Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency   782828005

SNOMED CT code


SNOMED code782828005
nameDevelopmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
statusactive
date introduced2019-07-31
fully specified name(s)Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder)
synonyms
  • Developmental delay due to ALDH6A1 (aldehyde dehydrogenase 6 family member A1) deficiency
  • Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
  • Developmental delay due to MMSDH (methylmalonate semialdehyde dehydrogenase) deficiency
attributes - group1
Pathological processPathological developmental process   308490002
attributes - group2
Due toMethylmalonate semialdehyde dehydrogenase deficiency   1293015005
parents
  • Disorder of branched-chain amino acid metabolism   116020001
  • Global developmental delay   224958001
  • Developmental hereditary disorder   363070008
  • Autosomal recessive hereditary disorder   85995004
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
                Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency   782828005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Global developmental delay   224958001
            Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency   782828005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency   782828005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency   782828005

ancestors
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