Ophthalmo-acromelic syndrome   703403003

SNOMED CT code


SNOMED code703403003
nameOphthalmo-acromelic syndrome
statusactive
date introduced2014-07-31
fully specified name(s)Ophthalmo-acromelic syndrome (disorder)
synonyms
  • Anophthalmos with limb anomalies
  • Anophthalmia-syndactyly
  • Syndactyly-anophthalmos syndrome
  • Ophthalmoacromelic syndrome
  • Anophthalmia-Waardenburg syndrome
  • Waardenburg anophthalmia syndrome
  • Microphthalmia with limb anomalies
  • Anophthalmos-limb anomalies syndrome
  • Ophthalmo-acromelic syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteEye structure   81745001
parents
  • Congenital anomaly of eye   19416009
  • 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
            Ophthalmo-acromelic syndrome   703403003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Ophthalmo-acromelic syndrome   703403003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Ophthalmo-acromelic syndrome   703403003

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
                Ophthalmo-acromelic syndrome   703403003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Ophthalmo-acromelic syndrome   703403003

ancestors
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