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 - group4
Has interpretationImpaired   260379002
InterpretsHearing   47078008
attributes - group3
OccurrenceCongenital   255399007
Finding siteAuditory structure   91159003
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Hearing loss associated with syndrome   232333009
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of endocrine system   363104002
  • Reproductive system hereditary disorder   363290007
  • Hereditary disorder of the visual system   363343008
  • Hypogonadism   48130008
  • Congenital sensorineural hearing loss   700453005
  • Congenital cataract   79410001
  • Multiple system malformation syndrome   82354003
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Congenital cataract with deafness and hypogonadism syndrome   722378009

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
              Congenital cataract with deafness and hypogonadism syndrome   722378009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    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
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Congenital cataract with deafness and hypogonadism syndrome   722378009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of endocrine system   362969004
          Hereditary disorder of endocrine system   363104002
            Congenital cataract with deafness and hypogonadism syndrome   722378009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        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
    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
    Disease   64572001
      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
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital sensorineural hearing loss   700453005
            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

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