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1119354003: Non-progressive cerebellar ataxia (finding)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4361714011 Non-progressive cerebellar ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4361715012 Non-progressive cerebellar ataxia (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4361714011 Non-progressive cerebellar ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4361715012 Non-progressive cerebellar ataxia (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Non-progressive cerebellar ataxia Is a Ataxia true Inferred relationship Existential restriction modifier (core metadata concept)
Non-progressive cerebellar ataxia Is a Finding of brain true Inferred relationship Existential restriction modifier (core metadata concept)
Non-progressive cerebellar ataxia Clinical course Non-progressive (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-progressive cerebellar ataxia Finding site Cerebellar structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Dysequilibrium syndrome Is a True Non-progressive cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
X-linked non progressive cerebellar ataxia (disorder) Is a True Non-progressive cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy. Is a True Non-progressive cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Infantile-onset autosomal recessive non progressive cerebellar ataxia Is a True Non-progressive cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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