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.;

Details


Main resources

You can consult :


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

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03/05/2025


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