Preferred Label : Neurological conditions associated with aminoacylase 1 deficiency;
ICD-11 definition : Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic
pattern of urinary N-acetyl amino acid excretion and variable neurologic symptoms.
(delayed psychomotor development or seizures).;
Origin ID : 620694696;
UMLS CUI : C1835922;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic
pattern of urinary N-acetyl amino acid excretion and variable neurologic symptoms.
(delayed psychomotor development or seizures).