Achondroplasia   86268005

SNOMED CT code


SNOMED code86268005
nameAchondroplasia
statusactive
date introduced2002-01-31
fully specified name(s)Achondroplasia (disorder)
synonyms
  • Achondroplasia
  • Chondrodystrophia fetalis
  • Achondroplastic dwarf
  • Osteosclerosis congenita
  • Congenital osteosclerosis
  • Achondroplastic dwarfism
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyHypoplasia   55199003
Finding siteStructure of epiphysis   43719000
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyDysplasia   25723000
Finding siteBone structure   272673000
attributes - group1
InterpretsHeight / growth measure   271603002
parents
childrenSevere achondroplasia, developmental delay, acanthosis nigricans syndrome   874931001
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
              Achondroplasia   86268005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Chondrodysplasia   205465004
              Achondroplasia   86268005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Disorder of skeletal system   88230002
          Skeletal dysplasia   105986008
            Achondrogenesis   2391001
              Achondroplasia   86268005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Disorder of bone   76069003
          Disorder of epiphysis   240172008
            Achondroplasia   86268005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Achondroplasia   86268005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Achondroplasia   86268005

ancestors
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