Pendred's syndrome   70348004

SNOMED CT code


SNOMED code70348004
namePendred's syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Pendred's syndrome (disorder)
synonyms
  • Pendred's syndrome
  • Hypothyroidism with sensorineural deafness
  • Thyroid hormone organification defect II B
  • Goiter-deafness syndrome
  • Genetic defect in thyroid hormonogenesis II B
  • GDTH IIB
  • Goitre-deafness syndrome
  • Pendred syndrome
attributes - group3
InterpretsHearing   47078008
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteVestibular apparatus   181188003
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
attributes - group4
OccurrenceCongenital   255399007
Finding siteThyroid structure   69748006
attributes - group2
Associated morphologyEnlargement   442021009
Finding siteEntire thyroid gland   181117000
parents
  • Congenital anomaly of ear with impairment of hearing   111339003
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Inherited disorder of thyroid metabolism   36985004
  • Goiter   3716002
  • Congenital sensorineural hearing loss   700453005
  • Autosomal recessive hereditary disorder   85995004
  • Congenital anomaly of vestibule of inner ear   897574006
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital anomaly of ear with impairment of hearing   111339003
            Pendred's syndrome   70348004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Pendred's syndrome   70348004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Pendred's syndrome   70348004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of neck   118939000
        Disorder of thyroid gland   14304000
          Inherited disorder of thyroid metabolism   36985004
            Pendred's syndrome   70348004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Viscus structure finding   406123005
      Goiter   3716002
        Pendred's syndrome   70348004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital sensorineural hearing loss   700453005
            Pendred's syndrome   70348004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Pendred's syndrome   70348004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of head and neck region   118254002
      Head finding   406122000
        Finding of head region   298364001
          Vestibular system finding   439161008
            Labyrinthine disorder   20425006
              Structural anomaly of the cochlea and vestibular labyrinth   232298004
                Congenital anomaly of vestibule of inner ear   897574006
                  Pendred's syndrome   70348004

ancestors
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