CIM11 8A03.12
CIM-11 MMS (diagnostics, nouvelle classification OMS) — fichier du 2026-09-09
Ataxia due to Refsum disease
- chapitre
- 08 Diseases of the nervous system
- bloc
- Movement disorders
- definition
- Ataxia in the setting of Refsum disease, a rare autosomal recessive disorder caused by a mutation in the PHYH gene coding for peroxisomal phytanoyl-CoA hydroxylase or PEX7, coding for peroxin 7 receptor protein. Onset is usually in late childhood, initially presenting with retinitis pigmentosa, with
- type
- category
- navigateur oms (fr)
- https://icd.who.int/browse/2026-01/mms/fr#2055588684 ↗