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

Inborn error of pyruvate metabolism  53210006

Pyruvate dehydrogenase complex deficiency   46683007

SNOMED CT code


SNOMED code46683007
namePyruvate dehydrogenase complex deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Pyruvate dehydrogenase complex deficiency (disorder)
synonyms
  • Deficiency of pyruvate dehydrogenase (cytochrome)
  • Deficiency of pyruvic dehydrogenase
  • Ataxia with lactic acidosis
  • PDH - Pyruvate dehydrogenase deficiency
  • Pyruvate dehydrogenase deficiency
  • Pyruvate dehydrogenase complex deficiency
  • PDH deficiency
  • Ataxia with lactic acidosis I
attributes - group1
OccurrenceCongenital   255399007
parents
children
  • Pyruvate dehydrogenase complex E1 beta subunit deficiency   1003851001
  • Pyruvate dehydrogenase complex E1-alpha subunit deficiency   1003850000
  • Pyruvate dehydrogenase complex E2 subunit deficiency   1003849000
  • Pyruvate dehydrogenase phosphatase deficiency   1003847003
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
            Inborn error of pyruvate metabolism   53210006
              Pyruvate dehydrogenase complex deficiency   46683007

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
                    Pyruvate dehydrogenase complex deficiency   46683007

ancestors
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