Hyper-beta-alaninaemia

Preferred Label : Hyper-beta-alaninaemia;

ICD-11 synonym : Beta-alanine-2-ketoglutarate transaminase deficiency;

Origin ID

1539941275;

UMLS CUI

C0268630;

Automatic exact mappings (from CISMeF team)
- Hyperbeta-alaninemia [HPO term]
Currated CISMeF NLP mapping
- Hyper-Beta-Alaninemia [MeSH concept]
- Hyper-Beta-Alaninemia [MeSH Supplementary Concept]
- Hyper-beta-alaninemia [ORDO Disease]
- Hyper-beta-alaninemia [OMIM Phenotype]
- Hyper-beta-alaninemia (disorder) [SNOMED CT concept]
- Hyperalaninemia [HPO term]
- Hyperalaninemia [CISMeF Querying Strategy]
- Hyperalaninemia [PASCAL descriptor]
- hyper-beta-alaninemia [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyper-Beta-Alaninemia [MeSH concept]
- Hyper-Beta-Alaninemia [MeSH Supplementary Concept]
- Hyper-beta-alaninemia [OMIM Phenotype]
- Hyper-beta-alaninemia [ORDO Disease]
- Hyper-beta-alaninemia (disorder) [SNOMED CT concept]
- Hyperalaninemia [HPO term]
- hyper-beta-alaninemia [SNOMED Notion]