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1119357005: 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

1 descendants. Search Descendants:

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 true Inferred relationship Some 1
Spastic ataxia (finding) Has interpretation Increased true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia 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. Is a True Spastic ataxia (finding) Inferred relationship Some

This concept is not in any reference sets

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