Ketoacidosis due to beta-ketothiolase deficiency

Preferred Label : Ketoacidosis due to beta-ketothiolase deficiency;

ICD-11 definition : Ketoacidosis due to betaketothiolase deficiency is a ketolysis disorder characterized by normal early development followed by a progressive loss of mental and motor skills, intermittent ketoacidotic episodes, with no clinical symptoms between episodes. Ketoacidotic episodes are usually severe and sometimes accompanied by lethargy/coma.;

ICD-11 synonym : MAT - [Alpha methyl acetoacetyl-CoA thiolase] deficiency; MAT deficiency; Alpha methyl acetoacetyl-CoA thiolase deficiency; Mitochondrial 2-methylacetoacetyl-Coa thiolase deficiency, potassium-stimulated;

Details

Origin ID

2139994596;

UMLS CUI

C1536500;

Automatic exact mappings (from CISMeF team)
- Brain demyelination due to methionine adenosyltransferase deficiency [ORDO Disease]
- Hepatic methionine adenosyltransferase deficiency (disorder) [SNOMED CT concept]
- Methionine Adenosyltransferase Deficiency [NCIt concept]
- Methionine adenosyltransferase I/iii deficiency [OMIM Phenotype]
Currated CISMeF NLP mapping
- Alpha-Methylacetoacetic Aciduria [NCIt concept]
- Alpha-methylacetoacetic aciduria [OMIM Phenotype]
- Beta ketothiolase deficiency [MedDRA Preferred Term]
- Beta ketothiolase deficiency [MeSH concept]
- Beta-ketothiolase deficiency [ORDO Disease]
- Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) [SNOMED CT concept]
- beta ketothiolase deficiency [MeSH Supplementary Concept]
- beta-ketothiolase deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha-Methylacetoacetic Aciduria [NCIt concept]
- Alpha-methylacetoacetic aciduria [OMIM Phenotype]
- Beta ketothiolase deficiency [MedDRA Preferred Term]
- Beta ketothiolase deficiency [MeSH concept]
- Beta-ketothiolase deficiency [ORDO Disease]
- Deficiency of acetyl-coenzyme A acetyltransferase (disorder) [SNOMED CT concept]
- Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) [SNOMED CT concept]
- beta ketothiolase deficiency [MeSH Supplementary Concept]

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