37650008: Hereditary cerebellar degeneration (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

\Finding of brain\Encephalopathy\...

\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration

\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration

\Disorder of head\Encephalopathy\...

\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration

\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration

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

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

62802011 Hereditary cerebellar degeneration en Synonym Active Case insensitive SNOMED CT core

769541014 Hereditary cerebellar degeneration (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary cerebellar degeneration	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Hereditary cerebellar degeneration	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Hereditary cerebellar degeneration	Is a	Primary cerebellar degeneration	false	Inferred relationship	Some
Hereditary cerebellar degeneration	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Hereditary cerebellar degeneration	Is a	Spinocerebellar disease	false	Inferred relationship	Some
Hereditary cerebellar degeneration	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Hereditary cerebellar degeneration	Associated morphology	Primary degeneration	false	Inferred relationship	Some	1
Hereditary cerebellar degeneration	Is a	Cerebellar disorder	false	Inferred relationship	Some
Hereditary cerebellar degeneration	Is a	Degenerative brain disorder	false	Inferred relationship	Some
Hereditary cerebellar degeneration	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Hereditary cerebellar degeneration	Finding site	Cerebellar structure	false	Inferred relationship	Some	1
Hereditary cerebellar degeneration	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Hereditary cerebellar degeneration	Is a	Cerebellar degeneration	true	Inferred relationship	Some
Hereditary cerebellar degeneration	Associated morphology	Primary degeneration	false	Inferred relationship	Some	1
Hereditary cerebellar degeneration	Finding site	Cerebellar structure	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Infantile cerebellar and retinal degeneration	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Some
Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Some
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Some
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Some
Combined oxidative phosphorylation defect type 29	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Some
Progressive cerebello-cerebral atrophy	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Some
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Some
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Some
Hereditary spastic paraplegia	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Episodic ataxia	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Myoclonic epilepsy myopathy sensory ataxia	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Some
Huntington disease-like syndrome	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 36	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 7	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 1	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 2	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 6	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 8	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 10	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 4	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Richards-Rundle syndrome	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Autosomal recessive cerebelloparenchymal disorder type 3	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 28	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 29	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 31	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 15/16	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 26	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 25	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 20	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 23	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 21	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 11	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 12	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 13	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 14	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 17	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 18	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 19	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 27	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 30	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 32	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 34	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 35	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 37	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 5	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
X-linked sideroblastic anaemia with spinocerebellar ataxia	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
X-linked spinocerebellar ataxia type 3	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
X-linked spinocerebellar ataxia type 4	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Corneal cerebellar syndrome	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Some
Infantile onset spinocerebellar ataxia	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia dysmorphism syndrome	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 40	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 38	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Complicated hereditary spastic paraplegia	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
X-linked hereditary spastic paraplegia	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
62802011	Hereditary cerebellar degeneration	en	Synonym	Active	Case insensitive	SNOMED CT core
769541014	Hereditary cerebellar degeneration (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core