Cono-spondylar dysplasia   766874001

SNOMED CT code


SNOMED code766874001
nameCono-spondylar dysplasia
statusactive
date introduced2018-07-31
fully specified name(s)Cono-spondylar dysplasia (disorder)
synonyms
  • Cono-spondylar dysplasia
  • Short stature, kyphosis, hypoplasia of basal ilia-cone epiphyses, facial dysmorphism syndrome
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteDigit structure   82680008
Associated morphologyAbnormally short growth   11182007
attributes - group3
InterpretsHeight / growth measure   271603002
parents
  • Spondyloepimetaphyseal disorder   254062008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Brachydactyly   43476002
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
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
              Spondyloepimetaphyseal disorder   254062008
                Cono-spondylar dysplasia   766874001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Cono-spondylar dysplasia   766874001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Cono-spondylar dysplasia   766874001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with limb defect as major feature   41443008
                Cono-spondylar dysplasia   766874001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Deformity of limb   445144002
        Longitudinal deficiency of part of limb   716638009
          Brachydactyly   43476002
            Cono-spondylar dysplasia   766874001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Cono-spondylar dysplasia   766874001

ancestors
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