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719818007: X-linked spinocerebellar ataxia type 4 (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3318021018 X-linked spinocerebellar ataxia type 4 (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3318022013 X-linked spinocerebellar ataxia type 4 en Synonym Active Case sensitive SNOMED CT core
3318023015 X-linked ataxia dementia syndrome en Synonym Active Case sensitive SNOMED CT core
3318024014 Spinocerebellar ataxia, X-linked, type 4 has characteristics of ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked spinocerebellar ataxia type 4 Finding site Spinal cord structure true Inferred relationship Some 1
X-linked spinocerebellar ataxia type 4 Associated morphology Degenerative abnormality true Inferred relationship Some 1
X-linked spinocerebellar ataxia type 4 Associated morphology Degenerative abnormality true Inferred relationship Some 2
X-linked spinocerebellar ataxia type 4 Is a X-linked recessive hereditary disease true Inferred relationship Some
X-linked spinocerebellar ataxia type 4 Is a Hereditary cerebellar degeneration false Inferred relationship Some
X-linked spinocerebellar ataxia type 4 Is a X-linked hereditary disease false Inferred relationship Some
X-linked spinocerebellar ataxia type 4 Is a Spinocerebellar ataxia true Inferred relationship Some
X-linked spinocerebellar ataxia type 4 Associated morphology Degeneration false Inferred relationship Some 2
X-linked spinocerebellar ataxia type 4 Associated morphology Degeneration false Inferred relationship Some 3
X-linked spinocerebellar ataxia type 4 Finding site Cerebellar structure true Inferred relationship Some 2
X-linked spinocerebellar ataxia type 4 Finding site Spinal cord structure false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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