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721219005: maladie à prions familiale type Alzheimer (trouble)


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
757061000241111 maladie à prions familiale type Alzheimer (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
889841000172114 maladie à prions familiale Alzheimer-like fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
945251000172111 maladie à prions familiale type Alzheimer fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial Alzheimer-like prion disease (disorder) est un(e) (attribut) Hereditary degenerative disease of central nervous system true Inferred relationship Some
Familial Alzheimer-like prion disease (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Familial Alzheimer-like prion disease (disorder) est un(e) (attribut) maladie à prion true Inferred relationship Some
Familial Alzheimer-like prion disease (disorder) est un(e) (attribut) Familial disease true Inferred relationship Some
Familial Alzheimer-like prion disease (disorder) est un(e) (attribut) Hereditary disorder of nervous system false Inferred relationship Some
Familial Alzheimer-like prion disease (disorder) morphologie associée (attribut) 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) localisation d'une constatation (attribut) structure du tissu encéphalique true Inferred relationship Some 1
Familial Alzheimer-like prion disease (disorder) Pathological process (attribute) Infectious process (qualifier value) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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