Preferred Label : Malonic aciduria;
ICD-11 definition : Malonic aciduria is an organic aciduria caused by deficiency of malonyl-CoA decarboxylase
(MCD) that usually presents in early childhood with variable manifestations including
developmental delay, hypotonia, seizures, hypoglycaemia, metabolic acidosis, cardiomyopathy
and diarrhoea.;
ICD-11 synonym : Malonyl-CoA decarboxylase deficiency;
Origin ID : 1373430210;
UMLS CUI : C0342793;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Malonic aciduria is an organic aciduria caused by deficiency of malonyl-CoA decarboxylase
(MCD) that usually presents in early childhood with variable manifestations including
developmental delay, hypotonia, seizures, hypoglycaemia, metabolic acidosis, cardiomyopathy
and diarrhoea.
