1260352009: Frontotemporal dementia due to TARDBP mutation (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain\Organic mental disorder\Dementia\Frontotemporal dementia\Frontotemporal dementia due to TARDBP mutation
\Head finding (finding)\Finding of brain\Disorder of brain\Organic mental disorder\Dementia\Dementia associated with another disease (disorder)\Dementia due to chromosomal anomaly (disorder)\Frontotemporal dementia due to TARDBP mutation
\Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Frontotemporal degeneration\Frontotemporal dementia\Frontotemporal dementia due to TARDBP mutation
\Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in diseases EC (disorder)\Frontotemporal dementia due to TARDBP mutation
\Head finding (finding)\Finding of head region\Frontotemporal degeneration\Frontotemporal dementia\Frontotemporal dementia due to TARDBP mutation
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Organic mental disorder\Dementia\Frontotemporal dementia\Frontotemporal dementia due to TARDBP mutation
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Organic mental disorder\Dementia\Dementia associated with another disease (disorder)\Dementia due to chromosomal anomaly (disorder)\Frontotemporal dementia due to TARDBP mutation
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Frontotemporal degeneration\Frontotemporal dementia\Frontotemporal dementia due to TARDBP mutation
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in diseases EC (disorder)\Frontotemporal dementia due to TARDBP mutation

\Central nervous system finding\Finding of brain\Disorder of brain\Organic mental disorder\Dementia\Frontotemporal dementia\Frontotemporal dementia due to TARDBP mutation
\Central nervous system finding\Finding of brain\Disorder of brain\Organic mental disorder\Dementia\Dementia associated with another disease (disorder)\Dementia due to chromosomal anomaly (disorder)\Frontotemporal dementia due to TARDBP mutation
\Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Frontotemporal degeneration\Frontotemporal dementia\Frontotemporal dementia due to TARDBP mutation
\Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in diseases EC (disorder)\Frontotemporal dementia due to TARDBP mutation
\Central nervous system finding\Disorder of the central nervous system (disorder)\Central nervous system complication\Cerebral degeneration in diseases EC (disorder)\Frontotemporal dementia due to TARDBP mutation
\Central nervous system finding\Disorder of the central nervous system (disorder)\Central nervous system complication\Dementia associated with another disease (disorder)\Dementia due to chromosomal anomaly (disorder)\Frontotemporal dementia due to TARDBP mutation
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Organic mental disorder\Dementia\Frontotemporal dementia\Frontotemporal dementia due to TARDBP mutation
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Organic mental disorder\Dementia\Dementia associated with another disease (disorder)\Dementia due to chromosomal anomaly (disorder)\Frontotemporal dementia due to TARDBP mutation
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Frontotemporal degeneration\Frontotemporal dementia\Frontotemporal dementia due to TARDBP mutation
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in diseases EC (disorder)\Frontotemporal dementia due to TARDBP mutation
\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\Frontotemporal dementia due to TARDBP mutation
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in diseases EC (disorder)\Frontotemporal dementia due to TARDBP mutation

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Dementia\...

\Frontotemporal dementia\Frontotemporal dementia due to TARDBP mutation

\Dementia associated with another disease (disorder)\Dementia due to chromosomal anomaly (disorder)\Frontotemporal dementia due to TARDBP mutation

\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Frontotemporal degeneration\Frontotemporal dementia\Frontotemporal dementia due to TARDBP mutation
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in diseases EC (disorder)\Frontotemporal dementia due to TARDBP mutation
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system complication\Cerebral degeneration in diseases EC (disorder)\Frontotemporal dementia due to TARDBP mutation
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system complication\Dementia associated with another disease (disorder)\Dementia due to chromosomal anomaly (disorder)\Frontotemporal dementia due to TARDBP mutation
\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\Frontotemporal dementia due to TARDBP mutation
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Organic mental disorder\Dementia\Dementia associated with another disease (disorder)\Dementia due to chromosomal anomaly (disorder)\Frontotemporal dementia due to TARDBP mutation
\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\Frontotemporal dementia due to TARDBP mutation
\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)\Cerebral degeneration in diseases EC (disorder)\Frontotemporal dementia due to TARDBP mutation
\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\Frontotemporal dementia due to TARDBP mutation
\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)\Cerebral degeneration in diseases EC (disorder)\Frontotemporal dementia due to TARDBP mutation
\Disease\Disorder of head (disorder)\Disorder of brain\Organic mental disorder\Dementia\Frontotemporal dementia\Frontotemporal dementia due to TARDBP mutation
\Disease\Disorder of head (disorder)\Disorder of brain\Organic mental disorder\Dementia\Dementia associated with another disease (disorder)\Dementia due to chromosomal anomaly (disorder)\Frontotemporal dementia due to TARDBP mutation
\Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Frontotemporal degeneration\Frontotemporal dementia\Frontotemporal dementia due to TARDBP mutation
\Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in diseases EC (disorder)\Frontotemporal dementia due to TARDBP mutation
\Disease\Mental disorder (disorder)\Organic mental disorder\Dementia\Frontotemporal dementia\Frontotemporal dementia due to TARDBP mutation
\Disease\Mental disorder (disorder)\Organic mental disorder\Dementia\Dementia associated with another disease (disorder)\Dementia due to chromosomal anomaly (disorder)\Frontotemporal dementia due to TARDBP mutation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5160212011 Frontotemporal dementia due to TARDBP mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5160213018 Frontotemporal dementia due to TARDBP mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5160212011 Frontotemporal dementia due to TARDBP mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5160213018 Frontotemporal dementia due to TARDBP mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Frontotemporal dementia due to TARDBP mutation	Is a	Cerebral degeneration in diseases EC (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Frontotemporal dementia due to TARDBP mutation	Is a	Frontotemporal dementia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Frontotemporal dementia due to TARDBP mutation	Due to	Anomaly of chromosome pair 1	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Frontotemporal dementia due to TARDBP mutation	Finding site	Temporal lobe structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Frontotemporal dementia due to TARDBP mutation	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Frontotemporal dementia due to TARDBP mutation	Finding site	Frontal lobe structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Frontotemporal dementia due to TARDBP mutation	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Frontotemporal dementia due to TARDBP mutation	Is a	Dementia due to chromosomal anomaly (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Frontotemporal dementia due to TARDBP mutation	Interprets	Cognitive functions	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Frontotemporal dementia due to TARDBP mutation	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4

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
5160212011	Frontotemporal dementia due to TARDBP mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5160213018	Frontotemporal dementia due to TARDBP mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5160212011	Frontotemporal dementia due to TARDBP mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5160213018	Frontotemporal dementia due to TARDBP mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core