719253007: Spinocerebellar ataxia type 30 (disorder)

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

\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Finding of back (finding)\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.

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

\Hereditary ataxia (disorder)\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.

\Cerebellar ataxia\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.

\Central nervous system finding\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary cerebellar degeneration\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary cerebellar degeneration\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary cerebellar degeneration\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary cerebellar degeneration\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary cerebellar degeneration\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\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\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary cerebellar degeneration\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
\Disease\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.

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

Descriptions:

Id Description Lang Type Status Case? Module

5402025014 An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402026010 An autosomal dominant cerebellar ataxia type III that is characterised by a slowly progressive and relatively pure ataxia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3315692018 Spinocerebellar ataxia type 30 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3315693011 Spinocerebellar ataxia type 30 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.	Is a	Hereditary cerebellar degeneration	false	Inferred relationship	Some
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.	Is a	Spinocerebellar ataxia	true	Inferred relationship	Some
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.	Associated morphology	Degeneration	false	Inferred relationship	Some	2
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.	Associated morphology	Degeneration	false	Inferred relationship	Some	3
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.	Finding site	Cerebellar structure	true	Inferred relationship	Some	2
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.	Finding site	Spinal cord structure	false	Inferred relationship	Some	3
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	2
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.	Finding site	Spinal cord structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
5402025014	An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402026010	An autosomal dominant cerebellar ataxia type III that is characterised by a slowly progressive and relatively pure ataxia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315692018	Spinocerebellar ataxia type 30 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315693011	Spinocerebellar ataxia type 30	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core