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719250005: ataxie spinocérébelleuse type 18 (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
1009331000172113 ataxie spinocérébelleuse type 18 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3315683016 Spinocerebellar ataxia type 18 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315684010 Spinocerebellar ataxia type 18 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
753831000241117 ataxie spinocérébelleuse type 18 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
898771000172119 SCA18 - spinocerebellar ataxia type 18 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3315685011 Disease with characteristics of sensory neuropathy and cerebellar ataxia. Prevalence is unknown. Only 26 cases in a 5-generation American family of Irish ancestry have been reported to date. Onset is in the second and third decades of life with symptomatic onset ranging from 13 to 27 years. Patients initially present with axonal sensory neuropathy, while cerebellar ataxia and motor neuron dysfunction develop later. Linked to chromosome 7q22-q23 but the responsible gene mutation has not yet been identified. 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
ataxie spinocérébelleuse type 18 morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
ataxie spinocérébelleuse type 18 morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 2
ataxie spinocérébelleuse type 18 localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
ataxie spinocérébelleuse type 18 est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
ataxie spinocérébelleuse type 18 est un(e) (attribut) Hereditary cerebellar degeneration false Inferred relationship Some
ataxie spinocérébelleuse type 18 est un(e) (attribut) ataxie spinocérébelleuse dominante true Inferred relationship Some
ataxie spinocérébelleuse type 18 morphologie associée (attribut) dégénérescence false Inferred relationship Some 2
ataxie spinocérébelleuse type 18 morphologie associée (attribut) dégénérescence false Inferred relationship Some 3
ataxie spinocérébelleuse type 18 localisation d'une constatation (attribut) structure cérébelleuse true Inferred relationship Some 2
ataxie spinocérébelleuse type 18 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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