721219005: Familial Alzheimer-like prion disease (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Infectious disease of brain\Prion disease\Familial Alzheimer-like prion disease (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Prion disease\Familial Alzheimer-like prion disease (disorder)
\Head finding (finding)\Disorder of head (disorder)\Infective disorder of head\Infectious disease of brain\Prion disease\Familial Alzheimer-like prion disease (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Infectious disease of brain\Prion disease\Familial Alzheimer-like prion disease (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Prion disease\Familial Alzheimer-like prion disease (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Infectious disease of brain\Prion disease\Familial Alzheimer-like prion disease (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Prion disease\Familial Alzheimer-like prion disease (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Infectious disease of central nervous system\Infectious disease of brain\Prion disease\Familial Alzheimer-like prion disease (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Infectious disease of brain\Prion disease\Familial Alzheimer-like prion disease (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Prion disease\Familial Alzheimer-like prion disease (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\Familial Alzheimer-like prion disease (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Prion disease\Familial Alzheimer-like prion disease (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Familial Alzheimer-like prion disease (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial Alzheimer-like prion disease (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Familial Alzheimer-like prion disease (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Prion disease\Familial Alzheimer-like prion disease (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Familial Alzheimer-like prion disease (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Familial Alzheimer-like prion disease (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Infectious disease of nervous system\Infectious disease of central nervous system\Infectious disease of brain\Prion disease\Familial Alzheimer-like prion disease (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Infectious disease of central nervous system\Infectious disease of brain\Prion disease\Familial Alzheimer-like prion disease (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Infectious disease of brain\Prion disease\Familial Alzheimer-like prion disease (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\Prion disease\Familial Alzheimer-like prion disease (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\Familial Alzheimer-like prion disease (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\Prion disease\Familial Alzheimer-like prion disease (disorder)
\Disease\Disorder of head (disorder)\Infective disorder of head\Infectious disease of brain\Prion disease\Familial Alzheimer-like prion disease (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Infectious disease of brain\Prion disease\Familial Alzheimer-like prion disease (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Prion disease\Familial Alzheimer-like prion disease (disorder)
\Disease\Familial disease\Familial Alzheimer-like prion disease (disorder)
\Disease\Infectious disease\Infective disorder of head\Infectious disease of brain\Prion disease\Familial Alzheimer-like prion disease (disorder)
\Disease\Infectious disease\Infectious disease of nervous system\Infectious disease of central nervous system\Infectious disease of brain\Prion disease\Familial Alzheimer-like prion disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3324649018 Familial Alzheimer-like prion disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3324650018 Familial Alzheimer-like prion disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5402638017 Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402639013 Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease characterised by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial Alzheimer-like prion disease (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial Alzheimer-like prion disease (disorder)	Is a	Prion disease	true	Inferred relationship	Some
Familial Alzheimer-like prion disease (disorder)	Is a	Familial disease	true	Inferred relationship	Some
Familial Alzheimer-like prion disease (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Familial Alzheimer-like prion disease (disorder)	Associated morphology	Spongy degeneration	true	Inferred relationship	Some	1
Familial Alzheimer-like prion disease (disorder)	Causative agent	Prion	true	Inferred relationship	Some	1
Familial Alzheimer-like prion disease (disorder)	Finding site	Brain tissue structure	false	Inferred relationship	Some	1
Familial Alzheimer-like prion disease (disorder)	Pathological process (attribute)	Infectious process (qualifier value)	true	Inferred relationship	Some	1
Familial Alzheimer-like prion disease (disorder)	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Familial Alzheimer-like prion disease (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3324649018	Familial Alzheimer-like prion disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3324650018	Familial Alzheimer-like prion disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5402638017	Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402639013	Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease characterised by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core