Code System Concept

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Code System Concept

Code System Concept Code	1204415006
Code System Concept Name	Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
Code System Preferred Concept Name	Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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Superseded By Concept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	09/01/2022
SDO Date Created	03/31/2022
SDO Date Revised	03/31/2022
Description	A rare autosomal recessive syndromic cerebellar ataxia with the association of early-onset cerebellar ataxia, hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4955438013	SCAR3 - spinocerebellar ataxia autosomal recessive type 3	Active	Synonym	false	false
4955440015	Autosomal recessive spinocerebellar ataxia type 3	Active	Synonym	false	false
4955441016	Autosomal recessive spinocerebellar ataxia, blindness, hearing loss syndrome	Active	Synonym	false	false
4955442011	Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Auditory system hereditary disorder (disorder) {362991006 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Blindness AND/OR vision impairment level (disorder) {105597003 , SNOMED-CT } Decreased hearing (finding) {103276001 , SNOMED-CT } Hearing loss associated with syndrome (disorder) {232333009 , SNOMED-CT } Hereditary disorder of the visual system (disorder) {363343008 , SNOMED-CT } Spinocerebellar ataxia (disorder) {129609000 , 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,