Waardenburg syndrome type 3   237918004

SNOMED CT code


SNOMED code237918004
nameWaardenburg syndrome type 3
statusactive
date introduced2002-01-31
fully specified name(s)Waardenburg syndrome type 3 (disorder)
synonyms
  • Klein-Waardenberg syndrome
  • Klein-Waardenberg's syndrome
  • Waardenburg syndrome type 3
  • Waardenburg syndrome type III
  • Waardenburg syndrome with limb anomalies
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
Finding siteLimb structure   66019005
OccurrenceCongenital   255399007
attributes - group4
InterpretsHearing   47078008
Has interpretationDecreased   1250004
attributes - group2
Finding siteSkin structure   39937001
Associated morphologyHypopigmentation   89031001
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group3
OccurrenceCongenital   255399007
Finding siteAuditory structure   91159003
attributes - group5
OccurrenceCongenital   255399007
Finding siteMedial canthus structure   70339009
Associated morphologyLateral displacement   37068007
Pathological processPathological developmental process   308490002
parents
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Waardenburg's syndrome   47434006
  • Congenital anomaly of limb   60475009
  • Congenital sensorineural hearing loss   700453005
  • Dystopia canthorum   726407000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with limb defect as major feature   41443008
                Waardenburg syndrome type 3   237918004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Decreased hearing   103276001
          Waardenburg's syndrome   47434006
            Waardenburg syndrome type 3   237918004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Waardenburg syndrome type 3   237918004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital sensorineural hearing loss   700453005
            Waardenburg syndrome type 3   237918004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Eyelid finding   246812007
        Lid margin finding   246845007
          Medial canthus finding   386659002
            Dystopia canthorum   726407000
              Waardenburg syndrome type 3   237918004

ancestors
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