transaldolase deficiency

Preferred Label : transaldolase deficiency;

MeSH note : mutation in TALDO1;

Origin ID

C563207;

UMLS CUI

C1291329;

Currated CISMeF NLP mapping
- Deficiency of transaldolase (disorder) [SNOMED CT concept]
- Transaldolase deficiency [ICD-11 More detail]
- Transaldolase deficiency [OMIM Phenotype]
- Transaldolase deficiency [ORDO Disease]
MeSH term(s) associated for indexing
- carbohydrate metabolism, inborn errors [MeSH Descriptor]
- transaldolase [MeSH Descriptor]
Record concept(s)
- transaldolase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of transaldolase (disorder) [SNOMED CT concept]
- Transaldolase deficiency [ORDO Disease]
- Transaldolase deficiency [OMIM Phenotype]
- Transaldolase deficiency [ICD-11 More detail]