Craniofacial deafness hand syndrome   702362004

SNOMED CT code


SNOMED code702362004
nameCraniofacial deafness hand syndrome
statusactive
date introduced2014-07-31
fully specified name(s)Craniofacial deafness hand syndrome (disorder)
synonyms
  • Craniofacial deafness hand syndrome
  • Sommer Young Wee Frye syndrome
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteHand structure   85562004
attributes - group2
Finding siteFace structure   89545001
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
attributes - group3
Finding siteAuditory structure   91159003
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
attributes - group4
InterpretsHearing   47078008
parents
  • Autosomal dominant hereditary disorder   11164009
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Congenital anomaly of hand   34111000
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Congenital sensorineural hearing loss   700453005
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Craniofacial deafness hand syndrome   702362004

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
            Craniofacial deafness hand syndrome   702362004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Finding of hand region   116311003
          Disorder of hand   118933004
            Congenital anomaly of hand   34111000
              Craniofacial deafness hand syndrome   702362004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Craniofacial deafness hand syndrome   702362004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Craniofacial deafness hand syndrome   702362004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital sensorineural hearing loss   700453005
            Craniofacial deafness hand syndrome   702362004

ancestors
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