Kohlschutter's syndrome   109478007

SNOMED CT code


SNOMED code109478007
nameKohlschutter's syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Kohlschutter's syndrome (disorder)
synonyms
  • Amelocerebrohypohidrotic syndrome
  • Kohlschutter syndrome
  • Kohlschutter's syndrome
  • Epilepsy, dementia and amelogenesis imperfecta
  • Epilepsy, mental deterioration and yellow teeth
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteEnamel structure   76993005
attributes - group3
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteSkin structure   39937001
attributes - group4
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
Finding siteEctoderm structure   63206006
OccurrenceCongenital   255399007
attributes - group5
InterpretsSweating   415691001
Has interpretationAbnormal   263654008
attributes - group6
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group7
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group1
Finding siteBrain structure   12738006
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
          Kohlschutter's syndrome   109478007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Finding of sweating   297978007
        Ectodermal dysplasia with sweating defect   239048008
          Ectodermal dysplasia with tooth-sweating defect   239042009
            Kohlschutter's syndrome   109478007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Kohlschutter's syndrome   109478007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            Kohlschutter's syndrome   109478007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Amelogenesis imperfecta   78494001
            Kohlschutter's syndrome   109478007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Seizure   91175000
          Seizure disorder   128613002
            Epilepsy   84757009
              Kohlschutter's syndrome   109478007

ancestors
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