91502009: Spinocerebellar disease (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
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease
\Finding of back (finding)\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease

\Central nervous system finding\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease

\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
\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
\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
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease
\Disease\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

151586018 Spinocerebellar disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

834831014 Spinocerebellar disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2579741000005110 Spinocerebellar sygdom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spinocerebellar disease	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
Spinocerebellar disease	Is a	System disorder of the nervous system (disorder)	false	Inferred relationship	Some
Spinocerebellar disease	Is a	Degenerative disease of the central nervous system	false	Inferred relationship	Some
Spinocerebellar disease	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Spinocerebellar disease	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	2
Spinocerebellar disease	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Spinocerebellar disease	Is a	Cerebellar disorder	true	Inferred relationship	Some
Spinocerebellar disease	Is a	Encephalomyelopathy (disorder)	true	Inferred relationship	Some
Spinocerebellar disease	Finding site	Spinal cord structure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Friedreich ataxia	Is a	True	Spinocerebellar disease	Inferred relationship	Some
Cerebellar disorder	Is a	False	Spinocerebellar disease	Inferred relationship	Some
Cerebellar deficiency syndrome	Is a	False	Spinocerebellar disease	Inferred relationship	Some
Sporadic cerebellar degeneration	Is a	False	Spinocerebellar disease	Inferred relationship	Some
Hereditary amblyopia with quadriplegia in the Irish Setter	Is a	False	Spinocerebellar disease	Inferred relationship	Some
Hereditary spastic paraplegia	Is a	False	Spinocerebellar disease	Inferred relationship	Some
Corticostriatal-spinal degeneration	Is a	True	Spinocerebellar disease	Inferred relationship	Some
Roussy-Lévy syndrome	Is a	False	Spinocerebellar disease	Inferred relationship	Some
Jervis' syndrome	Is a	True	Spinocerebellar disease	Inferred relationship	Some
Athetosis with spastic paraplegia	Is a	True	Spinocerebellar disease	Inferred relationship	Some
Bailey-Cushing syndrome	Is a	True	Spinocerebellar disease	Inferred relationship	Some
Paramyoclonus multiplex	Is a	True	Spinocerebellar disease	Inferred relationship	Some
Ataxia-telangiectasia syndrome	Is a	True	Spinocerebellar disease	Inferred relationship	Some
Primary progressive cerebellar degeneration	Is a	False	Spinocerebellar disease	Inferred relationship	Some
Posthemiplegic ataxia	Is a	True	Spinocerebellar disease	Inferred relationship	Some
Cerebellar degeneration	Is a	False	Spinocerebellar disease	Inferred relationship	Some
Cerebellar ataxia associated with another disorder (disorder)	Is a	False	Spinocerebellar disease	Inferred relationship	Some
Primær cerebellar degeneration, ikke nærmere specificeret	Is a	False	Spinocerebellar disease	Inferred relationship	Some
andre spinocerebellare sygdomme	Is a	False	Spinocerebellar disease	Inferred relationship	Some
spinocerebellar sygdom, ikke nærmere specificeret	Is a	False	Spinocerebellar disease	Inferred relationship	Some
[X]Other hereditary ataxias	Is a	False	Spinocerebellar disease	Inferred relationship	Some
Cerebellar ataksi, ikke nærmere specificeret	Is a	False	Spinocerebellar disease	Inferred relationship	Some
Progressive spinocerebellar ataxia with retained tendon reflexes	Is a	True	Spinocerebellar disease	Inferred relationship	Some
Vestibulocerebellar ataxia	Is a	True	Spinocerebellar disease	Inferred relationship	Some
Nothnagel's syndrome	Is a	True	Spinocerebellar disease	Inferred relationship	Some
Hereditary cerebellar degeneration	Is a	False	Spinocerebellar disease	Inferred relationship	Some
Sanger-Brown cerebellar ataxia	Is a	True	Spinocerebellar disease	Inferred relationship	Some
Spinocerebellar ataxia	Is a	True	Spinocerebellar disease	Inferred relationship	Some
Myoclonic epilepsy myopathy sensory ataxia (disorder)	Is a	True	Spinocerebellar disease	Inferred relationship	Some
A rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986.	Is a	True	Spinocerebellar disease	Inferred relationship	Some
Complicated hereditary spastic paraplegia	Is a	False	Spinocerebellar disease	Inferred relationship	Some
X-linked hereditary spastic paraplegia (disorder)	Is a	False	Spinocerebellar disease	Inferred relationship	Some
A lethal form of pontocerebellar hypoplasia with characteristics of prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported.	Is a	True	Spinocerebellar disease	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
151586018	Spinocerebellar disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
834831014	Spinocerebellar disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2579741000005110	Spinocerebellar sygdom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)