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719300001: Spinocerebellar ataxia type 35 (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
3315904011 Spinocerebellar ataxia type 35 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315911010 Spinocerebellar ataxia type 35 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315912015 Disease with characteristics of adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis. Reported in less than 20 cases from 3 Chinese families to date. No cognitive impairment is noted. Patients are usually wheelchair bound 10 years after the onset of symptoms. Caused by a mutation in the TGM6 gene (20p13) encoding transglutaminase 6 (TG6), a member of the transglutaminase family of enzymes. TG6 is expressed in the kidney, skin, eyes and neurons but the exact process that leads to this disease is unknown. Inherited autosomal dominantly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
925391000172113 SCA35 - spinocerebellar ataxia type 35 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
925901000172117 ataxie spinocérébelleuse type 35 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
934171000172113 SCA35 - spinocerebellaire ataxie type 35 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
945001000172116 spinocerebellaire ataxie type 35 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spinocerebellar ataxia type 35 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 35 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 35 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 35 (disorder) Associated morphology Degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 35 (disorder) Associated morphology Degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 35 (disorder) Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 35 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
Spinocerebellar ataxia type 35 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 35 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 35 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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