Waardenburg Shah syndrome   715952000

SNOMED CT code


SNOMED code715952000
nameWaardenburg Shah syndrome
statusactive
date introduced2016-07-31
fully specified name(s)Waardenburg Shah syndrome (disorder)
synonyms
  • Waardenburg syndrome co-occurrent with Hirschsprung disease
  • Waardenburg Shah syndrome
  • Waardenburg Hirschsprung syndrome
  • Shah Waardenburg syndrome
  • Waardenburg syndrome type 4
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyHypertrophy   56246009
OccurrenceCongenital   255399007
Finding siteLarge intestine part   119214008
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyDilatation   25322007
OccurrenceCongenital   255399007
Finding siteLarge intestine part   119214008
attributes - group4
Pathological processPathological developmental process   308490002
Associated morphologyHypopigmentation   89031001
Finding siteSkin structure   39937001
OccurrenceCongenital   255399007
attributes - group5
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Finding siteAutonomic nerve structure   53520000
attributes - group6
InterpretsHearing   47078008
Has interpretationDecreased   1250004
attributes - group7
Finding siteStructure of peripheral part of autonomic nervous system   429921001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group3
Finding siteAuditory structure   91159003
OccurrenceCongenital   255399007
parents
  • Autosomal hereditary disorder   1899006
  • Hirschsprung's disease   204739008
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Digestive system hereditary disorder   363080007
  • Hereditary disorder of the integument   363185004
  • Waardenburg's syndrome   47434006
  • Congenital sensorineural hearing loss   700453005
  • Inherited autonomic nervous system disorder   722997000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Waardenburg Shah syndrome   715952000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Disorder of the peripheral nervous system   42658009
            Congenital anomaly of the peripheral nervous system   22133005
              Hirschsprung's disease   204739008
                Waardenburg Shah syndrome   715952000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Waardenburg Shah syndrome   715952000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Waardenburg Shah syndrome   715952000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Waardenburg Shah syndrome   715952000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Waardenburg Shah syndrome   715952000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Decreased hearing   103276001
          Waardenburg's syndrome   47434006
            Waardenburg Shah syndrome   715952000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital sensorineural hearing loss   700453005
            Waardenburg Shah syndrome   715952000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Disorder of autonomic nervous system   15241006
            Inherited autonomic nervous system disorder   722997000
              Waardenburg Shah syndrome   715952000

ancestors
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