Thickened earlobe with conductive deafness syndrome   722476007

SNOMED CT code


SNOMED code722476007
nameThickened earlobe with conductive deafness syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Thickened earlobe with conductive deafness syndrome (disorder)
synonyms
  • Thickened earlobe with conductive deafness syndrome
  • Escher Hirt syndrome
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBone structure of mandible   91609006
Associated morphologyHypoplasia   55199003
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyCongenital smallness   41086002
Finding siteExternal ear structure   28347008
attributes - group3
InterpretsHearing   47078008
parents
  • Congenital anomaly of ear with impairment of hearing   111339003
  • Autosomal dominant hereditary disorder   11164009
  • Congenital micrognathism   32958008
  • Microtia   35045004
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Conductive hearing loss   44057004
  • Multiple malformation syndrome with facial defects as major feature   65094009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital anomaly of ear with impairment of hearing   111339003
            Thickened earlobe with conductive deafness syndrome   722476007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Thickened earlobe with conductive deafness syndrome   722476007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of jaw   37156001
          Congenital anomaly of jaw   95473006
            Congenital anomaly of mandible   128224008
              Congenital micrognathism   32958008
                Thickened earlobe with conductive deafness syndrome   722476007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of sensory organ   1279550006
        Disorder of ear   25906001
          Congenital malformation of ear   275259005
            Congenital abnormality of external ear   282038006
              Microtia   35045004
                Thickened earlobe with conductive deafness syndrome   722476007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Thickened earlobe with conductive deafness syndrome   722476007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Thickened earlobe with conductive deafness syndrome   722476007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Thickened earlobe with conductive deafness syndrome   722476007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of sensory organ   1279550006
        Disorder of ear   25906001
          Conductive hearing loss   44057004
            Thickened earlobe with conductive deafness syndrome   722476007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              Thickened earlobe with conductive deafness syndrome   722476007

ancestors
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