Spondyloepiphyseal dysplasia congenita   278713008

SNOMED CT code


SNOMED code278713008
nameSpondyloepiphyseal dysplasia congenita
statusactive
date introduced2002-01-31
fully specified name(s)Spondyloepiphyseal dysplasia congenita group (disorder)
synonyms
  • Spondyloepiphyseal dysplasia congenita
  • SED - Spondyloepiphyseal dysplasia
  • SEDC - Spondyloepiphyseal dysplasia congenita
  • Spondyloepiphyseal dysplasia
  • Spondyloepiphyseal dysplasia congenita group
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
Finding siteBone structure   272673000
OccurrenceCongenital   255399007
parents
children
  • Achondrogenesis, type II   254061001
  • Hypochondrogenesis   205483007
  • Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis   715670004
  • Mild spondyloepiphyseal dysplasia with premature onset arthrosis   389159004
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome   22567005
  • Schwartz-Jampel syndrome   29145002
  • Spondyloepiphyseal dysplasia Cantu type   718765003
  • Spondyloepiphyseal dysplasia Kimberley type   719203001
  • Spondyloepiphyseal dysplasia MacDermot type   718763005
  • Spondyloepiphyseal dysplasia Maroteaux type   719204007
  • Spondyloepiphyseal dysplasia Reardon type   718764004
  • Spondyloepiphyseal dysplasia Stanescu type   1228860003
  • Spondyloepiphyseal dysplasia with joint laxity   389160009
  • Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome   718766002
  • Stickler syndrome type 3   783097004
  • X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome   1217228004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Disorder of skeletal system   88230002
          Skeletal dysplasia   105986008
            Spondyloepiphyseal dysplasia congenita   278713008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Spondyloepiphyseal dysplasia congenita   278713008

ancestors
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