Beta-Ureidopropionase deficiency

Preferred Label : Beta-Ureidopropionase deficiency;

MeSH note : mutation in UPB1;

Origin ID

C563210;

UMLS CUI

C1291512;

Currated CISMeF NLP mapping
- Beta-ureidopropionase deficiency [ICD-11 More detail]
- Beta-ureidopropionase deficiency [OMIM Phenotype]
- Beta-ureidopropionase deficiency [ORDO Disease]
- Deficiency of beta-ureidopropionase (disorder) [SNOMED CT concept]
- betaureidopropionase deficiency [Disease (Nov.)]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- amidohydrolases [MeSH Descriptor]
- brain diseases [MeSH Descriptor]
- movement disorders [MeSH Descriptor]
- purine-pyrimidine metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- Beta-Ureidopropionase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beta-ureidopropionase deficiency [ORDO Disease]
- Beta-ureidopropionase deficiency [OMIM Phenotype]
- Beta-ureidopropionase deficiency [ICD-11 More detail]
- Deficiency of beta-ureidopropionase (disorder) [SNOMED CT concept]
- betaureidopropionase deficiency [Disease (Nov.)]