SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Genetic disease  782964007

Hereditary disease  32895009

Autosomal hereditary disorder  1899006

Autosomal dominant hereditary disorder  11164009

KBG syndrome   711156009

SNOMED CT code


SNOMED code711156009
nameKBG syndrome
statusactive
date introduced2015-07-31
fully specified name(s)Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder)
synonyms
  • Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome
  • KBG syndrome
  • Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group2
InterpretsHeight / growth measure   271603002
parents
  • Autosomal dominant hereditary disorder   11164009
  • Congenital malformation syndromes associated with short stature   205808005
  • Developmental hereditary disorder   363070008
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
              KBG syndrome   711156009

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
            KBG syndrome   711156009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          KBG syndrome   711156009

ancestors
sorted most to least specific
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