FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
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
5936971000241110 ataxie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5936971000241110 ataxie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

157 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary ataxia (disorder) Is a Ataxia true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary ataxia (disorder) Is a Hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary ataxia (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary ataxia (disorder) Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Dentatorubropallidoluysian degeneration Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Episodic ataxia Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fragile X associated tremor ataxia syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a False Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia type 7 (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Boucher Neuhäuser syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated. Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with ataxia and apraxia syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991. Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndromic intellectual disability characterised by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993. Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Non-progressive cerebellar ataxia with intellectual disability (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive posterior column ataxia and retinitis pigmentosa (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia co-occurrent and due to cerebrotendinous xanthomatosis Is a False Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia co-occurrent and due to phytanic acid storage disease (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia co-occurrent and due to abetalipoproteinemia (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive ataxia due to ubiquinone deficiency (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia Beauce type (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Myoclonus, cerebellar ataxia, deafness syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts. Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia with late-onset spasticity Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spectrin-associated autosomal recessive cerebellar ataxia Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present. Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked non progressive cerebellar ataxia (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia pancytopenia syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset spasticity with hyperglycinemia (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia, photosensitivity, short stature syndrome (disorder) Is a False Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Recessive mitochondrial ataxia syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia with tapetoretinal degeneration syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic ataxia with leukoencephalopathy (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spastic ataxia type 1 (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Infantile-onset autosomal recessive non progressive cerebellar ataxia Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fatal X-linked ataxia with deafness and loss of vision (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Saldino-Mainzer dysplasia Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Marinesco-Sjögren syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked progressive cerebellar ataxia (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neuropathy in association with hereditary ataxia Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Onset of disease between 2 and 5 years of age with characteristics of cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), a recessive autosomal mode of inheritance, neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes. This disease is linked to mutations in the five EIF2B genes encoding the five subunits of the eukaryotic initiation factor 2B (eIF2B), involved in the protein synthesis and its regulation under cellular stress. Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive cerebellar ataxia with hypogonadism Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant cerebellar ataxia type 2 Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual developmental disorder Christianson type (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked neurodegenerative syndrome Bertini type (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurological disorder characterised by infantile or childhood onset of recurrent acute encephalopathic episodes with cerebellar and extrapyramidal involvement following febrile illnesses. During the episodes, patients typically show sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech, as well as choreic and athetoid movements, seizures, loss of deep tendon reflexes, and presence of pathological reflexes. Episodes last from day to weeks and may leave residual symptoms such as speech impairment and poor coordination. There have been no further descriptions in the literature since 1983. Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive. Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia with oculomotor apraxia type 4 Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spastic ataxia, dysarthria due to glutaminase deficiency Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Chorea due to hereditary ataxia (disorder) Due to True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Friedreich ataxia (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination of early myelinating structures Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome (disorder) Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dysequilibrium syndrome Is a True Hereditary ataxia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start