37650008: Hereditary cerebellar degeneration (disorder)

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

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

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

\Finding of brain\Disorder of brain (disorder)\...

\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration

\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration

\Disorder of head (disorder)\Disorder of brain (disorder)\...

\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\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration
\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
\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
\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\Hereditary cerebellar degeneration
\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
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\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:

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
251691000052110 ärftlig cerebellär degeneration sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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	Associated morphology	primär degeneration	false	Inferred relationship	Some	1
Hereditary cerebellar degeneration	Finding site	Cerebellar structure	false	Inferred relationship	Some	1
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	primär 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	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Hereditary cerebellar degeneration	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary spastic paraplegia	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Episodic ataxia (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Myoclonic epilepsy myopathy sensory ataxia (disorder)	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 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 7 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 1 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 2 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 6 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 8 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 10 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 4 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Richards-Rundle syndrome (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Autosomal recessive cerebelloparenchymal disorder type 3 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 28 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 29 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 31 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 15/16 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 26 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 25 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 20 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 23 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 21 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 11 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 12 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 13 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 14 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 17 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 18 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 19 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 27 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 30 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 32 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 34 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 35 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 37 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 5 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
X-linked sideroblastic anemia with spinocerebellar ataxia	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
X-linked spinocerebellar ataxia type 3 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
X-linked spinocerebellar ataxia type 4 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Some
Infantile onset spinocerebellar ataxia (disorder)	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 (disorder)	Is a	False	Hereditary cerebellar degeneration	Inferred relationship	Some
Spinocerebellar ataxia type 38 (disorder)	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 (disorder)	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 WW domain containing oxidoreductase deficiency (disorder)	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Some
Infantile cerebellar and retinal degeneration (disorder)	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Some
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)	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 (disorder)	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 (disorder)	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 CWF19 like cell cycle control factor 1 deficiency (disorder)	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Some
Friedreich ataxia	Is a	True	Hereditary cerebellar degeneration	Inferred relationship	Some

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
251691000052110	ärftlig cerebellär degeneration	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)