Early-onset cerebellar ataxia

Preferred Label : Early-onset cerebellar ataxia;

Inclusion CIM-10 : Early-onset cerebellar ataxia with myoclonus [Hunt's ataxia]; Early-onset cerebellar ataxia with retained tendon reflexes; Friedreich's ataxia (autosomal recessive); X-linked recessive spinocerebellar ataxia; Early-onset cerebellar ataxia with essential tremor;

Diag associé à un acte (%) : 70.8;

CMA : 2;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

G111;

UMLS CUI

C0393519;

Automatic exact mappings (from CISMeF team)
- Cerebellar ataxia, early-onset, with retained tendon reflexes [OMIM Phenotype]
- Early-onset cerebellar ataxia with retained tendon reflexes [ORDO Disease]
- spinocerebellar degenerations [MeSH Descriptor]
Currated CISMeF NLP mapping
- Early onset cerebellar ataxia (disorder) [SNOMED CT concept]
- Early-onset cerebellar ataxia [ICD-10 Sub-category (who)]
- cerebellar ataxia, early onset [MeSH concept]
DO Cross reference
- hypomyelinating leukodystrophy 11 [DO Concept]
- hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism [DO Concept]
- hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism [DO Concept]
- myoclonic cerebellar dyssynergia [DO Concept]
Orphanet concepts
- Ataxia with vitamin E deficiency [ORDO Disease]
- Ataxia-deafness-intellectual disability syndrome [ORDO Disease]
- Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome [ORDO Disease]
- Ataxia-tapetoretinal degeneration syndrome [ORDO Disease]
- Autosomal recessive ataxia due to ubiquinone deficiency [ORDO Disease]
- Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency [ORDO Disease]
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency [ORDO Disease]
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome [ORDO Disease]
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency [ORDO Disease]
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency [ORDO Disease]
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency [ORDO Disease]
- Autosomal recessive cerebellar ataxia-movement disorder syndrome [ORDO Disease]
- Autosomal recessive cerebellar ataxia-psychomotor delay syndrome [ORDO Disease]
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome [ORDO Disease]
- Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency [ORDO Disease]
- Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency [ORDO Disease]
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay [ORDO Disease]
- Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome [ORDO Disease]
- CAMOS syndrome [ORDO Disease]
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [ORDO Disease]
- Cerebellar ataxia-ectodermal dysplasia syndrome [ORDO Disease]
- Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia [ORDO Disease]
- Early-onset cerebellar ataxia with retained tendon reflexes [ORDO Disease]
- Friedreich ataxia [ORDO Disease]
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome [ORDO Disease]
- Infantile-onset spinocerebellar ataxia [ORDO Disease]
- Marinesco-Sjögren syndrome [ORDO Disease]
- Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome [ORDO Disease]
- Myoclonus-cerebellar ataxia-deafness syndrome [ORDO Disease]
- Neuhauser-Eichner-Opitz syndrome [ORDO Disease]
- Posterior column ataxia-retinitis pigmentosa syndrome [ORDO Disease]
- Progressive autosomal recessive ataxia-deafness syndrome [ORDO Disease]
- Spastic ataxia-dysarthria due to glutaminase deficiency [ORDO Disease]
- Spectrin-associated autosomal recessive cerebellar ataxia [ORDO Disease]
- Spinocerebellar ataxia type 21 [ORDO Disease]
- Spinocerebellar ataxia type 28 [ORDO Disease]
- Spinocerebellar ataxia type 34 [ORDO Disease]
- Spinocerebellar degeneration-corneal dystrophy syndrome [ORDO Disease]
- X-linked cerebellar ataxia [ORDO Disease]
- X-linked progressive cerebellar ataxia [ORDO Disease]
- X-linked spinocerebellar ataxia type 3 [ORDO Disease]
- X-linked spinocerebellar ataxia type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Early onset cerebellar ataxia (disorder) [SNOMED CT concept]
- Early-Onset Cerebellar Ataxia [NCIt concept]
- cerebellar ataxia, early onset [MeSH concept]
Validated automatic mappings to BTNT
- familial isolated deficiency of vitamin E [DO Concept]
- hypomyelinating leukodystrophy 11 [DO Concept]
- hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism [DO Concept]
- hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism [DO Concept]

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