1119357005: Spastic ataxia (finding)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding related to coordination / incoordination (finding)\Ataxia\Spastic ataxia (finding)

\General finding of soft tissue\Spasticity\Spastic ataxia (finding)

\Muscle finding\Finding of muscle tone (finding)\Increased muscle tone\Spasticity\Spastic ataxia (finding)

\Musculoskeletal finding\Spasticity\Spastic 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

4361720012 Spastic ataxia (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4361721011 Spastic ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spastic ataxia (finding)	Is a	Ataxia	true	Inferred relationship	Some
Spastic ataxia (finding)	Is a	Spasticity	true	Inferred relationship	Some
Spastic ataxia (finding)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Spastic ataxia (finding)	Interprets	Muscle tone (observable entity)	true	Inferred relationship	Some	1
Spastic ataxia (finding)	Has interpretation	Increased	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare neurometabolic disease characterised by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinaemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32.	Is a	True	Spastic ataxia (finding)	Inferred relationship	Some

Reference Sets