Preferred Label : AICAR transformylase deficiency;
ICD-11 definition : AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized
clinically in the single reported case to date by profound intellectual deficit, epilepsy,
dysmorphic features of the knees, elbows, and shoulders and congenital blindness.;
ICD-11 synonym : ATIC deficiency; 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase deficiency; IMP cyclohydrolase deficiency; AICA-ribosiduria; 5-amino-4-imidazolecarboxamide ribosiduria;
Origin ID : 536386745;
Currated CISMeF NLP mapping
AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized
clinically in the single reported case to date by profound intellectual deficit, epilepsy,
dysmorphic features of the knees, elbows, and shoulders and congenital blindness.
