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

SNOMED CT code


SNOMED code53210006
nameInborn error of pyruvate metabolism
statusactive
date introduced2002-01-31
fully specified name(s)Inborn error of pyruvate metabolism (disorder)
synonymsInborn error of pyruvate metabolism
attributes - group1
OccurrenceCongenital   255399007
parentsDisorder of pyruvate metabolism and mitochondrial respiratory chain   237981000
children
  • Mitochondrial pyruvate carrier deficiency   1217212009
  • Phosphoenolpyruvate carboxykinase (GTP) deficiency   5335002
  • Pyruvate carboxylase deficiency   87694001
  • Pyruvate dehydrogenase complex deficiency   46683007
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

ancestors
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