cytosolic acetoacetyl-CoA thiolase deficiency

Preferred Label : cytosolic acetoacetyl-CoA thiolase deficiency;

MeSH synonym : acetyl-coa acetyltransferase 2 deficiency; acetocoenzyme A acetyltransferase 2 deficiency; Acat2 deficiency;

Details

Origin ID

C536005;

UMLS CUI

C0342735;

Currated CISMeF NLP mapping
- Acetyl-coa acetyltransferase-2 deficiency [OMIM Phenotype]
- Cytosolic acetoacetyl-CoA thiolase deficiency [ICD-11 More detail]
- Cytosolic acetoacetyl-coenzyme A thiolase deficiency (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- Acetyl-CoA C-Acetyltransferase [MeSH Descriptor]
- lipid metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- Cytosolic acetoacetyl-CoA thiolase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acetyl-coa acetyltransferase-2 deficiency [OMIM Phenotype]
- Cytosolic acetoacetyl-CoA thiolase deficiency [ICD-11 More detail]
- Cytosolic acetoacetyl-coenzyme A thiolase deficiency (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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