Friedreich-like ataxia with selective vitamin E deficiency

Preferred Label : Friedreich-like ataxia with selective vitamin E deficiency;

ICD-11 definition : Friedreich-like ataxia with selective vitamin E deficiency is a metabolic ataxia which clinical presentation resembles Friedreich ataxia associated with markedly reduce plasma levels of alfa-tocoferol and without known cases of malabsorption.;

ICD-11 synonym : AVED - [isolated vitamin E deficiency]; isolated vitamin E deficiency; Familial isolated vitamin E deficiency;

ICD-11 acronym : AVED;

Details

Origin ID

1011034743;

UMLS CUI

C1848533;

Currated CISMeF NLP mapping
- Ataxia with Isolated Vitamin E Deficiency [NCIt concept]
- 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]
- ataxia with vitamin E deficiency [MeSH Supplementary Concept]
- ataxia with vitamin E deficiency [Disease (Nov.)]
- familial isolated deficiency of vitamin E [DO Concept]
False automatic mappings
- Aves [NCIt concept]
- birds [MeSH Descriptor]
See also inter- (CISMeF)
- alpha tocopherol transfer protein [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxia with Isolated Vitamin E Deficiency [NCIt 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]
- ataxia with vitamin E deficiency [MeSH Supplementary Concept]
- ataxia with vitamin E deficiency [Disease (Nov.)]
- familial isolated deficiency of vitamin E [DO Concept]

Keyword's position in hierarchy(ies) :

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