Preferred Label : Oxoprolinuria;
ICD-11 definition : 5-Oxoprolinase deficiency is a clinically heterogeneous disorder of the gamma-glutamyl
cycle characterized by 5-oxoprolinuria. Manifestations can include renal stone formation,
enterocolitis, intellectual deficiency, neonatal hypoglycemia, microcytic anemia and
microcephaly.;
ICD-11 synonym : 5-oxoprolinase deficiency;
Origin ID : 589223356;
UMLS CUI : C0268525;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
5-Oxoprolinase deficiency is a clinically heterogeneous disorder of the gamma-glutamyl
cycle characterized by 5-oxoprolinuria. Manifestations can include renal stone formation,
enterocolitis, intellectual deficiency, neonatal hypoglycemia, microcytic anemia and
microcephaly.