Multiple carboxylase deficiency   1172966001

SNOMED CT code


SNOMED code1172966001
nameMultiple carboxylase deficiency
statusactive
date introduced2021-09-30
fully specified name(s)Multiple carboxylase deficiency (disorder)
synonymsMultiple carboxylase deficiency
attributes - group1
OccurrenceCongenital   255399007
parents
  • Specific enzyme deficiency   129456006
  • Disorder of amino acid and organic acid metabolism   237911005
  • Autosomal recessive hereditary disorder   85995004
  • Inborn error of metabolism   86095007
children
  • Biotinidase deficiency   8808004
  • Holocarboxylase synthase deficiency   360369003
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Specific enzyme deficiency   129456006
            Multiple carboxylase deficiency   1172966001

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
              Multiple carboxylase deficiency   1172966001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Multiple carboxylase deficiency   1172966001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Multiple carboxylase deficiency   1172966001

ancestors
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