230265002: Familial Alzheimer's disease of early onset (disorder)

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

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Organic mental disorder\Dementia\Alzheimer's disease\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Organic mental disorder\Dementia\Presenile dementia\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration presenting primarily with dementia\Alzheimer's disease\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Organic mental disorder\Dementia\Alzheimer's disease\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Organic mental disorder\Dementia\Presenile dementia\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration presenting primarily with dementia\Alzheimer's disease\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset
\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 presenting primarily with dementia\Alzheimer's disease\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Disorder of brain (disorder)\...

\Organic mental disorder\Dementia\...

\Alzheimer's disease\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset

\Presenile dementia\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset

\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration presenting primarily with dementia\Alzheimer's disease\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset

\Disorder of head (disorder)\Disorder of brain (disorder)\...

\Organic mental disorder\Dementia\...

\Alzheimer's disease\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset

\Presenile dementia\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset

\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration presenting primarily with dementia\Alzheimer's disease\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset

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

\Alzheimer's disease\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset

\Presenile dementia\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset

\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration presenting primarily with dementia\Alzheimer's disease\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Organic mental disorder\Dementia\Alzheimer's disease\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Organic mental disorder\Dementia\Presenile dementia\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration presenting primarily with dementia\Alzheimer's disease\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset
\Disease\Disorder of body system\Disorder 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 presenting primarily with dementia\Alzheimer's disease\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Organic mental disorder\Dementia\Alzheimer's disease\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Organic mental disorder\Dementia\Presenile dementia\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration presenting primarily with dementia\Alzheimer's disease\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset
\Disease\Familial disease\Familial Alzheimer's disease of early onset
\Disease\Mental disorder\Organic mental disorder\Dementia\Alzheimer's disease\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset
\Disease\Mental disorder\Organic mental disorder\Dementia\Presenile dementia\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\Familial Alzheimer's disease of early onset

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

345083019 Familial Alzheimer's disease of early onset en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
618049010 Familial Alzheimer's disease of early onset (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2839446019 Familial Alzheimer disease of early onset en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
75941000077118 maladie d'Alzheimer familiale à début précoce fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial Alzheimer's disease of early onset	Is a	Familial disease	true	Inferred relationship	Some
Familial Alzheimer's disease of early onset	Is a	Primary degenerative dementia of the Alzheimer type, presenile onset, uncomplicated	false	Inferred relationship	Some
Familial Alzheimer's disease of early onset	Finding site	Structure of telencephalon	false	Inferred relationship	Some
Familial Alzheimer's disease of early onset	Associated morphology	dégénérescence	false	Inferred relationship	Some	1
Familial Alzheimer's disease of early onset	Finding site	Cerebrum	false	Inferred relationship	Some	1
Familial Alzheimer's disease of early onset	Has definitional manifestation	Dementia	false	Inferred relationship	Some
Familial Alzheimer's disease of early onset	Associated morphology	dégénérescence	false	Inferred relationship	Some	1
Familial Alzheimer's disease of early onset	Finding site	Cerebrum	true	Inferred relationship	Some	1
Familial Alzheimer's disease of early onset	Is a	Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)	true	Inferred relationship	Some
Familial Alzheimer's disease of early onset	Has interpretation	Impaired	true	Inferred relationship	Some	2
Familial Alzheimer's disease of early onset	Interprets	Cognitive functions	true	Inferred relationship	Some	2
Familial Alzheimer's disease of early onset	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)	Is a	True	Familial Alzheimer's disease of early onset	Inferred relationship	Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder)	Is a	True	Familial Alzheimer's disease of early onset	Inferred relationship	Some
Autosomal dominant Alzheimer disease due to mutation of amyloid precursor protein	Is a	True	Familial Alzheimer's disease of early onset	Inferred relationship	Some

This concept is not in any reference sets