Preferred Label : Adult-onset citrullinaemia type 1;
ICD-11 definition : Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 characterized clinically
by adult onset of symptoms including variable hyperammonemia and less striking neurological
findings which may include intense headache, scotomas, migraine-like episodes, ataxia,
slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure
may occur.;
Origin ID : 429215356;
Currated CISMeF NLP mapping
Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 characterized clinically
by adult onset of symptoms including variable hyperammonemia and less striking neurological
findings which may include intense headache, scotomas, migraine-like episodes, ataxia,
slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure
may occur.