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Terminology chevron_right Concepts chevron_right 1260354005

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Component

1260354005

The component that hold information about this concept.

Fully Specified Name (FSN)

Frontotemporal dementia due to c9orf72 mutation (disorder)

Shortest Term

Frontotemporal dementia due to c9orf72 mutation

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

Frontotemporal dementia due to c9orf72 mutation (disorder)

SCTID: 1260354005, Primitive, Active

1260354005|Frontotemporal dementia due to c9orf72 mutation (disorder)|

en Frontotemporal dementia due to c9orf72 mutation
en Frontotemporal dementia due to c9orf72 mutation (disorder)
en Frontotemporal dementia due to chromosome 9 open reading frame 72 mutation

Expression

1260354005 |Frontotemporal dementia due to c9orf72 mutation (disorder)|
 <<< 192794001 |Cerebral degeneration associated with another disorder (disorder)| + 
230270009 |Frontotemporal dementia (disorder)| + 
722980006 |Dementia due to chromosomal anomaly (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107669003 |Degenerative abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 78277001 |Temporal lobe structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 107669003 |Degenerative abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 83251001 |Frontal lobe structure (body structure)| }
        { 42752001 |Due to (attribute)| = 5051002 |Anomaly of chromosome pair 9 (disorder)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 311465003 |Cognitive functions (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5168677018 - Frontotemporal dementia due to C9orf72 mutation (en) View
5168677018	en	Synonym (core metadata concept)	Frontotemporal dementia due to C9orf72 mutation	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
5160218010 - Frontotemporal dementia due to C9orf72 mutation (disorder) (en) View
5160218010	en	Fully specified name (core metadata concept)	Frontotemporal dementia due to C9orf72 mutation (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
5160219019 - Frontotemporal dementia due to chromosome 9 open reading frame 72 mutation (en) View
5160219019	en	Synonym (core metadata concept)	Frontotemporal dementia due to chromosome 9 open reading frame 72 mutation	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15677659023) - 1260354005 -> 722980006 (116680003) View
116680003 \|Is a (attribute)\|	722980006 \|Dementia due to chromosomal anomaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15677660029) - 1260354005 -> 311465003 (363714003) View
363714003 \|Interprets (attribute)\|	311465003 \|Cognitive functions (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15677661025) - 1260354005 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15492208020) - 1260354005 -> 192794001 (116680003) View
116680003 \|Is a (attribute)\|	192794001 \|Cerebral degeneration associated with another disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15492209028) - 1260354005 -> 230270009 (116680003) View
116680003 \|Is a (attribute)\|	230270009 \|Frontotemporal dementia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15492210022) - 1260354005 -> 5051002 (42752001) View
42752001 \|Due to (attribute)\|	5051002 \|Anomaly of chromosome pair 9 (disorder)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15492211021) - 1260354005 -> 78277001 (363698007) View
363698007 \|Finding site (attribute)\|	78277001 \|Temporal lobe structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15492212025) - 1260354005 -> 107669003 (116676008) View
116676008 \|Associated morphology (attribute)\|	107669003 \|Degenerative abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15492213024) - 1260354005 -> 83251001 (363698007) View
363698007 \|Finding site (attribute)\|	83251001 \|Frontal lobe structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15492214029) - 1260354005 -> 107669003 (116676008) View
116676008 \|Associated morphology (attribute)\|	107669003 \|Degenerative abnormality (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
722980006 View
722980006	Dementia due to chromosomal anomaly (disorder)	Dementia due to chromosomal anomaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
192794001 View
192794001	Cerebral degeneration associated with another disorder (disorder)	Cerebral degeneration in diseases ec	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
230270009 View
230270009	Frontotemporal dementia (disorder)	Picks 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 (1689d9de-ee6e-5409-ac6a-a52f41476a2d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	F02.0	TRUE	ALWAYS F02.0 \| THIS CODE MAY BE USED IN THE PRIMARY POSITION WHEN THE MANIFESTATION IS THE PRIMARY FOCUS OF CARE	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 (d7f6d240-7f28-5260-978d-bc801416ffe9) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q99.9	TRUE	ALWAYS Q99.9	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 (f559c785-7ee7-571e-bc94-07e6c182f655) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G31.0	TRUE	ALWAYS G31.0	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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