Acro-oto-ocular syndrome   720410001

SNOMED CT code


SNOMED code720410001
nameAcro-oto-ocular syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Acrootoocular syndrome (disorder)
synonyms
  • Acro-oto-ocular syndrome
  • Acrootoocular syndrome
  • Pseudopapilledema, blepharophimosis and hand anomaly syndrome
  • Pseudopapilloedema, blepharophimosis and hand anomaly syndrome
attributes - group2
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteFace structure   89545001
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteLimb structure   66019005
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteOptic disc structure   81016008
parents
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Inherited optic neuropathy   312942003
  • Developmental hereditary disorder   363070008
  • Pseudopapilledema   57138009
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Multiple malformation syndrome with facial-limb defects as major feature   23359005
            Acro-oto-ocular syndrome   720410001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Inherited optic neuropathy   312942003
            Acro-oto-ocular syndrome   720410001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Acro-oto-ocular syndrome   720410001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Optic disc finding   247201009
        Optic disc disorder   128331005
          Pseudopapilledema   57138009
            Acro-oto-ocular syndrome   720410001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Acro-oto-ocular syndrome   720410001

ancestors
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