Neuronal ceroid lipofuscinosis 8   703526007

SNOMED CT code


SNOMED code703526007
nameNeuronal ceroid lipofuscinosis 8
statusactive
date introduced2014-07-31
fully specified name(s)Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
synonyms
  • Progressive epilepsy with mental retardation
  • Northern epilepsy
  • Neuronal ceroid lipofuscinosis 8
  • Progressive epilepsy-intellectual disability syndrome Finnish type
attributes - group1
Associated morphologyDegenerative abnormality   107669003
Finding siteNervous system structure   25087005
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
attributes - group2
Clinical courseProgressive   255314001
attributes - group3
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group4
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Chronic nervous system disorder   128283000
  • Chronic metabolic disorder   128289001
  • Developmental hereditary disorder   363070008
  • Neuronal ceroid lipofuscinosis   42012007
  • Autosomal recessive hereditary disorder   85995004
  • Congenital degeneration of nervous system   95477007
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
          Neuronal ceroid lipofuscinosis 8   703526007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic nervous system disorder   128283000
          Neuronal ceroid lipofuscinosis 8   703526007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic metabolic disorder   128289001
          Neuronal ceroid lipofuscinosis 8   703526007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Neuronal ceroid lipofuscinosis 8   703526007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Neuronal ceroid lipofuscinosis   42012007
          Neuronal ceroid lipofuscinosis 8   703526007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Neuronal ceroid lipofuscinosis 8   703526007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Congenital degeneration of nervous system   95477007
          Neuronal ceroid lipofuscinosis 8   703526007

ancestors
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