CIM11 GB90.40
CIM-11 MMS (diagnostics, nouvelle classification OMS) — fichier du 2026-09-11
Hypotonia-cystinuria type 1
- chapitre
- 16 Diseases of the genitourinary system
- bloc
- Diseases of the urinary system
- definition
- This is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism due to a homozygous deletion of two contiguous genes on chromosome 2: SLC3A1 and PREP (2p21)
- type
- category
- navigateur oms (fr)
- https://icd.who.int/browse/2026-01/mms/fr#1852649756 ↗