702393003: Frontotemporal dementia with gene located on 3p11 (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain\Organic mental disorder\Dementia\Frontotemporal dementia\CHMP2B-related frontotemporal dementia
\Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Frontotemporal degeneration\Frontotemporal dementia\CHMP2B-related frontotemporal dementia
\Head finding (finding)\Finding of head region\Frontotemporal degeneration\Frontotemporal dementia\CHMP2B-related frontotemporal dementia
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Organic mental disorder\Dementia\Frontotemporal dementia\CHMP2B-related frontotemporal dementia
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Frontotemporal degeneration\Frontotemporal dementia\CHMP2B-related frontotemporal dementia

\Central nervous system finding\Finding of brain\Disorder of brain\Organic mental disorder\Dementia\Frontotemporal dementia\CHMP2B-related frontotemporal dementia
\Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Frontotemporal degeneration\Frontotemporal dementia\CHMP2B-related frontotemporal dementia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Organic mental disorder\Dementia\Frontotemporal dementia\CHMP2B-related frontotemporal dementia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Frontotemporal degeneration\Frontotemporal dementia\CHMP2B-related frontotemporal dementia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\CHMP2B-related frontotemporal dementia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Frontotemporal degeneration\Frontotemporal dementia\CHMP2B-related frontotemporal dementia

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Dementia\Frontotemporal dementia\CHMP2B-related frontotemporal dementia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\CHMP2B-related frontotemporal dementia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\CHMP2B-related frontotemporal dementia
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\CHMP2B-related frontotemporal dementia
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Frontotemporal degeneration\Frontotemporal dementia\CHMP2B-related frontotemporal dementia
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\CHMP2B-related frontotemporal dementia
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\CHMP2B-related frontotemporal dementia
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Organic mental disorder\Dementia\Frontotemporal dementia\CHMP2B-related frontotemporal dementia
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Frontotemporal degeneration\Frontotemporal dementia\CHMP2B-related frontotemporal dementia
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\CHMP2B-related frontotemporal dementia
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Frontotemporal degeneration\Frontotemporal dementia\CHMP2B-related frontotemporal dementia
\Disease\Disorder of head (disorder)\Disorder of brain\Organic mental disorder\Dementia\Frontotemporal dementia\CHMP2B-related frontotemporal dementia
\Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Frontotemporal degeneration\Frontotemporal dementia\CHMP2B-related frontotemporal dementia
\Disease\Mental disorder (disorder)\Organic mental disorder\Dementia\Frontotemporal dementia\CHMP2B-related frontotemporal dementia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
CHMP2B-related frontotemporal dementia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
CHMP2B-related frontotemporal dementia	Is a	Frontotemporal dementia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
CHMP2B-related frontotemporal dementia	Is a	Hereditary disorder of nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
CHMP2B-related frontotemporal dementia	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
CHMP2B-related frontotemporal dementia	Finding site	Temporal lobe structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
CHMP2B-related frontotemporal dementia	Finding site	Frontal lobe structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
CHMP2B-related frontotemporal dementia	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
CHMP2B-related frontotemporal dementia	Finding site	Temporal lobe structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
CHMP2B-related frontotemporal dementia	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
CHMP2B-related frontotemporal dementia	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
CHMP2B-related frontotemporal dementia	Interprets	Cognitive functions	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
CHMP2B-related frontotemporal dementia	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
2995032019	Frontotemporal dementia with gene located on 3p11 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995083019	Frontotemporal dementia with gene located on 3p11	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995149012	Chromosome 3-linked frontotemporal dementia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995366019	CHMP2B-related frontotemporal dementia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995032019	Frontotemporal dementia with gene located on 3p11 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995032019	Frontotemporal dementia with gene located on 3p11 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995083019	Frontotemporal dementia with gene located on 3p11	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995083019	Frontotemporal dementia with gene located on 3p11	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995149012	Chromosome 3-linked frontotemporal dementia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995149012	Chromosome 3-linked frontotemporal dementia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995366019	CHMP2B-related frontotemporal dementia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6167781000241119	DFT (démence frontotemporale) par mutation d'un gène situé sur le chromosome 3p11	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6167791000241117	démence frontotemporale par mutation d'un gène situé sur le chromosome 3p11	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6167781000241119	DFT (démence frontotemporale) par mutation d'un gène situé sur le chromosome 3p11	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6167791000241117	démence frontotemporale par mutation d'un gène situé sur le chromosome 3p11	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module