1156798001: Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)

\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)

\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)

\Presenile dementia (disorder)\Primary degenerative dementia of the Alzheimer type, presenile onset\Familial Alzheimer's disease of early onset\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\Disease\Familial disease\Familial Alzheimer's disease of early onset\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)	Interprets	Cognitive functions	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)	Is a	Familial Alzheimer's disease of early onset	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)	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

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
4576210013	Autosomal dominant Alzheimer disease with mutation of presenilin 2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4576890017	Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4576891018	Autosomal dominant Alzheimer disease due to mutation of presenilin 2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4576210013	Autosomal dominant Alzheimer disease with mutation of presenilin 2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4576890017	Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4576891018	Autosomal dominant Alzheimer disease due to mutation of presenilin 2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5768591000241116	maladie d'Alzheimer autosomique dominante due à une mutation de la préséniline 2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5768591000241116	maladie d'Alzheimer autosomique dominante due à une mutation de la préséniline 2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module