" /> Argininaemia - CISMeF





ICD-11 code : 5C50.A2;

Preferred Label : Argininaemia;

ICD-11 definition : Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.;

ICD-11 synonym : Arginase deficiency; Hyperargininaemia;

ICD-11 inclusion : arginine hyperaminoaciduria; metabolic disorder of arginine;

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Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.

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03/05/2025


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