Preferred Label : Ochoa syndrome;
ICD-11 definition : Ochoa syndrome is a genetic syndrome characterized by the association of severe voiding
dysfunction and a characteristic facial expression. Patients with Ochoa syndrome present
with incontinence, urinary tract infection and hydronephrosis. Voiding dysfunction
is the result of an obstructive uropathy. The peculiar facial dysmorphism is related
to an unusual inversion of facial expression that occurs when the child smiles or
cries.;
Origin ID : 443886910;
Automatic exact mappings (from CISMeF team)
Ochoa syndrome is a genetic syndrome characterized by the association of severe voiding
dysfunction and a characteristic facial expression. Patients with Ochoa syndrome present
with incontinence, urinary tract infection and hydronephrosis. Voiding dysfunction
is the result of an obstructive uropathy. The peculiar facial dysmorphism is related
to an unusual inversion of facial expression that occurs when the child smiles or
cries.
