37650008: Hereditary cerebellar degeneration (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration
\Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration

\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration
\Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration
\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\Hereditary cerebellar degeneration
\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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration
\Disease\Disorder of body system\Disease 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\Hereditary cerebellar degeneration
\Disease\Disorder of body system\Disease 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
\Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration
\Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary cerebellar degeneration	Is a	Primary cerebellar degeneration	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary cerebellar degeneration	Is a	Hereditary disorder of nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary cerebellar degeneration	Associated morphology	Primary degeneration	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary cerebellar degeneration	Finding site	Cerebellar structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary cerebellar degeneration	Is a	Spinocerebellar disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary cerebellar degeneration	Finding site	Cerebellar structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary cerebellar degeneration	Associated morphology	Primary degeneration	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary cerebellar degeneration	Is a	Cerebellar disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary cerebellar degeneration	Is a	Degenerative brain disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary cerebellar degeneration	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary cerebellar degeneration	Finding site	Cerebellar structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary cerebellar degeneration	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary cerebellar degeneration	Is a	Cerebellar degeneration	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary cerebellar degeneration	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary cerebellar degeneration	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary spastic paraplegia	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Episodic ataxia	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonic epilepsy myopathy sensory ataxia (disorder)	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Huntington disease-like syndrome	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 36 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 7 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterised by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterised by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 6 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 8 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 10 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia characterized by ataxia with sensory neuropathy.	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Richards-Rundle syndrome (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy.	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 28 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 29 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
An autosomal dominant cerebellar ataxia type III that is characterized by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar ataxia, tremor and cognitive impairment.	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 26	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 25 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation.	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 23 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 11 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 12 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 13 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 14	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 17 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 18	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 19 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 27	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 32 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 35 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 37 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 5	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked sideroblastic anaemia with spinocerebellar ataxia	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked spinocerebellar ataxia type 3	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked spinocerebellar ataxia type 4	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Corneal cerebellar syndrome	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile onset spinocerebellar ataxia (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia dysmorphism syndrome	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 40 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 38 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Complicated hereditary spastic paraplegia (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked hereditary spastic paraplegia (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia (disorder)	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile cerebellar and retinal degeneration (disorder)	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome (disorder)	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 29 (disorder)	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive cerebello-cerebral atrophy (disorder)	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome (disorder)	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)
Friedreich ataxia (disorder)	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
62802011	Hereditary cerebellar degeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
769541014	Hereditary cerebellar degeneration (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
62802011	Hereditary cerebellar degeneration	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
62802011	Hereditary cerebellar degeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
769541014	Hereditary cerebellar degeneration (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
769541014	Hereditary cerebellar degeneration (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4512641000241116	dégénérescence cérébelleuse héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4512641000241116	dégénérescence cérébelleuse héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module