X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome   1167372000

SNOMED CT code


SNOMED code1167372000
nameX-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
statusactive
date introduced2021-09-30
fully specified name(s)X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)
synonymsX-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
attributes - group3
InterpretsHearing   47078008
Has interpretationImpaired   260379002
attributes - group1
OccurrenceCongenital   255399007
Finding siteEar structure   117590005
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
parents
  • Congenital anomaly of ear with impairment of hearing   111339003
  • X-linked recessive hereditary disease   1162976004
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • 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
            X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome   1167372000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked recessive hereditary disease   1162976004
                X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome   1167372000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome   1167372000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome   1167372000

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
              X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome   1167372000

ancestors
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