Duane retraction syndrome with congenital deafness   1230014007

SNOMED CT code


SNOMED code1230014007
nameDuane retraction syndrome with congenital deafness
statusactive
date introduced2022-05-31
fully specified name(s)Duane retraction syndrome with congenital deafness (disorder)
synonyms
  • Duane retraction syndrome with congenital deafness
  • Duane retraction syndrome with congenital hearing loss
attributes - group4
InterpretsHearing   47078008
Has interpretationDecreased   1250004
attributes - group1
OccurrenceCongenital   255399007
Finding siteAbducens nerve structure   80622005
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding siteEye structure   81745001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group3
OccurrenceCongenital   255399007
Finding siteAuditory structure   91159003
parents
  • Decreased hearing   103276001
  • Autosomal dominant hereditary disorder   11164009
  • Duane's syndrome, type 3   128084001
  • Hearing loss associated with syndrome   232333009
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of nervous system   363235000
  • Hereditary disorder of the visual system   363343008
  • Congenital hearing disorder   95827002
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Decreased hearing   103276001
          Duane retraction syndrome with congenital deafness   1230014007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Duane retraction syndrome with congenital deafness   1230014007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of head and neck region   118254002
      Congenital anomaly of nervous system of head/neck   287080001
        Duane's syndrome   60318001
          Duane's syndrome, type 3   128084001
            Duane retraction syndrome with congenital deafness   1230014007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Hearing loss associated with syndrome   232333009
              Duane retraction syndrome with congenital deafness   1230014007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Duane retraction syndrome with congenital deafness   1230014007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Duane retraction syndrome with congenital deafness   1230014007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            Duane retraction syndrome with congenital deafness   1230014007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Duane retraction syndrome with congenital deafness   1230014007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Duane retraction syndrome with congenital deafness   1230014007

ancestors
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