SNOMED CT Concept  138875005

Clinical finding  404684003

Functional finding  118228005

Hearing finding  118230007

Decreased hearing  103276001

Waardenburg's syndrome   47434006

SNOMED CT code


SNOMED code47434006
nameWaardenburg's syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Waardenburg syndrome (disorder)
synonyms
  • Waardenburg syndrome
  • Waardenburg's syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyHypopigmentation   89031001
OccurrenceCongenital   255399007
Finding siteSkin structure   39937001
attributes - group3
InterpretsHearing   47078008
Has interpretationDecreased   1250004
attributes - group2
Finding siteAuditory structure   91159003
OccurrenceCongenital   255399007
parents
  • Decreased hearing   103276001
  • Congenital deficiency of pigment of skin   1953005
  • Hearing loss associated with syndrome   232333009
  • Genetic disorder of skin pigmentation   724839001
  • Multiple system malformation syndrome   82354003
  • Congenital hearing disorder   95827002
children
  • Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease   765325002
  • Waardenburg Shah syndrome   715952000
  • Waardenburg syndrome type 1   1010606009
  • Waardenburg syndrome type 2   1010636000
  • Waardenburg syndrome type 3   1010638004  removed: 2022-10-31
  • Waardenburg syndrome type 3   237918004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Decreased hearing   103276001
          Waardenburg's syndrome   47434006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of pigmentation   414032001
        Disorder of skin pigmentation   46690002
          Skin hypopigmented   23006000
            Congenital deficiency of pigment of skin   1953005
              Waardenburg's syndrome   47434006

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
              Waardenburg's syndrome   47434006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Genetic disorder of skin pigmentation   724839001
          Waardenburg's syndrome   47434006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Waardenburg's syndrome   47434006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Waardenburg's syndrome   47434006

ancestors
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cpt crosswalks

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