OMOP Concept 36676588
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency
StandardConditionSNOMED773498006Disorder
Maps from
0
Descendants
0
Valid from
31 Jan 2019
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Synonyms
Alternative names recorded for Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency across source vocabularies.
- Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
- SCAR23 - spinocerebellar ataxia autosomal recessive type 23
- síndrome de ataxia cerebelosa, epilepsia y discapacidad intelectual autosómico recesivo debido a deficiencia de TUD
- síndrome de ataxia cerebelosa, epilepsia y discapacidad intelectual autosómico recesivo debido a deficiencia de TUD (trastorno)
- Spinocerebellar ataxia autosomal recessive type 23
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(45)Roll up to these when you need a wider cohort.
- 1Abnormal nervous system function
- 1Autosomal recessive hereditary disorder
- 1Cerebellar ataxia
- 1Chronic brain syndrome
- 1Developmental hereditary disorder
- 1Generalized epilepsy
- 1Genetic intellectual disability
- 1Hereditary ataxia
- 2Ataxia
- 2Autosomal hereditary disorder
- 2Cerebellar disorder
- 2Chronic nervous system disorder
- 2Developmental disorder
- 2Disorder of brain
- 2Epilepsy
- 2Functional finding
- 2Genetic disease
- 2Hereditary disease
- 2Hereditary disorder of nervous system
- 2Intellectual disability
- 2Neurological finding
- 3Abnormal behavior
- 3Chronic disease
- 3Clinical finding
- 3Disease
Showing 25 of 45. Retrieve the full set via the API.
Get this concept via the API
Resolve Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.
curl "https://api.omophub.com/v1/concepts/36676588?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card