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719818007: X-linked spinocerebellar ataxia type 4 (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
3318021018 X-linked spinocerebellar ataxia type 4 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318022013 X-linked spinocerebellar ataxia type 4 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318023015 X-linked ataxia dementia syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402229014 A rare X-linked spinocerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia. 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402230016 A rare X-linked spinocerebellar ataxia characterised by ataxia, pyramidal tract signs and adult-onset dementia. 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. 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
X-linked spinocerebellar ataxia type 4 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
X-linked spinocerebellar ataxia type 4 (disorder) Is a X-linked hereditary disease false Inferred relationship Some
X-linked spinocerebellar ataxia type 4 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
X-linked spinocerebellar ataxia type 4 (disorder) Associated morphology Degeneration false Inferred relationship Some 2
X-linked spinocerebellar ataxia type 4 (disorder) Associated morphology Degeneration false Inferred relationship Some 3
X-linked spinocerebellar ataxia type 4 (disorder) Finding site Cerebellar structure true Inferred relationship Some 2
X-linked spinocerebellar ataxia type 4 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
X-linked spinocerebellar ataxia type 4 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
X-linked spinocerebellar ataxia type 4 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
X-linked spinocerebellar ataxia type 4 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2
X-linked spinocerebellar ataxia type 4 (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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