Rothmund-Thomson syndrome   69093006

SNOMED CT code


SNOMED code69093006
nameRothmund-Thomson syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Rothmund-Thomson syndrome (disorder)
synonyms
  • Rothmund-Thomson syndrome
  • Poikiloderma congenitale syndrome
  • Poikiloderma congenitale
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteSkin structure   39937001
Associated morphologyPoikiloderma   70114006
parents
  • Multiple malformation syndrome with senile-like appearance   12674005
  • Genodermatosis   239001006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Poikiloderma   402685001
  • Hereditary cancer-predisposing syndrome   699346009
children
hierarchies
a selection of possible paths
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 senile-like appearance   12674005
                Rothmund-Thomson syndrome   69093006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Congenital anomaly of integument   38164009
          Congenital anomaly of skin   199879009
            Genodermatosis   239001006
              Rothmund-Thomson syndrome   69093006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Rothmund-Thomson syndrome   69093006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Rothmund-Thomson syndrome   69093006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative skin disorder   396325007
          Atrophic condition of skin   400190005
            Poikiloderma   402685001
              Rothmund-Thomson syndrome   69093006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Hereditary cancer-predisposing syndrome   699346009
            Rothmund-Thomson syndrome   69093006

ancestors
sorted most to least specific
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