Deaf blind hypopigmentation syndrome Yemenite type   721084001

SNOMED CT code


SNOMED code721084001
nameDeaf blind hypopigmentation syndrome Yemenite type
statusactive
date introduced2017-01-31
fully specified name(s)Deaf blind hypopigmentation syndrome Yemenite type (disorder)
synonyms
  • Deaf blind hypopigmentation syndrome Yemenite type
  • Warburg Thomsen syndrome
attributes - group1
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Finding siteEye structure   81745001
Pathological processPathological developmental process   308490002
attributes - group2
Finding siteSkin structure   39937001
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyHypopigmentation   89031001
attributes - group4
InterpretsHearing   47078008
attributes - group3
Finding siteAuditory structure   91159003
parents
  • Congenital anomaly of eye   19416009
  • Congenital deficiency of pigment of skin   1953005
  • Hearing loss associated with syndrome   232333009
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Hereditary disorder of the visual system   363343008
  • Genetic disorder of skin pigmentation   724839001
  • Multiple system malformation syndrome   82354003
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Congenital anomaly of visual system   127329003
          Congenital anomaly of eye   19416009
            Deaf blind hypopigmentation syndrome Yemenite type   721084001

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
              Deaf blind hypopigmentation syndrome Yemenite type   721084001

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
              Deaf blind hypopigmentation syndrome Yemenite type   721084001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Deaf blind hypopigmentation syndrome Yemenite type   721084001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Deaf blind hypopigmentation syndrome Yemenite type   721084001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Deaf blind hypopigmentation syndrome Yemenite type   721084001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Deaf blind hypopigmentation syndrome Yemenite type   721084001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Genetic disorder of skin pigmentation   724839001
          Deaf blind hypopigmentation syndrome Yemenite type   721084001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Deaf blind hypopigmentation syndrome Yemenite type   721084001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Deaf blind hypopigmentation syndrome Yemenite type   721084001

ancestors
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