Ichthyosis, oral and digital anomalies syndrome   732950006

SNOMED CT code


SNOMED code732950006
nameIchthyosis, oral and digital anomalies syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Ichthyosis, oral and digital anomalies syndrome (disorder)
synonyms
  • Ichthyosis, oral and digital anomalies syndrome
  • Clayton-Smith Donnai syndrome
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
Finding siteDigit structure   82680008
OccurrenceCongenital   255399007
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteFace structure   89545001
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyHyperkeratosis   26996000
Finding siteEntire skin   181469002
OccurrenceCongenital   255399007
attributes - group4
InterpretsKeratinization   44138005
Has interpretationAbnormal   263654008
parents
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Autosomal recessive ichthyosis   402772005
  • Congenital anomaly of digit   403855001
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Multiple malformation syndrome with facial-limb defects as major feature   23359005
            Ichthyosis, oral and digital anomalies syndrome   732950006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Skin finding   106076001
        Rough skin   816995008
          Congenital ichthyosis of skin   13059002
            Autosomal recessive ichthyosis   402772005
              Ichthyosis, oral and digital anomalies syndrome   732950006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Disorder of digit   128597007
          Congenital anomaly of digit   403855001
            Ichthyosis, oral and digital anomalies syndrome   732950006

ancestors
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