Congenital neuronal ceroid lipofuscinosis   720830009

SNOMED CT code


SNOMED code720830009
nameCongenital neuronal ceroid lipofuscinosis
statusactive
date introduced2017-01-31
fully specified name(s)Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)
synonyms
  • Congenital neuronal ceroid lipofuscinosis
  • Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D
  • Neuronal ceroid lipofuscinosis due to cathepsin D deficiency
  • Neuronal ceroid lipofuscinosis 10
  • Cathepsin D deficient neuronal ceroid lipofuscinosis
attributes - group2
Associated morphologyDegenerative abnormality   107669003
OccurrenceCongenital   255399007
Finding siteNervous system structure   25087005
attributes - group1
Due toDeficiency of cathepsin D   720831008
parents
  • Neuronal ceroid lipofuscinosis   42012007
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Neuronal ceroid lipofuscinosis   42012007
          Congenital neuronal ceroid lipofuscinosis   720830009

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 neuronal ceroid lipofuscinosis   720830009

ancestors
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