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763597000: Hereditary ataxia (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3642973011 Hereditary ataxia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3642974017 Hereditary ataxia en Synonym Active Entire term case insensitive SNOMED CT core module

148 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary ataxia Is a Ataxia true Inferred relationship Existential restriction modifier
Hereditary ataxia Is a Hereditary disease false Inferred relationship Existential restriction modifier
Hereditary ataxia Is a Hereditary disorder of nervous system true Inferred relationship Existential restriction modifier
Hereditary ataxia Finding site Structure of nervous system true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Dentatorubropallidoluysian degeneration Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Spinocerebellar ataxia Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Episodic ataxia Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Fragile X associated tremor ataxia syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a False Hereditary ataxia Inferred relationship Existential restriction modifier
Autosomal recessive spastic ataxia of Charlevoix-Saguenay Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Cerebellar ataxia co-occurrent with ectodermal dysplasia Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Spastic paraplegia type 7 Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Cerebellar ataxia Cayman type Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
X-linked intellectual disability with ataxia and apraxia syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Congenital cataract with ataxia and deafness syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Ataxia with deafness and intellectual disability syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Non-progressive cerebellar ataxia with intellectual disability Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Autosomal recessive posterior column ataxia and retinitis pigmentosa Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Ataxia co-occurrent and due to cerebrotendinous xanthomatosis Is a False Hereditary ataxia Inferred relationship Existential restriction modifier
Ataxia co-occurrent and due to phytanic acid storage disease Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Ataxia co-occurrent and due to abetalipoproteinemia Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Autosomal recessive ataxia due to ubiquinone deficiency Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia Beauce type Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Myoclonus, cerebellar ataxia, deafness syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia with late-onset spasticity Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Spectrin-associated autosomal recessive cerebellar ataxia Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Spastic ataxia with congenital miosis Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
X-linked non progressive cerebellar ataxia Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Ataxia pancytopenia syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Leukoencephalopathy with mild cerebellar ataxia and white matter edema Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Childhood-onset spasticity with hyperglycinemia Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Ataxia, photosensitivity, short stature syndrome Is a False Hereditary ataxia Inferred relationship Existential restriction modifier
Gemignani syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Recessive mitochondrial ataxia syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Ataxia with tapetoretinal degeneration syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Autosomal recessive spastic ataxia with leukoencephalopathy Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Autosomal dominant spastic ataxia type 1 Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Infantile-onset autosomal recessive non progressive cerebellar ataxia Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Fatal X-linked ataxia with deafness and loss of vision Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Saldino-Mainzer dysplasia Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Marinesco-Sjögren syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
X-linked progressive cerebellar ataxia Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Neuropathy in association with hereditary ataxia Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Vanishing white matter disease Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Progressive cerebellar ataxia with hypogonadism Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Autosomal dominant cerebellar ataxia type 2 Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
X-linked intellectual developmental disorder Christianson type Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
X-linked neurodegenerative syndrome Bertini type Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Neuhauser Eichner Opitz syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Odontoleukodystrophy Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Cerebellar ataxia with oculomotor apraxia type 4 Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Spastic ataxia, dysarthria due to glutaminase deficiency Is a True Hereditary ataxia Inferred relationship Existential restriction modifier
Chorea due to hereditary ataxia Due to True Hereditary ataxia Inferred relationship Existential restriction modifier 2
Infantile multisystem neurologic, endocrine, pancreatic disease Is a True Hereditary ataxia Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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