Spondyloepimetaphyseal dysplasia matrilin-3 type   719166003

SNOMED CT code


SNOMED code719166003
nameSpondyloepimetaphyseal dysplasia matrilin-3 type
statusactive
date introduced2017-01-31
fully specified name(s)Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
synonymsSpondyloepimetaphyseal dysplasia matrilin-3 type
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
attributes - group2
InterpretsHeight / growth measure   271603002
parents
  • Spondyloepimetaphyseal disorder   254062008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • 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
                Spondyloepimetaphyseal dysplasia matrilin-3 type   719166003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Spondyloepimetaphyseal dysplasia matrilin-3 type   719166003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Spondyloepimetaphyseal dysplasia matrilin-3 type   719166003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Spondyloepimetaphyseal dysplasia matrilin-3 type   719166003

ancestors
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