Neurological conditions associated with aminoacylase 1 deficiency

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).;

Détails

Origin ID

620694696;

UMLS CUI

C1835922;

Currated CISMeF NLP mapping
- Aminoacylase 1 deficiency [OMIM Phenotype]
- Aminoacylase 1 deficiency [MeSH concept]
- Deficiency of aminoacylase 1 (disorder) [SNOMED CT concept]
- Neurological conditions associated with aminoacylase 1 deficiency [ORDO Disease]
- aminoacylase 1 deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aminoacylase 1 deficiency [OMIM Phenotype]
- Aminoacylase 1 deficiency [MeSH concept]
- Deficiency of aminoacylase 1 (disorder) [SNOMED CT concept]
- Neurological conditions associated with aminoacylase 1 deficiency [ORDO Disease]
- aminoacylase 1 deficiency [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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