Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth   412787009

SNOMED CT code


SNOMED code412787009
nameIntellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
statusactive
date introduced2004-07-31
fully specified name(s)Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)
synonyms
  • Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
  • Ohdo blepharophimosis syndrome
  • Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteHeart structure   80891009
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyNarrowed structure   25659002
Finding siteStructure of palpebral fissure   595000
OccurrenceCongenital   255399007
attributes - group4
Pathological processPathological developmental process   308490002
Associated morphologyDeformity   6081001
OccurrenceCongenital   255399007
Finding siteEyelid structure   80243003
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyHypoplasia   55199003
Finding siteTooth structure   38199008
OccurrenceCongenital   255399007
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Congenital heart disease   13213009
  • Congenital anomaly of tooth   422977003
  • Blepharophimosis, intellectual disability syndrome   788584007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Heart disease   56265001
          Structural disorder of heart   128599005
            Congenital heart disease   13213009
              Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth   412787009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Finding of mouth region   423066003
        Oral cavity finding   116337000
          Congenital abnormality of oral cavity   282041002
            Congenital anomaly of tooth   422977003
              Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth   412787009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Deformity of eyelid   430960001
        Blepharophimosis, intellectual disability syndrome   788584007
          Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth   412787009

ancestors
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