Preferred Label : Lethal ataxia with deafness and optic atrophy;
ICD-11 definition : Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is a disorder
of purine metabolism characterized by intellectual deficit, early-onset hypotonia,
ataxia, delayed motor development, hearing impairment and loss of vision due to optic
atrophy, susceptibility to infections, and later, flaccid tetraplegia and areflexia.;
ICD-11 synonym : Arts syndrome;
Origin ID : 1859847483;
UMLS CUI : C0796028;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is a disorder
of purine metabolism characterized by intellectual deficit, early-onset hypotonia,
ataxia, delayed motor development, hearing impairment and loss of vision due to optic
atrophy, susceptibility to infections, and later, flaccid tetraplegia and areflexia.
