Neuronal ceroid lipofuscinosis   42012007

SNOMED CT code


SNOMED code42012007
nameNeuronal ceroid lipofuscinosis
statusactive
date introduced2002-01-31
fully specified name(s)Neuronal ceroid lipofuscinosis (disorder)
synonyms
  • Neuronal ceroid lipofuscinosis
  • Cerebromacular degeneration
  • Cerebromacular dystrophy
  • Pigmentary retinal lipoid neuronal heredodegeneration
attributes - group1
Associated morphologyDegenerative abnormality   107669003
attributes - group2
OccurrenceCongenital   255399007
attributes - group3
Finding siteNervous system structure   25087005
parents
children
  • Adult neuronal ceroid lipofuscinosis   62009002
  • ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis   789657008
  • Congenital neuronal ceroid lipofuscinosis   720830009
  • Infantile neuronal ceroid lipofuscinosis   58258004
  • Juvenile neuronal ceroid lipofuscinosis   61663001
  • Neuronal ceroid lipofuscinosis 8   703526007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Neuronal ceroid lipofuscinosis   42012007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Disorder of lysosomal enzyme   23585005
          Lipofuscinosis   14210003
            Neuronal ceroid lipofuscinosis   42012007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Lysosomal storage disease   28821000119102
            Neuronal ceroid lipofuscinosis   42012007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Neuronal ceroid lipofuscinosis   42012007

ancestors
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cpt crosswalks

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