Upper limb defect with eye and ear abnormalities syndrome   716110002

SNOMED CT code


SNOMED code716110002
nameUpper limb defect with eye and ear abnormalities syndrome
statusactive
date introduced2016-07-31
fully specified name(s)Upper limb defect with eye and ear abnormalities syndrome (disorder)
synonymsUpper limb defect with eye and ear abnormalities syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteEar structure   117590005
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteEye structure   81745001
parents
  • Congenital anomaly of eye   19416009
  • Congenital malformation of ear   275259005
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the visual system   363343008
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Congenital anomaly of visual system   127329003
          Congenital anomaly of eye   19416009
            Upper limb defect with eye and ear abnormalities syndrome   716110002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of sensory organ   1279550006
        Disorder of ear   25906001
          Congenital malformation of ear   275259005
            Upper limb defect with eye and ear abnormalities syndrome   716110002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Upper limb defect with eye and ear abnormalities syndrome   716110002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Upper limb defect with eye and ear abnormalities syndrome   716110002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Upper limb defect with eye and ear abnormalities syndrome   716110002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with limb defect as major feature   41443008
                Upper limb defect with eye and ear abnormalities syndrome   716110002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Upper limb defect with eye and ear abnormalities syndrome   716110002

ancestors
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