aminoacylase 1 deficiency

Preferred Label : aminoacylase 1 deficiency;

MeSH synonym : deficiency of the aminoacylase-1 enzyme;

Origin ID

C538246;

UMLS CUI

C1835922;

Currated CISMeF NLP mapping
- Aminoacylase 1 deficiency [OMIM Phenotype]
- Deficiency of aminoacylase 1 (disorder) [SNOMED CT concept]
- Neurological conditions associated with aminoacylase 1 deficiency [ICD-11 More detail]
- Neurological conditions associated with aminoacylase 1 deficiency [ORDO Disease]
Has phenotype(s) (HPO)
- Broad nasal root [HPO term]
MeSH term(s) associated for indexing
- amidohydrolases [MeSH Descriptor]
- amino acid metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- Aminoacylase 1 deficiency [MeSH concept]
See also (suggested by CISMeF)
- aminoacylase I [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Neurological conditions associated with aminoacylase 1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aminoacylase 1 deficiency [OMIM Phenotype]
- Deficiency of aminoacylase 1 (disorder) [SNOMED CT concept]
- Neurological conditions associated with aminoacylase 1 deficiency [ORDO Disease]
- Neurological conditions associated with aminoacylase 1 deficiency [ICD-11 More detail]