Koolen De Vries syndrome   717338006

SNOMED CT code


SNOMED code717338006
nameKoolen De Vries syndrome
statusactive
date introduced2016-07-31
fully specified name(s)Koolen De Vries syndrome (disorder)
synonymsKoolen De Vries syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteChromosome pair 17   45201007
Associated morphologyCellular AND/OR subcellular abnormality   107673000
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
  • Developmental delay   248290002
  • Anomaly of chromosome pair 17   32107005
  • Developmental hereditary disorder   363070008
  • Multiple malformation syndrome with facial defects as major feature   65094009
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
              Koolen De Vries syndrome   717338006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Koolen De Vries syndrome   717338006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chromosomal disorder   409709004
        Congenital chromosomal disease   74345006
          Anomaly of chromosome pair   362984008
            Anomaly of chromosome pair 17   32107005
              Koolen De Vries syndrome   717338006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Koolen De Vries syndrome   717338006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              Koolen De Vries syndrome   717338006

ancestors
sorted most to least specific
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