Chondrodysplasia punctata   278715001

SNOMED CT code


SNOMED code278715001
nameChondrodysplasia punctata
statusactive
date introduced2002-01-31
fully specified name(s)Chondrodysplasia punctata (stippled epiphyses) group (disorder)
synonyms
  • Chondrodysplasia punctata
  • Chondrodysplasia punctata (stippled epiphyses) group
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
parents
children
  • Brachytelephalangic chondrodysplasia punctata   778067002
  • Chondrodysplasia punctata   205486004  removed: 2011-01-31
  • Chondrodysplasia punctata due to maternal autoimmune disease   890437007
  • Chondrodysplasia punctata Toriello type   715631005
  • Chondrodysplasia punctata, Conradi-Hünermann type   398719004
  • Chondrodysplasia punctata, MT type   254083002
  • Chondrodysplasia punctata, X-linked dominant type   398958000
  • Chondrodysplasia punctata, X-linked recessive type   254082007
  • Hyperphosphatasia-osteoectasia syndrome   76556008
  • Lissencephaly type 3 metacarpal bone dysplasia syndrome   718720007
  • Rhizomelic chondrodysplasia punctata syndrome   56692003
  • X-linked dominant chondrodysplasia punctata of Happle   403778001  removed: 2021-09-30
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
            Chondrodysplasia punctata   278715001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Chondrodysplasia punctata   278715001

ancestors
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