Carbamoyl-phosphate synthetase 1 deficiency

Carbamoyl-phosphate synthetase 1 deficiency (disorder)

active

Code	`765329008`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20180731

Synonyms

CPS1 (carbamoyl-phosphate synthetase 1) deficiency
CPS1-gene related carbamoyl-phosphate synthetase 1 deficiency
Carbamoyl-phosphate synthetase I deficiency

Parents (3)

85995004Autosomal recessive hereditary disorder disorder
36444000Disorder of the urea cycle metabolism disorder
42930003Inborn error of amino acid metabolism disorder

Children (0)

None (leaf concept).