Autosomal recessive ataxia with oculomotor apraxia type 2

Preferred Label : Autosomal recessive ataxia with oculomotor apraxia type 2;

ICD-11 definition : Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 is a form of autosomal recessive cerebellar ataxia characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level.;

ICD-11 synonym : AOA2 - [Autosomal recessive ataxia with oculomotor apraxia type 2];

ICD-11 acronym : AOA2;

Details

Origin ID

907196820;

Currated CISMeF NLP mapping
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) [SNOMED CT concept]
- Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 [NCIt concept]
- Spinocerebellar ataxia with axonal neuropathy type 2 [ORDO Disease]
- Spinocerebellar ataxia, autosomal recessive 1 [MeSH concept]
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [OMIM Phenotype]
- ataxia with oculomotor apraxia type 2 [Disease (Nov.)]
- recessive non-Friedreich spinocerebellar ataxia type 1 [Disease (Nov.)]
- spinocerebellar ataxia with axonal neuropathy 2 [DO Concept]
- spinocerebellar ataxia, autosomal recessive 1 [MeSH Supplementary Concept]
False automatic mappings
- senataxin [ORDO Gene]
See also inter- (CISMeF)
- SETX wt Allele [NCIt concept]
- Spinocerebellar ataxia, autosomal recessive 1 [MeSH concept]
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [OMIM Phenotype]
- spinocerebellar ataxia, autosomal recessive 1 [MeSH Supplementary Concept]

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