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719249005: ataxie spinocérébelleuse type 17 (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
3315679016 Spinocerebellar ataxia type 17 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315680018 Spinocerebellar ataxia type 17 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315681019 Huntington disease-like 4 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
753821000241119 ataxie spinocérébelleuse type 17 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
877611000172110 ataxie spinocérébelleuse type 17 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
946561000172119 HDL4 - Huntington disease-like 4 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3315682014 Disease with characteristics of a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity and epilepsy. Worldwide prevalence is unknown. Fewer than 100 families have been reported to date. Clinical features overlap with many neurodegenerative syndromes and specifically Huntington disease. Caused by a CAG repeat expansion in the TATA box-binding protein gene TBP (6q27). Prognosis is poor. More than 60% of patients present with dysphagia which frequently results in aspiration and death. Mean disease duration is less than 18 years and a few patients live beyond 60 years of age. 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
Spinocerebellar ataxia type 17 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Spinocerebellar ataxia type 17 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 17 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 17 (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 17 (disorder) est un(e) (attribut) Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 17 (disorder) est un(e) (attribut) ataxie spinocérébelleuse dominante true Inferred relationship Some
Spinocerebellar ataxia type 17 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 2
Spinocerebellar ataxia type 17 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 3
Spinocerebellar ataxia type 17 (disorder) localisation d'une constatation (attribut) structure cérébelleuse true Inferred relationship Some 2
Spinocerebellar ataxia type 17 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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