SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Congenital disease  66091009

Inborn error of metabolism  86095007

Disorder of pyruvate metabolism and mitochondrial respiratory chain  237981000

Dihydrolipoamide dehydrogenase deficiency   29914000

SNOMED CT code


SNOMED code29914000
nameDihydrolipoamide dehydrogenase deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Dihydrolipoamide dehydrogenase deficiency (disorder)
synonyms
  • Maple syrup urine disease, type III
  • Deficiency of diaphorase
  • Cytochrome-b reductase deficiency
  • Deficiency of dihydrolipoamide dehydrogenase
  • Lactic acidosis due to LAD deficiency
  • DLD - Dihydrolipoamide dehydrogenase deficiency
  • Deficiency of lipoamide reductase (NADH)
  • Diaphorase deficiency
  • Dihydrolipoyl dehydrogenase deficiency
  • Lipoamide dehydrogenase deficiency
  • Dihydrolipoamide dehydrogenase deficiency
  • Congenital infantile lactic acidosis due to LAD deficiency
  • Maple syrup urine disease with lactic acidosis
attributes - group1
OccurrenceCongenital   255399007
parents
  • Disorder of pyruvate metabolism and mitochondrial respiratory chain   237981000
  • Maple syrup urine disease   27718001
  • Lactic acidosis   91273001
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Disorder of pyruvate metabolism and mitochondrial respiratory chain   237981000
            Dihydrolipoamide dehydrogenase deficiency   29914000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Maple syrup urine disease   27718001
            Dihydrolipoamide dehydrogenase deficiency   29914000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of acid-base balance   26436007
          Acidosis   51387008
            Metabolic acidosis   59455009
              Metabolic acidosis, increased anion gap (IAG)   25998009
                Metabolic acidosis, IAG, accumulation of organic acids   51294009
                  Lactic acidosis   91273001
                    Dihydrolipoamide dehydrogenase deficiency   29914000

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