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Terminology chevron_right Concepts chevron_right 68116008

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Component

68116008

The component that hold information about this concept.

Fully Specified Name (FSN)

Dentatorubropallidoluysian degeneration (disorder)

Shortest Term

Haw river syndrome

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

Dentatorubropallidoluysian degeneration (disorder)

SCTID: 68116008, Primitive, Active

68116008|Dentatorubropallidoluysian degeneration (disorder)|

en Dentatorubropallidoluysian atrophy
en Dentatorubropallidoluysian degeneration
en Dentatorubropallidoluysian degeneration (disorder)
en Dentatorubral-pallidoluysian atrophy
en Myoclonic epilepsy with choreoathetosis
en Haw river syndrome
en Naito-oyanagi disease
en Dentatorubral-pallidoluysian atrophy (drpla)
en Drpla - dentatorubropallidoluysian atrophy

Expression

68116008 |Dentatorubropallidoluysian degeneration (disorder)|
 <<< 271700006 |Chorea (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
763597000 |Hereditary ataxia (disorder)| + 
85102008 |Cerebellar ataxia (disorder)| : 
        { 363698007 |Finding site (attribute)| = 113305005 |Cerebellar structure (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 363847004 |Movement observable (observable entity)| }
        { 363698007 |Finding site (attribute)| = 32610002 |Basal ganglion structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
113147018 - Dentatorubropallidoluysian atrophy (en) View
113147018	en	Synonym (core metadata concept)	Dentatorubropallidoluysian atrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
113146010 - Dentatorubropallidoluysian degeneration (en) View
113146010	en	Synonym (core metadata concept)	Dentatorubropallidoluysian degeneration	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
807916014 - Dentatorubropallidoluysian degeneration (disorder) (en) View
807916014	en	Fully specified name (core metadata concept)	Dentatorubropallidoluysian degeneration (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2966555013 - Dentatorubral-pallidoluysian atrophy (en) View
2966555013	en	Synonym (core metadata concept)	Dentatorubral-pallidoluysian atrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3038926016 - Myoclonic epilepsy with choreoathetosis (en) View
3038926016	en	Synonym (core metadata concept)	Myoclonic epilepsy with choreoathetosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3038905016 - Haw river syndrome (en) View
3038905016	en	Synonym (core metadata concept)	Haw river syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3038903011 - Naito-Oyanagi disease (en) View
3038903011	en	Synonym (core metadata concept)	Naito-Oyanagi disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
2966608013 - Dentatorubral-pallidoluysian atrophy (DRPLA) (en) View
2966608013	en	Synonym (core metadata concept)	Dentatorubral-pallidoluysian atrophy (DRPLA)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
1233012014 - DRPLA - Dentatorubropallidoluysian atrophy (en) View
1233012014	en	Synonym (core metadata concept)	DRPLA - Dentatorubropallidoluysian atrophy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15512904026) - 68116008 -> 255324009 (363714003) View
363714003 \|Interprets (attribute)\|	255324009 \|Movement (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (258890026) - 68116008 -> 76349003 (116680003) View
116680003 \|Is a (attribute)\|	76349003 \|Extrapyramidal disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (258891027) - 68116008 -> 230298007 (116680003) View
116680003 \|Is a (attribute)\|	230298007 \|Disorder presenting primarily with chorea (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13882681026) - 68116008 -> 255324009 (363714003) View
363714003 \|Interprets (attribute)\|	255324009 \|Movement (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15502005021) - 68116008 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15502209024) - 68116008 -> 271700006 (116680003) View
116680003 \|Is a (attribute)\|	271700006 \|Chorea (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15508623021) - 68116008 -> 32610002 (363698007) View
363698007 \|Finding site (attribute)\|	32610002 \|Basal ganglion structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15512905025) - 68116008 -> 363847004 (363714003) View
363714003 \|Interprets (attribute)\|	363847004 \|Movement observable (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6029593029) - 68116008 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9141425021) - 68116008 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (844093023) - 68116008 -> 76375004 (363698007) View
363698007 \|Finding site (attribute)\|	76375004 \|Extrapyramidal system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9141423025) - 68116008 -> 85102008 (116680003) View
116680003 \|Is a (attribute)\|	85102008 \|Cerebellar ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9141424020) - 68116008 -> 763597000 (116680003) View
116680003 \|Is a (attribute)\|	763597000 \|Hereditary ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6029592023) - 68116008 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (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
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
271700006 View
271700006	Chorea (disorder)	Chorea	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
724765008 View
724765008	Chorea co-occurrent and due to dentatorubropallidoluysian degeneration (disorder)	Chorea with dentatorubropallidoluysian degeneration	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 (3bff8ff5-0b94-509a-8435-94e8a7fe397a) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G11.8	TRUE	ALWAYS G11.8 \| 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)\|
ExtendedMap object (aa8adc5a-dfd8-5fb8-86cb-f03e6f476406) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G11.9	TRUE	ALWAYS G11.9	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)\|
ExtendedMap object (fcc86e7d-7579-5404-8749-24bf47cbcff1) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G31.8	TRUE	ALWAYS G31.8	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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