CIM11 5C50.F2
CIM-11 MMS (diagnostics, nouvelle classification OMS) — fichier du 2026-09-09
Homocarnosinosis
- chapitre
- 05 Endocrine, nutritional or metabolic diseases
- bloc
- Inborn errors of metabolism
- definition
- Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed but their mother was symptom free. It is
- type
- category
- navigateur oms (fr)
- https://icd.who.int/browse/2026-01/mms/fr#166229372 ↗