Congenital cataract, hearing loss, severe developmental delay syndrome   773648002

SNOMED CT code


SNOMED code773648002
nameCongenital cataract, hearing loss, severe developmental delay syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)
synonyms
  • Congenital cataract, hearing loss, severe developmental delay syndrome
  • Congenital cataract, deafness, severe developmental delay syndrome
  • Lethal neurodegenerative disorder due to copper transport defect
attributes - group1
OccurrenceCongenital   255399007
Finding siteEar structure   117590005
attributes - group3
OccurrenceCongenital   255399007
Finding siteLens clear   78076003
Pathological processPathological developmental process   308490002
Associated morphologyOpacity   128305008
attributes - group4
InterpretsHearing   47078008
attributes - group2
OccurrenceCongenital   255399007
Finding siteNervous system structure   25087005
parents
  • Inherited metabolic disorder of nervous system   128190004
  • Hearing loss associated with syndrome   232333009
  • Developmental delay   248290002
  • Disorder of ear   25906001
  • Auditory system hereditary disorder   362991006
  • Hereditary disorder of the visual system   363343008
  • Congenital sensorineural hearing loss   700453005
  • Congenital cataract   79410001
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Congenital cataract, hearing loss, severe developmental delay syndrome   773648002

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
              Hearing loss associated with syndrome   232333009
                Congenital cataract, hearing loss, severe developmental delay syndrome   773648002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Congenital cataract, hearing loss, severe developmental delay syndrome   773648002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of head   118934005
          Disorder of ear   25906001
            Congenital cataract, hearing loss, severe developmental delay syndrome   773648002

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, hearing loss, severe developmental delay syndrome   773648002

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, hearing loss, severe developmental delay syndrome   773648002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital sensorineural hearing loss   700453005
            Congenital cataract, hearing loss, severe developmental delay syndrome   773648002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disorder of eye   62585004
          Cataract   193570009
            Congenital cataract   79410001
              Congenital cataract, hearing loss, severe developmental delay syndrome   773648002

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, hearing loss, severe developmental delay syndrome   773648002

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