250067008: Truncal ataxia (finding)

SNOMED CT Concept\Clinical finding (finding)\Finding related to coordination / incoordination (finding)\Ataxia\Truncal ataxia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

372988011 Truncal ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

640569018 Truncal ataxia (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6952021000241111 ataxie tronculaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Truncal ataxia	Is a	Ataxia	true	Inferred relationship	Some
Truncal ataxia	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
Truncal ataxia	Interprets	Nervous system function	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare, genetic, syndromic intellectual disability disease characterized by global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (e.g. exophoria, anisometropia, amblyopia) have been reported.	Is a	True	Truncal ataxia	Inferred relationship	Some
A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.	Is a	False	Truncal ataxia	Inferred relationship	Some
Progressive truncal ataxia	Is a	True	Truncal ataxia	Inferred relationship	Some

This concept is not in any reference sets