Odontotrichomelic syndrome   239028001

SNOMED CT code


SNOMED code239028001
nameOdontotrichomelic syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Odontotrichomelic syndrome (disorder)
synonyms
  • Odontotrichomelic syndrome
  • Freire-Maia syndrome
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteEctoderm structure   63206006
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteTooth structure   38199008
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteHair structure   386045008
OccurrenceCongenital   255399007
attributes - group4
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
Finding siteNail unit structure   770802007
OccurrenceCongenital   255399007
attributes - group5
InterpretsSweating   415691001
Has interpretationAbnormal   263654008
parents
  • Hereditary disorder of tooth   1148766007
  • Ectodermal dysplasia with hair-tooth-nail-sweating defect   239006001
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Genetic disorder of nail   402775007
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Hereditary disorder of tooth   1148766007
            Odontotrichomelic syndrome   239028001

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
            Ectodermal dysplasia with tooth-nail-sweating defect   399974001
              Ectodermal dysplasia with hair-tooth-nail-sweating defect   239006001
                Odontotrichomelic syndrome   239028001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Odontotrichomelic syndrome   239028001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Odontotrichomelic syndrome   239028001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Genetic disorder of nail   402775007
          Odontotrichomelic syndrome   239028001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with limb defect as major feature   41443008
                Odontotrichomelic syndrome   239028001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Odontotrichomelic syndrome   239028001

ancestors
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