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).

This is just here as a test because I lose it

Term information

database cross reference
  • 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))
hasDbXref

UMLS:C1863844

ICD-10:E72.2

UMLS:C1997910

notation

ORPHA:247582