Oculocerebrodental syndrome   1255268002

SNOMED CT code


SNOMED code1255268002
nameOculocerebrodental syndrome
statusactive
date introduced2022-10-31
fully specified name(s)Oculocerebrodental syndrome (disorder)
synonyms
  • Oculocerebrodental syndrome
  • Oculo-cerebro-dental syndrome
attributes - group6
InterpretsBody height measure   50373000
Has interpretationBelow reference range   281300000
attributes - group1
OccurrenceCongenital   255399007
Finding siteLens clear   78076003
Associated morphologyOpacity   128305008
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
Associated morphologyImpaired mineralization   128416000
Pathological processPathological developmental process   308490002
attributes - group3
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
Pathological processPathological developmental process   308490002
attributes - group4
OccurrenceCongenital   255399007
Finding siteTooth structure   38199008
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group5
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group7
OccurrenceCongenital   255399007
Finding siteCerebrum   83678007
parents
  • Hereditary disorder of tooth   1148766007
  • Short stature disorder   237836003
  • Developmental delay   248290002
  • Dysplasia with defective mineralization   254117007
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of nervous system   363235000
  • Hereditary disorder of the visual system   363343008
  • Congenital anomaly of tooth   422977003
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Congenital cataract   79410001
  • Disorder of brain   81308009
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Hereditary disorder of tooth   1148766007
            Oculocerebrodental syndrome   1255268002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Oculocerebrodental syndrome   1255268002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Oculocerebrodental syndrome   1255268002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Dysplasia with defective mineralization   254117007
              Oculocerebrodental syndrome   1255268002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Oculocerebrodental syndrome   1255268002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Oculocerebrodental syndrome   1255268002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            Oculocerebrodental syndrome   1255268002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Oculocerebrodental syndrome   1255268002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Finding of mouth region   423066003
        Oral cavity finding   116337000
          Congenital abnormality of oral cavity   282041002
            Congenital anomaly of tooth   422977003
              Oculocerebrodental syndrome   1255268002

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
              Oculocerebrodental syndrome   1255268002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disorder of eye   62585004
          Cataract   193570009
            Congenital cataract   79410001
              Oculocerebrodental syndrome   1255268002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Disorder of brain   81308009
          Oculocerebrodental syndrome   1255268002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Oculocerebrodental syndrome   1255268002

ancestors
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