Congenital anomaly of bone and joint   237513002

SNOMED CT code


SNOMED code237513002
nameCongenital anomaly of bone and joint
statusactive
date introduced2002-01-31
fully specified name(s)Congenital anomaly of bone and joint (disorder)
synonymsCongenital anomaly of bone and joint
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteJoint structure   39352004
OccurrenceCongenital   255399007
parents
  • Congenital anomaly of skeletal bone   8447006
  • Congenital anomaly of joint   95463009
children
  • Antley-Bixler syndrome   62964007
  • Baller-Gerold syndrome   77608001
  • Bifid mandibular condyle   708669006
  • Boomerang dysplasia   254054000
  • Brachydactyly and distal symphalangism syndrome   732956000
  • Capra DeMarco syndrome   720815000
  • Cloverleaf skull, asphyxiating thoracic dysplasia syndrome   783181006
  • Congenital absence of left mandibular condyle   736782000
  • Congenital absence of right mandibular condyle   736781007
  • Congenital dislocation of radial head   9634000
  • Congenital glenoid dysplasia   2111000119106
  • Congenital hip dysplasia   52781008
  • Congenital vertical talus of left foot   1078181000119105
  • Congenital vertical talus of right foot   1078171000119107
  • Craniofacial dyssynostosis syndrome   720755009
  • Craniofrontonasal dysplasia with Poland anomaly syndrome   720757001
  • Craniorhiny   784350004
  • Craniosynostosis fibular aplasia syndrome   732250002
  • Craniosynostosis Philadelphia type   720818003
  • Craniosynostosis, microretrognathia, severe intellectual disability syndrome   1269224009
  • External auditory canal atresia, vertical talus, hypertelorism syndrome   783774006
  • Familial scaphocephaly syndrome McGillivray type   725030006
  • FGFR2-related bent bone dysplasia   778008009
  • Genu recurvatum and long leg bone bowing   268243008
  • Hallux varus, preaxial polysyndactyly syndrome   771180005
  • Hip dysplasia Beukes type   721148005
  • Humerus trochlea aplasia   732928005
  • Hypermobile Ehlers-Danlos syndrome   30652003
  • Internasal dysostosis   109407001
  • Madelung's deformity   4530000
  • Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome   723442008
  • Occipital encephalocele   42376006
  • Scaphoid-lunate synostosis   205278001
  • Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type   1286834000
  • Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome   718766002
  • Stickler syndrome   78675000
  • Trigonocephaly   28740008
  • Triphalangeal thumb and dislocation of patella syndrome   733456002
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Congenital anomaly of bone and joint   237513002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Joint finding   118952005
        Arthropathy   399269003
          Congenital anomaly of joint   95463009
            Congenital anomaly of bone and joint   237513002

ancestors
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