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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).

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Term information

database cross reference
  • ICD-10:E72.2 (Attributed (The ICD10 code is attributed by Orphanet))
  • UMLS:C1863844 (E (Exact mapping: the two concepts are equivalent))
  • UMLS:C1997910 (E (Exact mapping: the two concepts are equivalent))
  • ICD-10:E72.2 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))