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

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

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

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

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

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	Existential restriction modifier (core metadata concept)
Familial Alzheimer's disease of early onset	Is a	Primary degenerative dementia of the Alzheimer type, presenile onset, uncomplicated	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial Alzheimer's disease of early onset	Finding site	Structure of telencephalon	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial Alzheimer's disease of early onset	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial Alzheimer's disease of early onset	Finding site	The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica.	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial Alzheimer's disease of early onset	Has definitional manifestation	Dementia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial Alzheimer's disease of early onset	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial Alzheimer's disease of early onset	Finding site	The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica.	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial Alzheimer's disease of early onset	Is a	Primary degenerative dementia of the Alzheimer type, presenile onset	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial Alzheimer's disease of early onset	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Familial Alzheimer's disease of early onset	Interprets	Cognitive functions	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Familial Alzheimer's disease of early onset	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)
Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder)	Is a	True	Familial Alzheimer's disease of early onset	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant Alzheimer disease due to mutation of amyloid precursor protein	Is a	True	Familial Alzheimer's disease of early onset	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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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
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
3449261001000118	Alzheimer-Krankheit mit frühem Beginn, autosomal-dominante	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
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
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
3449261001000118	Alzheimer-Krankheit mit frühem Beginn, autosomal-dominante	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module