723441001: Non-progressive cerebellar ataxia with intellectual disability (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Non-progressive cerebellar ataxia with intellectual disability (disorder)

\Finding related to coordination / incoordination (finding)\Ataxia\...

\Hereditary ataxia (disorder)\Non-progressive cerebellar ataxia with intellectual disability (disorder)

\Cerebellar ataxia\Non-progressive cerebellar ataxia with intellectual disability (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Non-progressive cerebellar ataxia with intellectual disability (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Non-progressive cerebellar ataxia with intellectual disability (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Non-progressive cerebellar ataxia with intellectual disability (disorder)

\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Non-progressive cerebellar ataxia with intellectual disability (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Non-progressive cerebellar ataxia with intellectual disability (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Non-progressive cerebellar ataxia with intellectual disability (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Non-progressive cerebellar ataxia with intellectual disability (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Non-progressive cerebellar ataxia with intellectual disability (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Non-progressive cerebellar ataxia with intellectual disability (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Non-progressive cerebellar ataxia with intellectual disability (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Non-progressive cerebellar ataxia with intellectual disability (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Non-progressive cerebellar ataxia with intellectual disability (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Non-progressive cerebellar ataxia with intellectual disability (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Non-progressive cerebellar ataxia with intellectual disability (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Non-progressive cerebellar ataxia with intellectual disability (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Non-progressive cerebellar ataxia with intellectual disability (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3424625017 Non-progressive cerebellar ataxia with intellectual disability (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3424626016 Non-progressive cerebellar ataxia with intellectual disability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3424627013 Disease with characteristics of the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and in later life intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin). Caused by heterozygous disruption of the CAMTA1 gene on chromosome 1p36. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

1017241000172118 ataxie cérébelleuse non progressive avec déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

1011901000172119 niet-progressieve cerebellaire ataxie met intellectuele achterstand nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Non-progressive cerebellar ataxia with intellectual disability (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Non-progressive cerebellar ataxia with intellectual disability (disorder)	Is a	Cerebellar ataxia	true	Inferred relationship	Some
Non-progressive cerebellar ataxia with intellectual disability (disorder)	Is a	retard mental	false	Inferred relationship	Some
Non-progressive cerebellar ataxia with intellectual disability (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Non-progressive cerebellar ataxia with intellectual disability (disorder)	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Non-progressive cerebellar ataxia with intellectual disability (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Non-progressive cerebellar ataxia with intellectual disability (disorder)	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Some
Non-progressive cerebellar ataxia with intellectual disability (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Non-progressive cerebellar ataxia with intellectual disability (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Non-progressive cerebellar ataxia with intellectual disability (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Non-progressive cerebellar ataxia with intellectual disability (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Non-progressive cerebellar ataxia with intellectual disability (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Non-progressive cerebellar ataxia with intellectual disability (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3424625017	Non-progressive cerebellar ataxia with intellectual disability (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424626016	Non-progressive cerebellar ataxia with intellectual disability	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424627013	Disease with characteristics of the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and in later life intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin). Caused by heterozygous disruption of the CAMTA1 gene on chromosome 1p36.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1017241000172118	ataxie cérébelleuse non progressive avec déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1011901000172119	niet-progressieve cerebellaire ataxie met intellectuele achterstand	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)