SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Metabolic disease  75934005

Disorder of organic acid metabolism  116021002

Disorder of amino acid metabolism  44779003

Disorder of amino acid and organic acid metabolism  237911005

Disorder of branched-chain amino acid metabolism  116020001

Deficiency of acetyl-CoA acetyltransferase   124258007

SNOMED CT code


SNOMED code124258007
nameDeficiency of acetyl-CoA acetyltransferase
statusactive
date introduced2002-01-31
fully specified name(s)Deficiency of acetyl-coenzyme A acetyltransferase (disorder)
synonyms
  • Acetoacetyl-CoA thiolase deficiency
  • 3-Ketothiolase deficiency
  • Deficiency of acetoacetyl-CoA thiolase
  • Deficiency of acetyl-CoA acetyltransferase
  • alpha-Methylacetoacetic aciduria
  • 3-Methylhydroxybutyric acidaemia
  • 3-Methylhydroxybutyric acidemia
  • Deficiency of acetyl-coenzyme A acetyltransferase
parents
  • Disorder of branched-chain amino acid metabolism   116020001
  • Deficiency of transferase   124237001
children
  • Cytosolic acetoacetyl-CoA thiolase deficiency   237955004
  • Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - non-potassium stimulated   237954000
  • Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated   237953006
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of organic acid metabolism   116021002
          Disorder of amino acid metabolism   44779003
            Disorder of amino acid and organic acid metabolism   237911005
              Disorder of branched-chain amino acid metabolism   116020001
                Deficiency of acetyl-CoA acetyltransferase   124258007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Specific enzyme deficiency   129456006
            Deficiency of transferase   124237001
              Deficiency of acetyl-CoA acetyltransferase   124258007

ancestors
sorted most to least specific
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