Multiple congenital exostosis   254044004

SNOMED CT code


SNOMED code254044004
nameMultiple congenital exostosis
statusactive
date introduced2002-01-31
fully specified name(s)Multiple congenital exostosis (disorder)
synonyms
  • Hereditary multiple exostosis
  • Osteochondromatosis syndrome
  • Osteochondromatosis
  • Diaphyseal aclasia
  • Multiple osteochondromatosis
  • Multiple exostoses type I
  • Multiple congenital exostosis
attributes - group2
Pathological processPathological developmental process   308490002
Finding siteCartilage structure   771314001
OccurrenceCongenital   255399007
Associated morphologyDysplasia   25723000
attributes - group1
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
Associated morphologyOsteochondromatosis   66467005
parents
  • Autosomal dominant hereditary disorder   11164009
  • Disorganized development of cartilaginous and fibrous components of the skeleton   254140006
  • Connective tissue hereditary disorder   363045008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Disorder characterized by multiple exostoses   410063006
  • Osteochondropathy   77881008
  • Neoplasm of uncertain behavior of bone   94765005
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Multiple congenital exostosis   254044004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Congenital connective tissue disorder   363039000
          Congenital anomaly of cartilage   67988000
            Disorganized development of cartilaginous and fibrous components of the skeleton   254140006
              Multiple congenital exostosis   254044004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Connective tissue hereditary disorder   363045008
          Multiple congenital exostosis   254044004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Multiple congenital exostosis   254044004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Multiple congenital exostosis   254044004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Disorder of bone   76069003
          Disorder characterized by multiple exostoses   410063006
            Multiple congenital exostosis   254044004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Cartilage finding   118954006
        Cartilage disorder   50927007
          Osteochondropathy   77881008
            Multiple congenital exostosis   254044004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Disorder of bone   76069003
          Neoplasm of bone   126537000
            Neoplasm of uncertain behavior of bone   94765005
              Multiple congenital exostosis   254044004

ancestors
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