Code System Concept

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Code System Concept

Code System Concept Code	763348005
Code System Concept Name	Autosomal recessive cerebellar ataxia with late-onset spasticity (disorder)
Code System Preferred Concept Name	Autosomal recessive cerebellar ataxia with late-onset spasticity (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	07/31/2018
SDO Date Created	07/31/2018
SDO Date Revised	07/31/2018
Description	A rare genetic neurodegenerative disease with childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliosis and abnormalities of the brain (e.g. cerebral atrophy) may also be associated.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3638642017	Autosomal recessive cerebellar ataxia due to GBA2 (glucosylceramidase beta 2) deficiency	Active	Synonym	false	false
3638643010	Autosomal recessive cerebellar ataxia with late-onset spasticity	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	1
Disease	10 , 9 , 8
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Cerebellar ataxia (disorder) {85102008 , SNOMED-CT } Hereditary ataxia (disorder) {763597000 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Inherited metabolic disorder of nervous system (disorder) {128190004 , SNOMED-CT } Sphingolipidosis (disorder) {238028008 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,