Oto-palato-digital syndrome, type I   54036001

SNOMED CT code


SNOMED code54036001
nameOto-palato-digital syndrome, type I
statusactive
date introduced2002-01-31
fully specified name(s)Oto-palato-digital syndrome, type I (disorder)
synonyms
  • Oto-palato-digital syndrome, type I
  • Taybi syndrome
attributes - group4
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group5
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteLimb structure   66019005
attributes - group2
Pathological processPathological developmental process   308490002
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyDevelopmental failure of fusion   371520008
Finding sitePalatal structure   72914001
OccurrenceCongenital   255399007
attributes - group6
InterpretsHearing   47078008
Has interpretationImpaired   260379002
attributes - group1
OccurrenceCongenital   255399007
Finding siteEar structure   117590005
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Oto-palato-digital syndrome, type I   54036001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Oto-palato-digital syndrome, type I   54036001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of sensory organ   1279550006
        Disorder of ear   25906001
          Conductive hearing loss   44057004
            Oto-palato-digital syndrome, type I   54036001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Oto-palato-digital syndrome, type I   54036001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Otopalatodigital syndrome spectrum disorder   784010006
            Oto-palato-digital syndrome, type I   54036001

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
              Oto-palato-digital syndrome, type I   54036001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Oto-palato-digital syndrome, type I   54036001

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