Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome   721089006

SNOMED CT code


SNOMED code721089006
nameDentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
synonymsDentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteDentin structure   84540008
attributes - group4
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteFace structure   89545001
OccurrenceCongenital   255399007
attributes - group3
Finding siteAuditory structure   91159003
attributes - group5
InterpretsHeight / growth measure   271603002
attributes - group6
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group7
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group2
InterpretsHearing   47078008
parents
  • Intellectual disability   110359009
  • Dentinogenesis imperfecta   196286005
  • Hearing loss associated with syndrome   232333009
  • Short stature disorder   237836003
  • Auditory system hereditary disorder   362991006
  • Sensorineural hearing loss   60700002
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome   721089006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Dentinogenesis imperfecta   196286005
            Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome   721089006

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
              Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome   721089006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome   721089006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome   721089006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Sensorineural hearing loss   60700002
              Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome   721089006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome   721089006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome   721089006

ancestors
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