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20484008: Prion disease (disorder)

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

Descriptions:

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
194881000077117 maladie à prion fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2396901000195118 Prionenkrankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2396911000195116 TSE - Transmissible spongioforme Enzephalopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

18 descendants. Search Descendants:

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 Some
Prion disease Is a Infectious disease false Inferred relationship Some
Prion disease Associated morphology dégénérescence false Inferred relationship Some 1
Prion disease Finding site Structure of central nervous system (body structure) false Inferred relationship Some 1
Prion disease Pathological process Infectious disease false Inferred relationship Some
Prion disease Finding site Structure of telencephalon false Inferred relationship Some
Prion disease Causative agent (attribute) Prion false Inferred relationship Some
Prion disease Is a Infectious disease of brain true Inferred relationship Some
Prion disease Is a Congenital anomaly of head false Inferred relationship Some
Prion disease Is a Spongy degeneration of central nervous system false Inferred relationship Some
Prion disease Is a syndrome cérébral non spécifique false Inferred relationship Some
Prion disease Occurrence Congenital false Inferred relationship Some
Prion disease Finding site Brain tissue structure false Inferred relationship Some 1
Prion disease Associated morphology Spongy degeneration false Inferred relationship Some 1
Prion disease Is a Congenital infectious disease false Inferred relationship Some
Prion disease Associated morphology dégénérescence false Inferred relationship Some 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 Some 2
Prion disease Has definitional manifestation Dementia false Inferred relationship Some
Prion disease Associated morphology Spongy degeneration true Inferred relationship Some 1
Prion disease Finding site Brain tissue structure false Inferred relationship Some 1
Prion disease Associated morphology dégénérescence false Inferred relationship Some 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 Some 2
Prion disease Pathological process (attribute) Infectious process (qualifier value) false Inferred relationship Some
Prion disease Is a Infectious disease false Inferred relationship Some
Prion disease Is a Infective disorder of head false Inferred relationship Some
Prion disease Causative agent (attribute) Prion false Inferred relationship Some 3
Prion disease Associated morphology Spongy degeneration false Inferred relationship Some 3
Prion disease Finding site Brain tissue structure false Inferred relationship Some 3
Prion disease Pathological process (attribute) Infectious process (qualifier value) false Inferred relationship Some 3
Prion disease Is a Degenerative brain disorder true Inferred relationship Some
Prion disease Finding site Brain structure true Inferred relationship Some 1
Prion disease Pathological process (attribute) Infectious process (qualifier value) true Inferred relationship Some 1
Prion disease Causative agent (attribute) Prion true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Spongiform encephalopathy Is a True Prion disease Inferred relationship Some
Chronic wasting disease of captive mule deer AND/OR elk Is a False Prion disease Inferred relationship Some
Bovine spongiform encephalopathy Is a False Prion disease Inferred relationship Some
Gerstmann-Straussler-Scheinker syndrome Is a True Prion disease Inferred relationship Some
Transmissible mink encephalopathy Is a False Prion disease Inferred relationship Some
Creutzfeldt-Jakob disease Is a True Prion disease Inferred relationship Some
Fatal familial insomnia Is a True Prion disease Inferred relationship Some
Kuru Is a False Prion disease Inferred relationship Some
Progressive subcortical gliosis Is a True Prion disease Inferred relationship Some
Cerebral degeneration due to Creutzfeldt-Jakob disease Is a False Prion disease Inferred relationship Some
[X]Dementia in Creutzfeldt-Jakob disease Is a False Prion disease Inferred relationship Some
Bovine spongiform encephalopathy Is a False Prion disease Inferred relationship Some
maladie à prion associée au SIDA Is a False Prion disease Inferred relationship Some
Variant Creutzfeldt-Jakob disease (disorder) Is a True Prion disease Inferred relationship Some
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. Is a True Prion disease Inferred relationship Some
Variably protease sensitive prionopathy (disorder) Is a True Prion disease Inferred relationship Some
Acquired prion disease (disorder) Is a True Prion disease Inferred relationship Some
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 Some
Dementia due to prion disease Due to True Prion disease Inferred relationship Some 2
Tic disorder due to prion disease Due to True Prion disease Inferred relationship Some 2
Parkinsonism due to prion disease (disorder) Due to True Prion disease Inferred relationship Some 2
Disorder of autonomic nervous system due to prion disease (disorder) Due to True Prion disease Inferred relationship Some 2
Chorea due to prion disease (disorder) Due to True Prion disease Inferred relationship Some 2

This concept is not in any reference sets

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