Preferred Label : Homocystinuria without methylmalonic aciduria;
ICD-11 definition : Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin)
metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental
delay, and associated with homocystinuria and hyperhomocysteinemia.;
ICD-11 synonym : Methionine synthase deficiency; Methylcobalamin deficiency; N5-methylhomocysteine transferase deficiency; 5-methyltetrahydrofolate-homocysteine s-methyltransferase;
Origin ID : 726186034;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
See also inter- (CISMeF)
Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin)
metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental
delay, and associated with homocystinuria and hyperhomocysteinemia.