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20484008: Prion disease (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain\Infectious disease of brain\Prion disease
\Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Prion disease
\Head finding (finding)\Disorder of head (disorder)\Infective disorder of head\Infectious disease of brain\Prion disease
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Infectious disease of brain\Prion disease
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Prion disease

\Central nervous system finding\Finding of brain\Disorder of brain\Infectious disease of brain\Prion disease
\Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Prion disease
\Central nervous system finding\Disorder of the central nervous system (disorder)\Infectious disease of central nervous system\Infectious disease of brain\Prion disease
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Infectious disease of brain\Prion disease
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Prion disease
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Prion disease

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Prion disease	Is a	Cerebral degeneration presenting primarily with dementia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Prion disease	Is a	Infectious disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Prion disease	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Prion disease	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Prion disease	Pathological process	Infectious disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Prion disease	Finding site	Structure of telencephalon	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Prion disease	Causative agent (attribute)	Prion	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Prion disease	Is a	Infectious disease of brain	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Prion disease	Is a	Congenital anomaly of head	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Prion disease	Is a	Spongy degeneration of central nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Prion disease	Is a	syndrome cérébral non spécifique	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Prion disease	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Prion disease	Finding site	Brain tissue structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Prion disease	Associated morphology	Spongy degeneration (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Prion disease	Is a	Congenital infectious disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Prion disease	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Prion disease	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.	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Prion disease	Has definitional manifestation	Dementia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Prion disease	Associated morphology	Spongy degeneration (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Prion disease	Finding site	Brain tissue structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Prion disease	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Prion disease	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.	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Prion disease	Pathological process (attribute)	Infectious process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Prion disease	Is a	Infectious disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Prion disease	Is a	Infective disorder of head	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Prion disease	Causative agent (attribute)	Prion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Prion disease	Associated morphology	Spongy degeneration (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Prion disease	Finding site	Brain tissue structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Prion disease	Pathological process (attribute)	Infectious process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Prion disease	Is a	Degenerative brain disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Prion disease	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Prion disease	Pathological process (attribute)	Infectious process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Prion disease	Causative agent (attribute)	Prion	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Spongiform encephalopathy	Is a	True	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Chronic wasting disease of captive mule deer AND/OR elk	Is a	False	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Bovine spongiform encephalopathy	Is a	False	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Gerstmann-Straussler-Scheinker syndrome	Is a	True	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Transmissible mink encephalopathy	Is a	False	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Jakob-Creutzfeldt disease (disorder)	Is a	True	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Fatal familial insomnia	Is a	True	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Kuru	Is a	False	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive subcortical gliosis	Is a	True	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebral degeneration due to Creutzfeldt-Jakob disease (disorder)	Is a	False	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)
[X]Dementia in Creutzfeldt-Jakob disease	Is a	False	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Bovine spongiform encephalopathy	Is a	False	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Prion disease associated with AIDS (disorder)	Is a	False	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Variant Creutzfeldt-Jakob disease (disorder)	Is a	True	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial Alzheimer-like prion disease (disorder)	Is a	True	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Variably protease sensitive prionopathy (disorder)	Is a	True	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Acquired prion disease (disorder)	Is a	True	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections.	Is a	True	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Dementia due to prion disease	Due to	True	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Tic disorder due to prion disease	Due to	True	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Parkinsonism due to prion disease (disorder)	Due to	True	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Disorder of autonomic nervous system due to prion disease (disorder)	Due to	True	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Chorea due to prion disease (disorder)	Due to	True	Prion disease	Inferred relationship	Existential restriction modifier (core metadata concept)	2

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
34472014	Prion disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
749644017	Prion disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4551687011	Transmissible spongiform encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
34472014	Prion disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
34472014	Prion disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
34472014	Prion disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
749644017	Prion disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
749644017	Prion disease (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
749644017	Prion disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
749644017	Prion disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4551687011	Transmissible spongiform encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
194881000077117	maladie à prion	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
194881000077117	maladie à prion	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module