Preferred Label : Fumarase deficiency;
ICD-11 definition : Fumaric aciduria is a tricarboxylic acid cycle disorder characterised by early onset
but non-specific clinical signs: hypotonia, psychomotor retardation, convulsions,
respiratory distress, frequent cerebral malformations and polyhydramnios.;
ICD-11 synonym : Fumaric aciduria;
Origin ID : 780506966;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- See also inter- (CISMeF)
Fumaric aciduria is a tricarboxylic acid cycle disorder characterised by early onset
but non-specific clinical signs: hypotonia, psychomotor retardation, convulsions,
respiratory distress, frequent cerebral malformations and polyhydramnios.
