Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome   1237418002

SNOMED CT code


SNOMED code1237418002
nameSpastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
statusactive
date introduced2022-09-30
fully specified name(s)Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome (disorder)
synonyms
  • Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
  • ASCT1 deficiency
  • Spastic quadriplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
attributes - group2
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group3
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group4
InterpretsHead circumference   363812007
Has interpretationBelow reference range   281300000
attributes - group1
OccurrenceCongenital   255399007
Finding siteCorpus callosum structure   88442005
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome   1237418002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome   1237418002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome   1237418002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of head and neck region   118254002
      Head finding   406122000
        Finding of head region   298364001
          Leukoencephalopathy   22811006
            Congenital malformation of corpus callosum   204042007
              Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome   1237418002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Global developmental delay   224958001
            Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome   1237418002

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 serine metabolism   303097007
                Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome   1237418002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome   1237418002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome   1237418002

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