SNOMED CT Concept  138875005

Clinical finding  404684003

Musculoskeletal finding  106028002

Disorder of musculoskeletal system  928000

Disorder of skeletal system  88230002

Skeletal dysplasia  105986008

Metaphyseal chondrodysplasia   28681006

SNOMED CT code


SNOMED code28681006
nameMetaphyseal chondrodysplasia
statusactive
date introduced2002-01-31
fully specified name(s)Metaphyseal chondrodysplasia (disorder)
synonyms
  • Metaphyseal chondrodysplasia
  • Metaphyseal dysostosis
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
attributes - group2
InterpretsHeight / growth measure   271603002
parents
  • Skeletal dysplasia   105986008
  • Congenital malformation syndromes associated with short stature   205808005
  • Congenital anomaly of skeletal bone   8447006
children
  • Acroscyphodysplasia   389162001
  • Goldblatt syndrome   717823001
  • Leukoencephalopathy with metaphyseal chondrodysplasia syndrome   719405005
  • Metaphyseal anadysplasia   254085009
  • Metaphyseal chondrodysplasia Kaitila type   770909004
  • Metaphyseal chondrodysplasia, Jansen type   24629003
  • Metaphyseal chondrodysplasia, McKusick type   7720002
  • Metaphyseal chondrodysplasia, Schmid type   29248006
  • Metaphyseal chondrodysplasia, Sedaghatian type   389163006
  • Metaphyseal chondrodysplasia, Spahr type   254084008
  • Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome   733419006
  • Richieri Costa-da Silva syndrome   782941005
  • Shwachman syndrome   89454001
  • Spondyloenchondrodysplasia   254079002
  • Spondyloepimetaphyseal disorder   254062008
  • Ulna metaphyseal dysplasia syndrome   715242008
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
            Metaphyseal chondrodysplasia   28681006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Congenital malformation syndromes associated with short stature   205808005
            Metaphyseal chondrodysplasia   28681006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Metaphyseal chondrodysplasia   28681006

ancestors
sorted most to least specific
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