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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

5 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 Some
Non-progressive cerebellar ataxia Is a Finding of brain true Inferred relationship Some
Non-progressive cerebellar ataxia Clinical course Non-progressive true Inferred relationship Some 1
Non-progressive cerebellar ataxia Finding site Cerebellar structure true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia. Is a True Non-progressive cerebellar ataxia Inferred relationship Some
X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. Is a True Non-progressive cerebellar ataxia Inferred relationship Some
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 Some
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes, and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy. Is a True Non-progressive cerebellar ataxia Inferred relationship Some
A subtype of non-spastic cerebral palsy with loss of muscular coordination with abnormal force and rhythm, and impairment of accuracy; commonly presents with gait and trunk ataxia, poor balance, past pointing, terminal intention tremor, scanning speech, nystagmus and other abnormal eye movements, and hypotonia. Low tone is a prominent feature. Is a True Non-progressive cerebellar ataxia Inferred relationship Some

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