Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome   773398005

SNOMED CT code


SNOMED code773398005
nameCongenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder)
synonyms
  • Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
  • Congenital cataract, progressive muscular hypotonia, deafness, developmental delay syndrome
attributes - group1
OccurrenceCongenital   255399007
Finding siteLens clear   78076003
Pathological processPathological developmental process   308490002
Associated morphologyOpacity   128305008
attributes - group5
InterpretsMuscle tone   6918002
attributes - group2
Finding siteSkeletal muscle structure   127954009
OccurrenceCongenital   255399007
attributes - group3
Finding siteAuditory structure   91159003
OccurrenceCongenital   255399007
attributes - group4
InterpretsHearing   47078008
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Mitochondrial cytopathy   240096000
          Mitochondrial myopathy   16851005
            Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome   773398005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome   773398005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome   773398005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome   773398005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome   773398005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome   773398005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Poor muscle tone   398152000
        Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome   773398005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital sensorineural hearing loss   700453005
            Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome   773398005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disorder of eye   62585004
          Cataract   193570009
            Congenital cataract   79410001
              Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome   773398005

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, progressive muscular hypotonia, hearing loss, developmental delay syndrome   773398005

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