym (core metadata concept)	Autosomal recessive ataxia with oculomotor apraxia type 1	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3302368018 - Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (en) View
3302368018	en	Synonym (core metadata concept)	Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3302367011 - Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) (en) View
3302367011	en	Fully specified name (core metadata concept)	Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3302371014 - AOA1 (ataxia oculomotor apraxia type 1) (en) View
3302371014	en	Synonym (core metadata concept)	AOA1 (ataxia oculomotor apraxia type 1)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6556231022) - 715366004 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6556233020) - 715366004 -> 49549006 (363698007) View
363698007 \|Finding site (attribute)\|	49549006 \|Structure of visual system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6556234025) - 715366004 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9142171020) - 715366004 -> 763597000 (116680003) View
116680003 \|Is a (attribute)\|	763597000 \|Hereditary ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6556228021) - 715366004 -> 85102008 (116680003) View
116680003 \|Is a (attribute)\|	85102008 \|Cerebellar ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6556229029) - 715366004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6556230023) - 715366004 -> 193662007 (116680003) View
116680003 \|Is a (attribute)\|	193662007 \|Oculomotor apraxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6556232026) - 715366004 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
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
193662007 View
193662007	Oculomotor apraxia (disorder)	Oculomotor apraxia	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
363343008 View
363343008	Hereditary disorder of the visual system (disorder)	Hereditary disorder of the visual system	900000000000073002 \|Sufficiently defined by necessary conditions 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 (812694b0-7177-5901-bc00-7d905395f8c3) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G11.3	TRUE	ALWAYS G11.3 \| 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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