Spondyloepimetaphyseal dysplasia with joint laxity Beighton type   1286833006

SNOMED CT code


SNOMED code1286833006
nameSpondyloepimetaphyseal dysplasia with joint laxity Beighton type
statusactive
date introduced2023-07-31
fully specified name(s)Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
synonyms
  • Spondyloepimetaphyseal dysplasia with joint laxity Beighton type
  • SEMDJL1 - spondyloepimetaphyseal dysplasia with joint laxity type 1
  • Spondyloepimetaphyseal dysplasia with joint laxity type 1
attributes - group5
Clinical courseProgressive   255314001
attributes - group3
InterpretsBody height measure   50373000
Has interpretationBelow reference range   281300000
attributes - group4
InterpretsRange of joint movement   364564000
Has interpretationIncreased   35105006
attributes - group1
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding siteBone structure of vertebra   420345000
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group6
Finding siteJoint structure   39352004
parents
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 with joint laxity Beighton type   1286833006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of movement   298325004
      Finding of joint movement   298179002
        Finding of range of joint movement   298180004
          Range of joint movement increased   298181000
            Spondyloepimetaphyseal dysplasia with joint laxity Beighton type   1286833006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Joint finding   118952005
        Joint laxity   298203008
          Spondyloepimetaphyseal dysplasia with joint laxity Beighton type   1286833006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Finding of vertebra   298385001
          Spondyloepimetaphyseal dysplasia with joint laxity Beighton type   1286833006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Spondyloepimetaphyseal dysplasia with joint laxity Beighton type   1286833006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Spondyloepimetaphyseal dysplasia with joint laxity Beighton type   1286833006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of musculoskeletal system   128237006
          Chronic arthropathy   38850007
            Spondyloepimetaphyseal dysplasia with joint laxity Beighton type   1286833006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of movement   298325004
      Movement disorder   60342002
        Spondyloepimetaphyseal dysplasia with joint laxity Beighton type   1286833006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Vertebral column finding   119414006
        Disorder of vertebral column   699699005
          Spondyloepimetaphyseal dysplasia with joint laxity Beighton type   1286833006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of back   414252009
      Finding of spinal region   298379008
        Disorder of spinal region   410730009
          Congenital anomaly of vertebral region of back   699943005
            Congenital anomaly of spine   74877002
              Spondyloepimetaphyseal dysplasia with joint laxity Beighton type   1286833006

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 with joint laxity Beighton type   1286833006

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