Spondyloenchondrodysplasia with immune dysregulation   703523004

SNOMED CT code


SNOMED code703523004
nameSpondyloenchondrodysplasia with immune dysregulation
statusactive
date introduced2014-07-31
fully specified name(s)Spondyloenchondrodysplasia with immune dysregulation (disorder)
synonyms
  • Roifman-Melamed syndrome
  • Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia
  • Spondyloenchondrodysplasia with immune dysregulation
  • Roifman-Costa syndrome
attributes - group1
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
attributes - group2
InterpretsHeight / growth measure   271603002
parents
  • Spondyloenchondrodysplasia   254079002
  • 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
              Spondyloenchondrodysplasia   254079002
                Spondyloenchondrodysplasia with immune dysregulation   703523004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Spondyloenchondrodysplasia with immune dysregulation   703523004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Spondyloenchondrodysplasia with immune dysregulation   703523004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Spondyloenchondrodysplasia with immune dysregulation   703523004

ancestors
sorted most to least specific
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