Cleft palate, large ears, small head syndrome   763130006

SNOMED CT code


SNOMED code763130006
nameCleft palate, large ears, small head syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Cleft palate, large ears, small head syndrome (disorder)
synonyms
  • Cleft palate, large ears, small head syndrome
  • Say Barber Hobbs syndrome
attributes - group1
Associated morphologyEnlargement   442021009
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteEntire external ear   420893000
attributes - group5
InterpretsHeight / growth measure   271603002
Has interpretationBelow reference range   281300000
attributes - group4
InterpretsBirth head circumference   169876006
Has interpretationBelow reference range   281300000
attributes - group2
Finding siteHead structure   69536005
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyCongenital smallness   41086002
attributes - group3
Associated morphologyDevelopmental failure of fusion   371520008
OccurrenceCongenital   255399007
Finding sitePalatal structure   72914001
Pathological processPathological developmental process   308490002
parents
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
              Cleft palate, large ears, small head syndrome   763130006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Congenital microcephaly   1148758003
            Cleft palate, large ears, small head syndrome   763130006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Cleft palate, large ears, small head syndrome   763130006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Cleft palate, large ears, small head syndrome   763130006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Cleft palate, large ears, small head syndrome   763130006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of sensory organ   1279550006
        Disorder of ear   25906001
          Congenital malformation of ear   275259005
            Congenital abnormality of external ear   282038006
              Macrotia   69056000
                Cleft palate, large ears, small head syndrome   763130006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Cleft palate, large ears, small head syndrome   763130006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of head and neck region   118254002
      Head finding   406122000
        Finding of head region   298364001
          Orofacial cleft   449790007
            Cleft palate   87979003
              Cleft palate, large ears, small head syndrome   763130006

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