Ataxia with Isolated Vitamin E Deficiency

Preferred Label : Ataxia with Isolated Vitamin E Deficiency;

NCIt synonyms : AVED;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the TTPA gene, encoding alpha-tocopherol transfer protein. It is characterized by spinocerebellar ataxia and extremely low concentrations of vitamin E.;

Details

Origin ID

C155996;

UMLS CUI

C1848533;

Automatic exact mappings (from CISMeF team)
- Aves [PASCAL theme]
- Aves [PASCAL theme]
- Aves [PASCAL theme]
- Aves [PASCAL theme]
- Aves [PASCAL theme]
- Aves [FRANCIS theme]
- Aves [COVID-19 Thesaurus concept]
- Class Aves (organism) [SNOMED CT concept]
- birds [MeSH Descriptor]
Currated CISMeF NLP mapping
- Ataxia with vitamin E deficiency [ORDO Disease]
- Ataxia with vitamin E deficiency [MeSH concept]
- Ataxia with vitamin E deficiency (disorder) [SNOMED CT concept]
- Ataxia with vitamin e deficiency [OMIM Phenotype]
- Friedreich-like ataxia with selective vitamin E deficiency [ICD-11 More detail]
- ataxia with vitamin E deficiency [MeSH Supplementary Concept]
- ataxia with vitamin E deficiency [Disease (Nov.)]
- familial isolated deficiency of vitamin E [DO Concept]
DO Cross reference
- familial isolated deficiency of vitamin E [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- Angiodysplasia of colon [ICD-11 Subcategory]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxia with vitamin E deficiency [MeSH concept]
- Ataxia with vitamin E deficiency [ORDO Disease]
- Ataxia with vitamin E deficiency [MedDRA Preferred Term]
- Ataxia with vitamin E deficiency (disorder) [SNOMED CT concept]
- Ataxia with vitamin e deficiency [OMIM Phenotype]
- Friedreich-like ataxia with selective vitamin E deficiency [ICD-11 More detail]
- ataxia with vitamin E deficiency [MeSH Supplementary Concept]
- ataxia with vitamin E deficiency [Disease (Nov.)]
- familial isolated deficiency of vitamin E [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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