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763597000: Hereditary ataxia (disorder)

Status: current, Defined. 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 Case insensitive SNOMED CT core
3642974017 Hereditary ataxia en Synonym Active Case insensitive SNOMED CT core

148 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary ataxia Is a Hereditary disorder of nervous system true Inferred relationship Some
Hereditary ataxia Finding site Structure of nervous system true Inferred relationship Some 1
Hereditary ataxia Is a Ataxia true Inferred relationship Some
Hereditary ataxia Is a Hereditary disease false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome Is a True Hereditary ataxia Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Is a True Hereditary ataxia Inferred relationship Some
Childhood-onset spasticity with hyperglycinaemia Is a True Hereditary ataxia Inferred relationship Some
Ataxia, photosensitivity, short stature syndrome Is a False Hereditary ataxia Inferred relationship Some
Gemignani syndrome Is a True Hereditary ataxia Inferred relationship Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Is a True Hereditary ataxia Inferred relationship Some
Recessive mitochondrial ataxia syndrome Is a True Hereditary ataxia Inferred relationship Some
Ataxia with tapetoretinal degeneration syndrome Is a True Hereditary ataxia Inferred relationship Some
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome Is a True Hereditary ataxia Inferred relationship Some
Autosomal recessive spastic ataxia with leukoencephalopathy Is a True Hereditary ataxia Inferred relationship Some
Autosomal dominant spastic ataxia type 1 Is a True Hereditary ataxia Inferred relationship Some
Infantile-onset autosomal recessive non progressive cerebellar ataxia Is a True Hereditary ataxia Inferred relationship Some
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome Is a True Hereditary ataxia Inferred relationship Some
Lethal ataxia-deafness-optic atrophy Is a True Hereditary ataxia Inferred relationship Some
Saldino-Mainzer dysplasia Is a True Hereditary ataxia Inferred relationship Some
Marinesco-Sjögren syndrome Is a True Hereditary ataxia Inferred relationship Some
X-linked progressive cerebellar ataxia Is a True Hereditary ataxia Inferred relationship Some
Neuropathy in association with hereditary ataxia Is a True Hereditary ataxia Inferred relationship Some
Vanishing white matter disease Is a True Hereditary ataxia Inferred relationship Some
Progressive cerebellar ataxia with hypogonadism Is a True Hereditary ataxia Inferred relationship Some
Autosomal dominant cerebellar ataxia type 2 Is a True Hereditary ataxia Inferred relationship Some
Christianson syndrome Is a True Hereditary ataxia Inferred relationship Some
X-linked neurodegenerative syndrome Bertini type Is a True Hereditary ataxia Inferred relationship Some
Congenital cerebellar ataxia due to RNU12 mutation Is a True Hereditary ataxia Inferred relationship Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus Is a True Hereditary ataxia Inferred relationship Some
Neuhauser Eichner Opitz syndrome Is a True Hereditary ataxia Inferred relationship Some
Odontoleukodystrophy Is a True Hereditary ataxia Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a True Hereditary ataxia Inferred relationship Some
Cerebellar ataxia with oculomotor apraxia type 4 Is a True Hereditary ataxia Inferred relationship Some
NKX6-2-related autosomal recessive hypomyelinating leucodystrophy Is a True Hereditary ataxia Inferred relationship Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome Is a True Hereditary ataxia Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Is a True Hereditary ataxia Inferred relationship Some
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome Is a True Hereditary ataxia Inferred relationship Some
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome Is a True Hereditary ataxia Inferred relationship Some
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Is a True Hereditary ataxia Inferred relationship Some
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome Is a True Hereditary ataxia Inferred relationship Some
Spastic ataxia, dysarthria due to glutaminase deficiency Is a True Hereditary ataxia Inferred relationship Some
Chorea due to hereditary ataxia Due to True Hereditary ataxia Inferred relationship Some 2
Infantile multisystem neurologic, endocrine, pancreatic disease Is a True Hereditary ataxia Inferred relationship Some
Dentatorubropallidoluysian degeneration Is a True Hereditary ataxia Inferred relationship Some
Spinocerebellar ataxia Is a True Hereditary ataxia Inferred relationship Some
Episodic ataxia Is a True Hereditary ataxia Inferred relationship Some
Fragile X associated tremor ataxia syndrome Is a True Hereditary ataxia Inferred relationship Some
EAST (Epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome Is a False Hereditary ataxia Inferred relationship Some
Autosomal recessive spastic ataxia of Charlevoix-Saguenay Is a True Hereditary ataxia Inferred relationship Some
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 Is a True Hereditary ataxia Inferred relationship Some
Cerebellar ataxia and ectodermal dysplasia Is a True Hereditary ataxia Inferred relationship Some
Spastic paraplegia type 7 Is a True Hereditary ataxia Inferred relationship Some
Boucher Neuhäuser syndrome Is a True Hereditary ataxia Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a True Hereditary ataxia Inferred relationship Some
Cerebellar ataxia Cayman type Is a True Hereditary ataxia Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome Is a True Hereditary ataxia Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome Is a True Hereditary ataxia Inferred relationship Some
Ataxia with deafness and intellectual disability syndrome Is a True Hereditary ataxia Inferred relationship Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Is a True Hereditary ataxia Inferred relationship Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome Is a True Hereditary ataxia Inferred relationship Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome Is a True Hereditary ataxia Inferred relationship Some
Non-progressive cerebellar ataxia with intellectual disability Is a True Hereditary ataxia Inferred relationship Some
Posterior column ataxia with retinitis pigmentosa syndrome Is a True Hereditary ataxia Inferred relationship Some
Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum Is a True Hereditary ataxia Inferred relationship Some
Ataxia co-occurrent and due to cerebrotendinous xanthomatosis Is a False Hereditary ataxia Inferred relationship Some
Ataxia co-occurrent and due to phytanic acid storage disease Is a True Hereditary ataxia Inferred relationship Some
Ataxia co-occurrent and due to abetalipoproteinaemia Is a True Hereditary ataxia Inferred relationship Some
Autosomal recessive ataxia due to ubiquinone deficiency Is a True Hereditary ataxia Inferred relationship Some
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 Is a True Hereditary ataxia Inferred relationship Some
Autosomal recessive cerebellar ataxia Beauce type Is a True Hereditary ataxia Inferred relationship Some
CAMOS syndrome Is a True Hereditary ataxia Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome Is a True Hereditary ataxia Inferred relationship Some
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome Is a True Hereditary ataxia Inferred relationship Some
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Is a True Hereditary ataxia Inferred relationship Some
Autosomal recessive cerebellar ataxia with late-onset spasticity Is a True Hereditary ataxia Inferred relationship Some
Spectrin-associated autosomal recessive cerebellar ataxia Is a True Hereditary ataxia Inferred relationship Some
Spastic ataxia with congenital miosis Is a True Hereditary ataxia Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome Is a True Hereditary ataxia Inferred relationship Some
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome Is a True Hereditary ataxia Inferred relationship Some
X-linked non progressive cerebellar ataxia Is a True Hereditary ataxia Inferred relationship Some
Ataxia pancytopenia syndrome Is a True Hereditary ataxia Inferred relationship Some
CLCN2-related leukoencephalopathy Is a True Hereditary ataxia Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency Is a True Hereditary ataxia Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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