Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome   782757004

SNOMED CT code


SNOMED code782757004
nameCongenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
statusactive
date introduced2019-07-31
fully specified name(s)Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (disorder)
synonyms
  • Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
  • Asparagine synthetase deficiency
attributes - group2
Associated morphologyCongenital smallness   41086002
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteHead structure   69536005
attributes - group1
Finding siteCerebrum   83678007
Associated morphologyAtrophy   13331008
attributes - group3
Has interpretationBelow reference range   281300000
InterpretsBirth head circumference   169876006
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Hereditary degenerative disease of central nervous system   106018006
  • Intellectual disability   110359009
  • Congenital microcephaly   1148758003
  • Inherited metabolic disorder of nervous system   128190004
  • Global developmental delay   224958001
  • Cerebral atrophy   278849000
  • Developmental hereditary disorder   363070008
  • Inborn error of amino acid metabolism   42930003
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disease of the central nervous system   80690008
          Hereditary degenerative disease of central nervous system   106018006
            Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome   782757004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome   782757004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Congenital microcephaly   1148758003
            Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome   782757004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome   782757004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Global developmental delay   224958001
            Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome   782757004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disease of the central nervous system   80690008
          Degenerative brain disorder   52522001
            Cerebral degeneration   418143002
              Cerebral atrophy   278849000
                Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome   782757004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome   782757004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inborn error of amino acid metabolism   42930003
            Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome   782757004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome   782757004

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