Succinyl-CoA acetoacetate transferase deficiency

Preferred Label : Succinyl-CoA acetoacetate transferase deficiency;

ICD-11 definition : Succinyl-CoA acetoacetate transferase deficiency is a ketolytic defect, in which extrahepatic tissues cannot use the ketone bodies produced by the liver. This disorder is characterized clinically by intermittent ketoacidosis with, however, no clinical symptoms between these episodes. Ketoacidotic episodes are usually severe and the first episode develops in the neonatal period or early childhood (6-20mo).;

ICD-11 synonym : Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency;

Details

Origin ID

1541815077;

UMLS CUI

C0342792;

Currated CISMeF NLP mapping
- SCOT deficiency [Disease (Nov.)]
- Succinyl-CoA:3-oxoacid CoA transferase deficiency [ORDO Disease]
- Succinyl-CoA:3-oxoacid CoA transferase deficiency [MeSH concept]
- Succinyl-CoA:3-oxoacid CoA transferase deficiency [MeSH Supplementary Concept]
- Succinyl-coa:3-oxoacid-coa transferase deficiency [OMIM Phenotype]
- Succinyl-coenzyme A acetoacetate transferase deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- SCOT deficiency [Disease (Nov.)]
- Succinyl-CoA:3-oxoacid CoA transferase deficiency [MeSH concept]
- Succinyl-CoA:3-oxoacid CoA transferase deficiency [MeSH Supplementary Concept]
- 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]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients