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Terminology chevron_right Concepts chevron_right 782743001

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Component

782743001

The component that hold information about this concept.

Fully Specified Name (FSN)

Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)

Shortest Term

C9orf72-related huntington disease phenocopy

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

Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)

SCTID: 782743001, Primitive, Active

782743001|Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)|

en C9orf72-related huntington disease phenocopy
en Huntington disease-like syndrome due to c9orf72 expansions
en Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions
en Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)

Expression

782743001 |Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
702376003 |Huntington disease-like syndrome (disorder)| + 
418143002 |Cerebral degeneration (disorder)| + 
106018006 |Hereditary degenerative disease of central nervous system (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107669003 |Degenerative abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 32610002 |Basal ganglion structure (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 363847004 |Movement observable (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3755564014 - C9ORF72-related Huntington disease phenocopy (en) View
3755564014	en	Synonym (core metadata concept)	C9ORF72-related Huntington disease phenocopy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3755562013 - Huntington disease-like syndrome due to C9ORF72 expansions (en) View
3755562013	en	Synonym (core metadata concept)	Huntington disease-like syndrome due to C9ORF72 expansions	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3755563015 - Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (en) View
3755563015	en	Synonym (core metadata concept)	Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3755561018 - Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder) (en) View
3755561018	en	Fully specified name (core metadata concept)	Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15512991026) - 782743001 -> 255324009 (363714003) View
363714003 \|Interprets (attribute)\|	255324009 \|Movement (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13882922022) - 782743001 -> 255324009 (363714003) View
363714003 \|Interprets (attribute)\|	255324009 \|Movement (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15502055029) - 782743001 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15512992022) - 782743001 -> 363847004 (363714003) View
363714003 \|Interprets (attribute)\|	363847004 \|Movement observable (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226267024) - 782743001 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11226268025) - 782743001 -> 33359002 (116676008) View
116676008 \|Associated morphology (attribute)\|	33359002 \|Degeneration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12094560027) - 782743001 -> 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 (12094561028) - 782743001 -> 107669003 (116676008) View
116676008 \|Associated morphology (attribute)\|	107669003 \|Degenerative abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226263023) - 782743001 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226264028) - 782743001 -> 702376003 (116680003) View
116680003 \|Is a (attribute)\|	702376003 \|Huntington disease-like syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226265027) - 782743001 -> 418143002 (116680003) View
116680003 \|Is a (attribute)\|	418143002 \|Cerebral degeneration (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226266026) - 782743001 -> 32610002 (363698007) View
363698007 \|Finding site (attribute)\|	32610002 \|Basal ganglion structure (body structure)\|	1	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
702376003 View
702376003	Huntington disease-like syndrome (disorder)	Huntington disease-like syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
418143002 View
418143002	Cerebral degeneration (disorder)	Cerebral degeneration	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

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 (1e146b96-50ff-5eab-b8ad-fe5bc1df2eb3) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G10	TRUE	ALWAYS G10 \| 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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