ICD-11 classes
13 Diseases of the digestive system
Diseases of liver
5C90 — Metabolic or transporter liver disease
5C90.0 — Liver diseases due to urea cycle defects
5C50.A1 — Carbamoylphosphate synthetase deficiency
ICD-11 5C50.A1 — Carbamoylphosphate synthetase deficiency
Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis.
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere: