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719249005: Spinocerebellar ataxia type 17 (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
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
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
3915841000052115 spinocerebellär ataxi, typ 17 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spinocerebellar ataxia type 17 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 17 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 17 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 17 (disorder) Associated morphology degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 17 (disorder) Associated morphology degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 17 (disorder) Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 17 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
Spinocerebellar ataxia type 17 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 17 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Some 1
Spinocerebellar ataxia type 17 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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