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
- 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))
Term relations
Subclass of:
- Citrullinemia
- present_in some Worldwide and has_point_prevalence_range some Unknown_epidemiological_range
- has_inheritance some autosomal recessive
- has_age_of_onset some all ages