Beta-ureidopropionase deficiency

Preferred Label : Beta-ureidopropionase deficiency;

ICD-11 definition : This refers to deficiency in the enzyme that belongs to the family of hydrolases, those acting on carbon-nitrogen bonds other than peptide bonds, specifically in linear amides.;

ICD-11 synonym : Beta-alanine synthase deficiency;

Details

Origin ID

1227425060;

UMLS CUI

C1291512;

Currated CISMeF NLP mapping
- Beta-Ureidopropionase deficiency [MeSH Supplementary Concept]
- Beta-Ureidopropionase deficiency [MeSH concept]
- Beta-ureidopropionase deficiency [ORDO Disease]
- Beta-ureidopropionase deficiency [OMIM Phenotype]
- Deficiency of beta-ureidopropionase (disorder) [SNOMED CT concept]
- betaureidopropionase deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beta-Ureidopropionase deficiency [MeSH concept]
- Beta-Ureidopropionase deficiency [MeSH Supplementary Concept]
- Beta-ureidopropionase deficiency [OMIM Phenotype]
- Beta-ureidopropionase deficiency [ORDO Disease]
- Deficiency of beta-ureidopropionase (disorder) [SNOMED CT concept]
- betaureidopropionase deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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