OMOP Concept 45765491
Ataxia with vitamin E deficiency
StandardConditionSNOMED702442008Disorder
Maps from
2
Descendants
0
Valid from
31 Jul 2014
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Source codes that map to this concept
2 source codes normalize to Ataxia with vitamin E deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C535393 | Ataxia with vitamin E deficiency | Non-standard |
| Nebraska Lexicon | 702442008 | Friedreich ataxia phenotype with selective vitamin E deficiency | Non-standard |
Synonyms
Alternative names recorded for Ataxia with vitamin E deficiency across source vocabularies.
- ataxia con deficiencia de vitamina E
- ataxia con deficiencia de vitamina E (trastorno)
- Ataxia with isolated vitamin E deficiency
- Ataxia with vitamin E deficiency (disorder)
- Familial isolated vitamin E deficiency
- fenotipo de ataxia de Friedreich con deficiencia selectiva de vitamina E
- Friedreich ataxia phenotype with selective vitamin E deficiency
- Friedreich-like ataxia
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(22)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Hereditary disorder of nervous system
- 1Nutritional ataxic neuropathy
- 2Autosomal hereditary disorder
- 2Disorder of nervous system
- 2Hereditary disorder by system
- 2Vitamin deficiency related neuropathy
- 3Disorder of body system
- 3Hereditary disease
- 3Neuropathy due to nutritional deficiency
- 3Secondary peripheral neuropathy
- 4Disease
- 4Genetic disease
- 4Neurological disorder due to nutrient deficiency
- 4Neuropathy
- 4Peripheral nerve disease
- 5Clinical finding
- 5Disorder of soft tissue
- 5Disorder of the peripheral nervous system
- 5Nutritional deficiency associated condition
- 5Peripheral nerve finding
- 6General finding of soft tissue
Get this concept via the API
Resolve Ataxia with vitamin E 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/45765491?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card