230782004: Dysequilibrium syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar ataxia\Dysequilibrium syndrome

\Finding related to coordination / incoordination (finding)\Ataxia\Cerebellar ataxia\Dysequilibrium syndrome

\Central nervous system finding (finding)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar ataxia\Dysequilibrium syndrome

\Functional finding\Impaired cognition (finding)\Intellectual disability\Dysequilibrium syndrome
\Functional finding\Intelligence finding\Intellectual disability\Dysequilibrium syndrome

\Disease\Genetic disease\Hereditary disease\Autosomal recessive hereditary disorder (disorder)\Dysequilibrium syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Dysequilibrium syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar ataxia\Dysequilibrium syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar ataxia\Dysequilibrium syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Dysequilibrium syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

345782015 Dysequilibrium syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

618636016 Dysequilibrium syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

5310018018 Disequilibrium syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

5310019014 DES - dysequilibrium syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

5310021016 Non-progressive cerebellar ataxia, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

5310022011 Uner Tan syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

5310023018 Cerebellar ataxia, intellectual disability, dysequilibrium syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

5310024012 CAMRQ syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

5310025013 A congenital disorder characterized 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. Etiological 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. en Definition Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

5310026014 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. en Definition Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysequilibrium syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Dysequilibrium syndrome	Is a	Congenital disease	true	Inferred relationship	Some
Dysequilibrium syndrome	Is a	Cerebellar ataxia	true	Inferred relationship	Some
Dysequilibrium syndrome	Is a	Autosomal recessive hereditary disorder (disorder)	true	Inferred relationship	Some
Dysequilibrium syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Dysequilibrium syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Dysequilibrium syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
Dysequilibrium syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	2
Dysequilibrium syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Dysequilibrium syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Dysequilibrium syndrome	Clinical course	Non-progressive	true	Inferred relationship	Some	4
Dysequilibrium syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

International Patient Summary

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
345782015	Dysequilibrium syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
618636016	Dysequilibrium syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
5310018018	Disequilibrium syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
5310019014	DES - dysequilibrium syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	IPS terminology module (core metadata concept)
5310021016	Non-progressive cerebellar ataxia, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
5310022011	Uner Tan syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	IPS terminology module (core metadata concept)
5310023018	Cerebellar ataxia, intellectual disability, dysequilibrium syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
5310024012	CAMRQ syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	IPS terminology module (core metadata concept)
5310025013	A congenital disorder characterized 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. Etiological 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	IPS terminology module (core metadata concept)
5310026014	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	IPS terminology module (core metadata concept)