ICD-11 classes
20 Developmental anomalies
LD90 — Conditions with disorders of intellectual development as a...
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: