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721219005: 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
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
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 Entire term case sensitive (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
3449631001000114 Alzheimer-ähnliche familiäre Prionkrankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
889841000172114 maladie à prions familiale Alzheimer-like fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
945251000172111 maladie à prions familiale type Alzheimer fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
889841000172114 maladie à prions familiale Alzheimer-like fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
945251000172111 maladie à prions familiale type Alzheimer fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3449631001000114 Alzheimer-ähnliche familiäre Prionkrankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

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 Existential restriction modifier (core metadata concept)
Familial Alzheimer-like prion disease (disorder) Is a Prion disease true Inferred relationship Existential restriction modifier (core metadata concept)
Familial Alzheimer-like prion disease (disorder) Is a Familial disease true Inferred relationship Existential restriction modifier (core metadata concept)
Familial Alzheimer-like prion disease (disorder) Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Familial Alzheimer-like prion disease (disorder) Associated morphology Spongy degeneration (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial Alzheimer-like prion disease (disorder) Causative agent (attribute) Prion true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial Alzheimer-like prion disease (disorder) Finding site Brain tissue structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial Alzheimer-like prion disease (disorder) Pathological process (attribute) Infectious process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial Alzheimer-like prion disease (disorder) Is a Hereditary degenerative disease of central nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Familial Alzheimer-like prion disease (disorder) Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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