Succinyl-CoA:3-oxoacid CoA transferase deficiency

Preferred Label : Succinyl-CoA:3-oxoacid CoA transferase deficiency;

CISMeF synonym : 3-Oxoacid coa transferase deficiency;

MeSH synonym : ketoacidosis due to SCOT deficiency; SCOT deficiency; Succinyl-Coa:3-Ketoacid Coa-Transferase deficiency; Succinyl-Coa:Acetoacetate transferase deficiency; Succinyl-Coa:3-Ketoacid coa transferase deficiency; Succinyl-Coa 3-Oxoacid transferase deficiency;

Détails

Origin ID

C537527;

UMLS CUI

C0342792;

CISMeF manual mappings
- Succinyl-CoA:3-oxoacid CoA transferase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- SCOT deficiency [Disease (Nov.)]
- Succinyl-CoA acetoacetate transferase deficiency [ICD-11 More detail]
- Succinyl-coa:3-oxoacid-coa transferase deficiency [OMIM Phenotype]
- Succinyl-coenzyme A acetoacetate transferase deficiency (disorder) [SNOMED CT concept]
Has phenotype(s) (HPO)
- Polypnea [HPO term]
- Severe intermittent ketoacidosis [HPO term]
MeSH term(s) associated for indexing
- acidosis [MeSH Descriptor]
- coenzyme A-transferases [MeSH Descriptor]
Record concept(s)
- 3-Oxoacid Coa Transferase Deficiency [MeSH concept]
- Succinyl-CoA:3-oxoacid CoA transferase deficiency [MeSH concept]
See also (suggested by CISMeF)
- 3-ketoacid CoA-transferase [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- SCOT deficiency [Disease (Nov.)]
- Succinyl-CoA acetoacetate transferase deficiency [ICD-11 More detail]
- Succinyl-CoA:3-oxoacid CoA transferase deficiency [ORDO Disease]
- Succinyl-coa:3-oxoacid-coa transferase deficiency [OMIM Phenotype]
- Succinyl-coenzyme A acetoacetate transferase deficiency (disorder) [SNOMED CT concept]

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