Hereditary ataxia

Code	`763597000`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20180731

702441001Arts syndrome disorder

724770001Ataxia co-occurrent and due to abetalipoproteinaemia disorder

724769002Ataxia co-occurrent and due to phytanic acid storage disease disorder

768556005Ataxia pancytopenia syndrome disorder

720517001Ataxia with deafness and intellectual disability syndrome disorder

783203003Ataxia with tapetoretinal degeneration syndrome disorder

1156796002Autosomal dominant cerebellar ataxia type 2 disorder

722293005Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome disorder

784380009Autosomal dominant spastic ataxia type 1 disorder

1375927000Autosomal dominant spastic paraplegia type 79A disorder

725394006Autosomal recessive ataxia due to ubiquinone deficiency disorder

725433003Autosomal recessive cerebellar ataxia Beauce type disorder

1237625002Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency disorder

763348005Autosomal recessive cerebellar ataxia with late-onset spasticity disorder

715366004Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 disorder

725408001Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 disorder

766814006Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome disorder

773498006Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency disorder

770898002Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency disorder

763312008Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome disorder

724065003Autosomal recessive posterior column ataxia and retinitis pigmentosa disorder

702445005Autosomal recessive spastic ataxia of Charlevoix-Saguenay disorder

784343003Autosomal recessive spastic ataxia with leucoencephalopathy disorder

784347002Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome disorder

718221007Behr syndrome disorder

715984007Boucher Neuhäuser syndrome disorder

726031001CAMOS syndrome disorder

768663003CLCN2-related leucoencephalopathy disorder

717332007Cerebellar ataxia Cayman type disorder

715371006Cerebellar ataxia and ectodermal dysplasia disorder

1236804009Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome disorder

1217230002Cerebellar ataxia with oculomotor apraxia type 4 disorder

720634003Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome disorder

763344007Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome disorder

773492007Childhood-onset spasticity with hyperglycinaemia disorder

702354007Christianson syndrome disorder

719102004Congenital cataract with ataxia and deafness syndrome disorder

1177169004Congenital cerebellar ataxia due to RNU12 mutation disorder

68116008Dentatorubropallidoluysian degeneration disorder

230782004Dysequilibrium syndrome disorder

771514002Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome disorder

421455009Episodic ataxia disorder

448045004Fragile X associated tremor ataxia syndrome disorder

10394003Friedreich ataxia disorder

782690007Gemignani syndrome disorder

724283004Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum disorder

1300130001Hypomyelination of early myelinating structures disorder

721846006Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome disorder

1260450002Infantile multisystem neurologic, endocrine, pancreatic disease disorder

785300001Infantile-onset autosomal recessive non progressive cerebellar ataxia disorder

782753000Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome disorder

787174003Intellectual disability, hyperkinetic movement, truncal ataxia syndrome disorder

764095005Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome disorder

80734006Marinesco-Sjögren syndrome disorder

1237514002Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome disorder

237611007Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus disorder

733065003Myoclonus, cerebellar ataxia, deafness syndrome disorder

237984008NARP syndrome disorder

1217379007NKX6-2-related autosomal recessive hypomyelinating leucodystrophy disorder

1208339007Neuhauser Eichner Opitz syndrome disorder

1303586006Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome disorder

1375924007Neuronal ceroid lipofuscinosis type 10 disorder

1373775000Neuronal ceroid lipofuscinosis type 11 disorder

193165008Neuropathy in association with hereditary ataxia disorder

723441001Non-progressive cerebellar ataxia with intellectual disability disorder

722064003Odontoleukodystrophy disorder

1222655009Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome disorder

1237413006Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome disorder

230240004Progressive cerebellar ataxia with hypogonadism disorder

782696001Recessive mitochondrial ataxia syndrome disorder

254092004Saldino-Mainzer dysplasia disorder

721207002Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome disorder

717266001Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome disorder

763669001Spastic ataxia with congenital miosis disorder

1255323007Spastic ataxia, dysarthria due to glutaminase deficiency disorder

715776003Spastic paraplegia type 7 disorder

763351003Spectrin-associated autosomal recessive cerebellar ataxia disorder

129609000Spinocerebellar ataxia disorder

1255271005Type 1 diabetes mellitus, central and peripheral neurodegeneration syndrome disorder

447351004Vanishing white matter disease disorder

718845002X-linked intellectual disability with ataxia and apraxia syndrome disorder

718849008X-linked neurodegenerative syndrome Bertini type disorder

766818009X-linked non progressive cerebellar ataxia disorder

827172005X-linked progressive cerebellar ataxia disorder

Parents (2)

Children (84)