Congenital cataract with deafness and hypogonadism syndrome   722378009

SNOMED CT code


SNOMED code722378009
nameCongenital cataract with deafness and hypogonadism syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Congenital cataract with deafness and hypogonadism syndrome (disorder)
synonyms
  • Congenital cataract with deafness and hypogonadism syndrome
  • Schaap Taylor Baraitser syndrome
attributes - group2
OccurrenceCongenital   255399007
Finding siteGonadal endocrine structure   304041004
Pathological processPathological developmental process   308490002
attributes - group1
OccurrenceCongenital   255399007
Finding siteLens clear   78076003
Pathological processPathological developmental process   308490002
Associated morphologyOpacity   128305008
attributes - group3
Finding siteAuditory structure   91159003
attributes - group4
InterpretsHearing   47078008
parents
  • Intellectual disability   110359009
  • Auditory system hereditary disorder   362991006
  • Hereditary disorder of endocrine system   363104002
  • Reproductive system hereditary disorder   363290007
  • Hereditary disorder of the visual system   363343008
  • Hypogonadism   48130008
  • Sensorineural hearing loss   60700002
  • Congenital cataract   79410001
  • Multiple system malformation syndrome   82354003
  • Autosomal recessive hereditary disorder   85995004
  • Congenital hearing disorder   95827002
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Mental disorder   74732009
        Developmental mental disorder   129104009
          Intellectual disability   110359009
            Congenital cataract with deafness and hypogonadism syndrome   722378009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Ear and auditory finding   118236001
        Disorder of auditory system   362966006
          Auditory system hereditary disorder   362991006
            Congenital cataract with deafness and hypogonadism syndrome   722378009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Hereditary disorder of endocrine system   363104002
          Congenital cataract with deafness and hypogonadism syndrome   722378009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Hereditary disorder by system   363137000
            Reproductive system hereditary disorder   363290007
              Congenital cataract with deafness and hypogonadism syndrome   722378009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Eye / vision finding   118235002
        Visual system disorder   128127008
          Hereditary disorder of the visual system   363343008
            Congenital cataract with deafness and hypogonadism syndrome   722378009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of body system   362965005
          Disorder of endocrine system   362969004
            Disorder of endocrine gonad   127345001
              Hypogonadism   48130008
                Congenital cataract with deafness and hypogonadism syndrome   722378009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Clinical history and observation findings   250171008
      Functional finding   118228005
        Hearing finding   118230007
          Hearing disorder   128540005
            Hearing loss   15188001
              Sensorineural hearing loss   60700002
                Congenital cataract with deafness and hypogonadism syndrome   722378009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disorder of eye   62585004
          Cataract   193570009
            Congenital cataract   79410001
              Congenital cataract with deafness and hypogonadism syndrome   722378009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Congenital cataract with deafness and hypogonadism syndrome   722378009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Congenital cataract with deafness and hypogonadism syndrome   722378009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital cataract with deafness and hypogonadism syndrome   722378009

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