Code System Concept

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Code System Concept

Code System Concept Code	230782004
Code System Concept Name	Dysequilibrium syndrome (disorder)
Code System Preferred Concept Name	Dysequilibrium 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Superseded By Concept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	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description	A congenital disorder characterised by nonprogressive cerebellar ataxia, associated with a moderate to profound intellectual disability and delayed ambulation. Gait can be either bipedal or quadrupedal. Additional features include hypotonia, lack of coordination, delayed motor development, seizures, dysarthria, strabismus, short stature, and pes planus. Aetiological subtypes have been reported and include type 1 (CAMRQ1), 2 (CAMRQ2), 3 (CAMRQ3) and 4 (CAMRQ4) which are attributed to mutations in VLDLR (9p24), CA8 (8q12.1), WDR81 (17p13.3) and ATP8A2 (13q12) genes, respectively. Transmission is autosomal recessive.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
2920621010	Disequilibrium	Active	Synonym	false	false
2966637012	Dysequilibrium	Active	Synonym	false	false
345782015	Dysequilibrium syndrome	Active	Synonym	false	false
345783013	DES - Dysequilibrium syndrome	Active	Synonym	false	false
5310018018	Disequilibrium syndrome	Active	Synonym	false	false
5310019014	DES - dysequilibrium syndrome	Active	Synonym	false	false
5310021016	Non-progressive cerebellar ataxia, intellectual disability syndrome	Active	Synonym	false	false
5310022011	Uner Tan syndrome	Active	Synonym	false	false
5310023018	Cerebellar ataxia, intellectual disability, dysequilibrium syndrome	Active	Synonym	false	false
5310024012	CAMRQ syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2 , 1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Cerebellar ataxia (disorder) {85102008 , SNOMED-CT } Congenital non-progressive ataxia (disorder) {278509004 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Disorder of brain (disorder) {81308009 , SNOMED-CT } Hereditary ataxia (disorder) {763597000 , SNOMED-CT } Intellectual disability (disorder) {110359009 , 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,