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763597000: Hereditary ataxia (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3642973011 Hereditary ataxia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3642974017 Hereditary ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4140201000052115 ärftlig ataxi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

129 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary ataxia (disorder) Is a Ataxia true Inferred relationship Some
Hereditary ataxia (disorder) Is a Hereditary disease false Inferred relationship Some
Hereditary ataxia (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Hereditary ataxia (disorder) Finding site Structure of nervous system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Dentatorubropallidoluysian degeneration Is a True Hereditary ataxia (disorder) Inferred relationship Some
Spinocerebellar ataxia Is a True Hereditary ataxia (disorder) Inferred relationship Some
Episodic ataxia (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Fragile X associated tremor ataxia syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
syndrom med epilepsi, ataxi, sensorineural hörselnedsättning och tubulopati (EAST-syndrom) Is a False Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Spastic paraplegia type 7 (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Cerebellar ataxia Cayman type (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Ataxia with deafness and intellectual disability syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Non-progressive cerebellar ataxia with intellectual disability (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive posterior column ataxia and retinitis pigmentosa (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
ataxi samtidig med och orsakad av cerebrotendinös xantomatos Is a False Hereditary ataxia (disorder) Inferred relationship Some
Ataxia co-occurrent and due to phytanic acid storage disease (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Ataxia co-occurrent and due to abetalipoproteinemia (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive ataxia due to ubiquinone deficiency (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive cerebellar ataxia Beauce type (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive cerebellar ataxia with late-onset spasticity Is a True Hereditary ataxia (disorder) Inferred relationship Some
Spectrin-associated autosomal recessive cerebellar ataxia Is a True Hereditary ataxia (disorder) Inferred relationship Some
Spastic ataxia with congenital miosis Is a True Hereditary ataxia (disorder) Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Some
X-linked non progressive cerebellar ataxia (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Ataxia pancytopenia syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Some
CLCN2-related leukoencephalopathy Is a True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Childhood-onset spasticity with hyperglycinemia (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Ataxia, photosensitivity, short stature syndrome Is a False Hereditary ataxia (disorder) Inferred relationship Some
Gemignani syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Some
Recessive mitochondrial ataxia syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Ataxia with tapetoretinal degeneration syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive spastic ataxia with leukoencephalopathy (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal dominant spastic ataxia type 1 (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Infantile-onset autosomal recessive non progressive cerebellar ataxia Is a True Hereditary ataxia (disorder) Inferred relationship Some
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Arts syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Some
Saldino-Mainzer dysplasia Is a True Hereditary ataxia (disorder) Inferred relationship Some
Marinesco-Sjögren syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
X-linked progressive cerebellar ataxia Is a True Hereditary ataxia (disorder) Inferred relationship Some
Neuropathy in association with hereditary ataxia Is a True Hereditary ataxia (disorder) Inferred relationship Some
Vanishing white matter disease (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Progressive cerebellar ataxia with hypogonadism Is a True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal dominant cerebellar ataxia type 2 Is a True Hereditary ataxia (disorder) Inferred relationship Some
Christianson syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Some
X-linked neurodegenerative syndrome Bertini type (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus Is a True Hereditary ataxia (disorder) Inferred relationship Some

This concept is not in any reference sets

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