721219005: Familial Alzheimer-like prion disease (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Infectious disease of brain\Prion disease\Familial Alzheimer-like prion disease

\Degenerative brain disorder\Prion disease\Familial Alzheimer-like prion disease

\Disorder of head\Infective disorder of head\Infectious disease of brain\Prion disease\Familial Alzheimer-like prion disease
\Disorder of head\Encephalopathy\Infectious disease of brain\Prion disease\Familial Alzheimer-like prion disease
\Disorder of head\Encephalopathy\Degenerative brain disorder\Prion disease\Familial Alzheimer-like prion disease

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

Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core

3324650018 Familial Alzheimer-like prion disease en Synonym Active Initial character case insensitive SNOMED CT core

3324651019 An exceedingly rare form of prion disease with characteristics of 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Disease caused by microorganism or bacterial toxin reference set

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3324649018	Familial Alzheimer-like prion disease (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3324650018	Familial Alzheimer-like prion disease	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3324651019	An exceedingly rare form of prion disease with characteristics of 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	Case sensitive	SNOMED CT core