1156798001: autosomaal dominante Alzheimer-dementie door mutatie van preseniline 2 (aandoening)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Organic mental disorder\Dementia\Alzheimer's disease\Familial Alzheimer's disease (disorder)\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 (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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\Head finding (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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration presenting primarily with dementia\Alzheimer's disease\Familial Alzheimer's disease (disorder)\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 (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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Organic mental disorder\Dementia\Alzheimer's disease\Familial Alzheimer's disease (disorder)\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 (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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\Head finding (finding)\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration presenting primarily with dementia\Alzheimer's disease\Familial Alzheimer's disease (disorder)\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 (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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Organic mental disorder\Dementia\Alzheimer's disease\Familial Alzheimer's disease (disorder)\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 (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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Familial Alzheimer's disease (disorder)\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 (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\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 (disorder)\Organic mental disorder\Dementia\Alzheimer's disease\Familial Alzheimer's disease (disorder)\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 (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\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 (disorder)\Organic mental disorder\Dementia\Presenile dementia\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\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 (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration presenting primarily with dementia\Alzheimer's disease\Familial Alzheimer's disease (disorder)\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 (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\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\Familial Alzheimer's disease (disorder)\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\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)

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

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

\Presenile dementia\Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)\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\Hereditary disorder of nervous system\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\Familial Alzheimer's disease (disorder)\Familial Alzheimer's disease of early onset\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 (disorder)\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\Hereditary disorder of 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\Disorder of nervous system (disorder)\Hereditary disorder of 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\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Organic mental disorder\Dementia\Alzheimer's disease\Familial Alzheimer's disease (disorder)\Familial Alzheimer's disease of early onset\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Familial Alzheimer's disease (disorder)\Familial Alzheimer's disease of early onset\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\Disease\Disorder of body system\Disorder 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\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\Familial Alzheimer's disease (disorder)\Familial Alzheimer's disease of early onset\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Organic mental disorder\Dementia\Alzheimer's disease\Familial Alzheimer's disease (disorder)\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 (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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration presenting primarily with dementia\Alzheimer's disease\Familial Alzheimer's disease (disorder)\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 (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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\Disease\Familial disease\Familial Alzheimer's disease (disorder)\Familial Alzheimer's disease of early onset\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\Disease\Mental disorder\Organic mental disorder\Dementia\Alzheimer's disease\Familial Alzheimer's disease (disorder)\Familial Alzheimer's disease of early onset\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)
\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\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	true	Inferred relationship	Some	1
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)	Interprets	Cognitive functions	true	Inferred relationship	Some	2
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)	Is a	Familial Alzheimer's disease of early onset	true	Inferred relationship	Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)	Finding site	Cerebrum	true	Inferred relationship	Some	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
12877371000146119	autosomaal dominante Alzheimer-dementie door mutatie van preseniline 2	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12877381000146117	autosomaal dominante Alzheimer-dementie door mutatie van preseniline 2 (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12877391000146115	autosomaal dominante ziekte van Alzheimer door mutatie van preseniline 2	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)