1156800008: Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder)

SNOMED CT Concept\Clinical finding\...

\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 1
\Central nervous system finding\Finding of brain\Disorder of brain\Organic mental disorder\Dementia\Presenile dementia\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 1
\Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\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 1
\Central nervous system finding\Disorder of the central nervous system\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 1
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Organic mental disorder\Dementia\Presenile dementia\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 1
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\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 1
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Autosomal dominant Alzheimer disease due to mutation of presenilin 1
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\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 1

\Finding of head and neck region\Head 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 1

\Presenile dementia\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 1

\Degenerative brain disorder\Cerebral degeneration\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 1

\Disorder of head\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 1

\Presenile dementia\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 1

\Degenerative brain disorder\Cerebral degeneration\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 1

\Functional finding\Cognitive function finding\Impaired cognition\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 1

\Presenile dementia\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 1

\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 1
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant Alzheimer disease due to mutation of presenilin 1
\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 1
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\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 1
\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 1
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Autosomal dominant Alzheimer disease due to mutation of presenilin 1
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\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 1
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Organic mental disorder\Dementia\Presenile dementia\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 1
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\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 1
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Autosomal dominant Alzheimer disease due to mutation of presenilin 1
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\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 1
\Disease\Disorder of head\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 1
\Disease\Disorder of head\Disorder of brain\Organic mental disorder\Dementia\Presenile dementia\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 1
\Disease\Disorder of head\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\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 1
\Disease\Familial disease\Familial Alzheimer's disease of early onset\Autosomal dominant Alzheimer disease due to mutation of presenilin 1
\Disease\Mental 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 1
\Disease\Mental disorder\Organic mental disorder\Dementia\Presenile dementia\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 1

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

Descriptions:

Id Description Lang Type Status Case? Module

4576214016 Autosomal dominant Alzheimer disease with mutation of presenilin 1 en Synonym Active Only initial character case insensitive SNOMED CT core module

4576888018 Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

4576889014 Autosomal dominant Alzheimer disease due to mutation of presenilin 1 en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets