Cerebellar atrophy - ataxia - seizures

Preferred Label : Cerebellar atrophy - ataxia - seizures;

ICD-11 definition : Autosomal recessive ataxia due to ubiquinone deficiency is a mitochondrial disease characterised by childhood-onset progressive ataxia and cerebellar atrophy. Exercise intolerance with elevated lactate levels and mild intellectual deficit may also be present.;

ICD-11 synonym : Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive ataxia due to coenzyme Q10 deficiency;

Détails

Origin ID

1244147456;

Currated CISMeF NLP mapping
- Autosomal recessive ataxia due to ubiquinone deficiency [ORDO Disease]
- Autosomal recessive ataxia due to ubiquinone deficiency (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- spinocerebellar ataxia, autosomal recessive 9 [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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