Acetoacetyl-CoA thiolase deficiency

Preferred Label : Acetoacetyl-CoA thiolase deficiency;

ICD-11 definition : This is a rare, autosomal recessive metabolic disorder in which the body cannot properly process the amino acid isoleucine or the products of lipid breakdown.;

Details

Origin ID

979821944;

UMLS CUI

C1536500;

Currated CISMeF NLP mapping
- Deficiency of acetyl-coenzyme A acetyltransferase (disorder) [SNOMED CT 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]
Validated automatic mappings to BTNT
- 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]
- beta ketothiolase deficiency [MeSH Supplementary Concept]
- beta-ketothiolase deficiency [DO Concept]

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