Schilbach Rott syndrome   721902002

SNOMED CT code


SNOMED code721902002
nameSchilbach Rott syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Schilbach Rott syndrome (disorder)
synonyms
  • Schilbach Rott syndrome
  • Hypotelorism, cleft palate, hypospadias syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteDigit structure   82680008
Associated morphologyCongenital abnormal fusion   37764001
OccurrenceCongenital   255399007
attributes - group2
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
parents
  • Autosomal dominant hereditary disorder   11164009
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Developmental hereditary disorder   363070008
  • Syndactyly   373413006
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Schilbach Rott syndrome   721902002

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
            Schilbach Rott syndrome   721902002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Schilbach Rott syndrome   721902002

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
            Syndactyly   373413006
              Schilbach Rott syndrome   721902002

ancestors
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