Citrin deficiencyGo to external page http://www.orpha.net/ORDO/Orphanet_247582
A rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).
- UMLS:C1863844 (E (Exact mapping: the two concepts are equivalent))
- UMLS:C1997910 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:E72.2 (Attributed (The ICD10 code is attributed by Orphanet))
- ICD-10:E72.2 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))