1204415006: Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome

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

\Hereditary ataxia\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome

\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome

\Central nervous system finding\Finding of spinal cord\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Central nervous system finding\Disorder of the central nervous system\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome

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

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

\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome

\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome

\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome

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

\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome

\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome

\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Ear and auditory finding\Hearing finding\Decreased hearing\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome

\Disorder of vision\Visual disturbance\Blindness AND/OR vision impairment level\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome

\Functional finding\Decline in functional status\Decreased hearing\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Functional finding\Hearing finding\Decreased hearing\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of vision\Visual disturbance\Blindness AND/OR vision impairment level\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\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\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Disorder of head\Disorder of brain\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Disorder of head\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
\Disease\Disorder of back\Disorder of spinal region\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Mar 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4955438013 SCAR3 - spinocerebellar ataxia autosomal recessive type 3 en Synonym Active Entire term case sensitive SNOMED CT core module

4955439017 Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4955440015 Autosomal recessive spinocerebellar ataxia type 3 en Synonym Active Entire term case insensitive SNOMED CT core module

4955441016 Autosomal recessive spinocerebellar ataxia, blindness, hearing loss syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

4955442011 Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome	Is a	Decreased hearing	true	Inferred relationship	Existential restriction modifier
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome	Is a	Blindness AND/OR vision impairment level	true	Inferred relationship	Existential restriction modifier
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome	Is a	Spinocerebellar ataxia	true	Inferred relationship	Existential restriction modifier
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome	Finding site	Structure of visual system	true	Inferred relationship	Existential restriction modifier	4
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	5
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	3
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	3
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome	Finding site	Spinal cord structure	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4955438013	SCAR3 - spinocerebellar ataxia autosomal recessive type 3	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4955439017	Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4955440015	Autosomal recessive spinocerebellar ataxia type 3	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4955441016	Autosomal recessive spinocerebellar ataxia, blindness, hearing loss syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4955442011	Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module