Rubinstein-Taybi syndrome   45582004

SNOMED CT code


SNOMED code45582004
nameRubinstein-Taybi syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Rubinstein-Taybi syndrome (disorder)
synonymsRubinstein-Taybi syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
attributes - group2
InterpretsHeight / growth measure   271603002
parents
  • Developmental hereditary disorder   363070008
  • Multiple malformation syndrome, small stature, without skeletal dysplasia   41483000
  • Hereditary cancer-predisposing syndrome   699346009
childrenPort-wine stain in Rubinstein-Taybi syndrome   403765001
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Rubinstein-Taybi syndrome   45582004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Congenital malformation syndromes associated with short stature   205808005
            Multiple malformation syndrome, small stature, without skeletal dysplasia   41483000
              Rubinstein-Taybi syndrome   45582004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Hereditary cancer-predisposing syndrome   699346009
            Rubinstein-Taybi syndrome   45582004

ancestors
sorted most to least specific
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