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718770005: ataxie spinocérébelleuse type 25 (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
3313798011 Spinocerebellar ataxia type 25 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313799015 Spinocerebellar ataxia type 25 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
752621000241114 ataxie spinocérébelleuse type 25 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
950251000172119 SCA25 - spinocerebellar ataxia type 25 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
969461000172117 ataxie spinocérébelleuse type 25 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3313800016 A very rare subtype of type I autosomal dominant cerebellar ataxia with characteristics of cerebellar ataxia and prominent sensory neuropathy. Fewer than 10 cases in a 4-generation French family have been reported to date. Age of onset ranges from 1 to 39 years. The clinical features vary widely from sensory neuropathy with little cerebellar ataxia to cerebellar ataxia with little sensory neuropathy. Some patients exhibit gastrointestinal disorders such as vomiting and abdominal pain as initial symptoms. Scoliosis and urinary problems are also observed. Maps to chromosome 2p15-p21. 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 25 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Spinocerebellar ataxia type 25 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 25 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 25 (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 25 (disorder) est un(e) (attribut) Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 25 (disorder) est un(e) (attribut) ataxie spinocérébelleuse dominante true Inferred relationship Some
Spinocerebellar ataxia type 25 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 2
Spinocerebellar ataxia type 25 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 3
Spinocerebellar ataxia type 25 (disorder) localisation d'une constatation (attribut) structure cérébelleuse true Inferred relationship Some 2
Spinocerebellar ataxia type 25 (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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