ataxia with vitamin E deficiency

Preferred Label : ataxia with vitamin E deficiency;

MeSH synonym : familial isolated deficiency of vitamin E; friedreich-like ataxia with selective vitamin E deficiency; ataxia with isolated vitamin E deficiency; ataxia, Friedreich-Like, with selective vitamin E deficiency; Friedreich-Like ataxia; vitamin E, familial isolated deficiency of; friedreich ataxia phenotype with selective vitamin E deficiency; familial isolated vitamin E deficiency;

Details

Origin ID

C535393;

UMLS CUI

C1848533;

CISMeF manual mappings
- Ataxia with vitamin E deficiency [ORDO Disease]
- Ataxia with vitamin E deficiency (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Ataxia with Isolated Vitamin E Deficiency [NCIt 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 [Disease (Nov.)]
- familial isolated deficiency of vitamin E [DO Concept]
DO Cross reference
- familial isolated deficiency of vitamin E [DO Concept]
MeSH term(s) associated for indexing
- ataxia [MeSH Descriptor]
- vitamin e deficiency [MeSH Descriptor]
ORDO relation(s)
- Ataxia with vitamin E deficiency [ORDO Disease]
Record concept(s)
- Ataxia with vitamin E deficiency [MeSH concept]
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 [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 [Disease (Nov.)]
- familial isolated deficiency of vitamin E [DO Concept]

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