beta ketothiolase deficiency

Preferred Label : beta ketothiolase deficiency;

MeSH synonym : mitochondrial Acetoacetyl-CoA thiolase deficiency; 3-oxothiolase deficiency; alpha-methylacetoaceticaciduria; 2-methyl-3-hydroxybutyricacidemia; 3-ketothiolase deficiency; Alpha-Methylacetoacetic aciduria; 2-Methyl-3-Hydroxybutyric acidemia; Beta-Ketothiolase deficiency; 3-Alpha-Ketothiolase deficiency; 3-Alpha-Ktd deficiency; 3-Alpha-Oxothiolase deficiency; 3-Methylhydroxybutyric acidemia; mitochondrial 2-Methylacetoacetyl-Coa thiolase deficiency - potassium stimulated; T2 deficiency; B-Ketothiolase deficiency; 2-Alpha-Methyl-3-Hydroxybutyricacidemia;

Details

Origin ID

C535434;

UMLS CUI

C1536500;

Automatic exact mappings (from CISMeF team)
- Deficiency of acetyl-coenzyme A acyltransferase (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Alpha-Methylacetoacetic Aciduria [NCIt concept]
- Alpha-methylacetoacetic aciduria [OMIM Phenotype]
- Beta ketothiolase deficiency [MedDRA Preferred Term]
- Beta-ketothiolase deficiency [ORDO Disease]
- Ketoacidosis due to beta-ketothiolase deficiency [ICD-11 More detail]
- Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) [SNOMED CT concept]
- beta-ketothiolase deficiency [DO Concept]
MeSH term(s) associated for indexing
- Acetyl-CoA C-Acyltransferase [MeSH Descriptor]
- amino acid metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- Beta ketothiolase deficiency [MeSH concept]
See also inter- (CISMeF)
- Deficiency of acetyl-coenzyme A acyltransferase (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acetoacetyl-CoA thiolase deficiency [ICD-11 More detail]
- Alpha-Methylacetoacetic Aciduria [NCIt concept]
- Alpha-methylacetoacetic aciduria [OMIM Phenotype]
- Beta ketothiolase deficiency [MedDRA Preferred Term]
- Beta-ketothiolase deficiency [ORDO Disease]
- Deficiency of acetyl-coenzyme A acetyltransferase (disorder) [SNOMED CT concept]
- Ketoacidosis due to beta-ketothiolase deficiency [ICD-11 More detail]
- Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Acetoacetyl-CoA thiolase deficiency [ICD-11 More detail]
- Deficiency of acetyl-coenzyme A acetyltransferase (disorder) [SNOMED CT concept]

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