724227000: Infantile onset spinocerebellar ataxia (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of back\Finding of spinal region\Disorder of spinal region\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia

\Finding related to coordination / incoordination\Ataxia\...

\Hereditary ataxia\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia

\Cerebellar ataxia\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia

\Central nervous system finding\Finding of spinal cord\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Central nervous system finding\Finding of brain\Disorder of brain\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Central nervous system finding\Disorder of the central nervous system\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia

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

\Finding of brain\Disorder of brain\...

\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia

\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia

\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia

\Disorder of head\Disorder of brain\...

\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia

\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia

\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile onset spinocerebellar ataxia
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Disease\Disorder of head\Disorder of brain\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Disease\Disorder of head\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia
\Disease\Metabolic disease\Mitochondrial cytopathy\Infantile onset spinocerebellar ataxia
\Disease\Disorder of back\Disorder of spinal region\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Infantile onset spinocerebellar ataxia

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

Descriptions:

Id Description Lang Type Status Case? Module

3432877015 Infantile onset spinocerebellar ataxia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3432878013 Infantile onset spinocerebellar ataxia en Synonym Active Entire term case insensitive SNOMED CT core module

3432879017 Ohaha syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3432880019 Ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile onset spinocerebellar ataxia	Is a	Hereditary cerebellar degeneration	false	Inferred relationship	Existential restriction modifier
Infantile onset spinocerebellar ataxia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Infantile onset spinocerebellar ataxia	Is a	Spinocerebellar ataxia	true	Inferred relationship	Existential restriction modifier
Infantile onset spinocerebellar ataxia	Is a	Mitochondrial cytopathy	true	Inferred relationship	Existential restriction modifier
Infantile onset spinocerebellar ataxia	Associated morphology	Degeneration	false	Inferred relationship	Existential restriction modifier	3
Infantile onset spinocerebellar ataxia	Occurrence	Infancy	false	Inferred relationship	Existential restriction modifier	3
Infantile onset spinocerebellar ataxia	Finding site	Cerebellar structure	false	Inferred relationship	Existential restriction modifier	3
Infantile onset spinocerebellar ataxia	Associated morphology	Degeneration	false	Inferred relationship	Existential restriction modifier	4
Infantile onset spinocerebellar ataxia	Occurrence	Infancy	false	Inferred relationship	Existential restriction modifier	4
Infantile onset spinocerebellar ataxia	Finding site	Spinal cord structure	false	Inferred relationship	Existential restriction modifier	4
Infantile onset spinocerebellar ataxia	Occurrence	Infancy	true	Inferred relationship	Existential restriction modifier	1
Infantile onset spinocerebellar ataxia	Occurrence	Infancy	true	Inferred relationship	Existential restriction modifier	2
Infantile onset spinocerebellar ataxia	Associated morphology	Degenerative abnormality	true	Inferred relationship	Existential restriction modifier	2
Infantile onset spinocerebellar ataxia	Associated morphology	Degenerative abnormality	true	Inferred relationship	Existential restriction modifier	1
Infantile onset spinocerebellar ataxia	Finding site	Spinal cord structure	true	Inferred relationship	Existential restriction modifier	2
Infantile onset spinocerebellar ataxia	Finding site	Cerebellar structure	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets