Carbamoyl-Phosphate Synthetase I DeficiencyNCIt concept
Preferred Label : Carbamoyl-Phosphate Synthetase I Deficiency;
NCIt related terms : Carbamoyl Phosphate Synthetase Deficiency;
NCIt definition : A congenital disorder caused by mutations in the CPS1 gene. It is characterized by
accumulation of ammonia in the blood. Signs and symptoms appear in infancy and include
lethargy, seizures, developmental delay and mental disability.;
https://www.insee.fr/fr/statistiques/6964865 2022 France technical report Effect, Appearance sick leave Outcome of Therapy sick days No Effect Care Of Nearly Every Day patient acceptance of health care Disease-Free Survival Short Heart Murmur Carbamoyl-Phosphate Synthetase I Deficiency deficiency diseases Reported Event Term disease, nos health care deficiency state Daily Health Care Delivery Disease Free