Rhizomelic dysplasia   1263463009

SNOMED CT code


SNOMED code1263463009
nameRhizomelic dysplasia
statusactive
date introduced2023-02-28
fully specified name(s)Rhizomelic dysplasia (disorder)
synonymsRhizomelic dysplasia
attributes - group2
InterpretsLimb length   164835000
Has interpretationBelow reference range   281300000
attributes - group1
OccurrenceCongenital   255399007
Finding siteBone structure of extremity   48566001
Associated morphologyDysplasia   25723000
Pathological processPathological developmental process   308490002
parents
children
  • Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome   1229999001
  • Autosomal recessive spondylometaphyseal dysplasia Megarbane type   782782004
  • Axial spondylometaphyseal dysplasia   771301002
  • Bone dysplasia lethal Holmgren type   732249002
  • Cleidorhizomelic syndrome   719471002
  • Colobomatous microphthalmia, rhizomelic dysplasia syndrome   764942005
  • Langer mesomelic dysplasia syndrome   38494008
  • Multiple epiphyseal dysplasia Lowry type   768935003
  • Omodysplasia   725164008
  • Regressive spondylometaphyseal dysplasia   1237412001
  • Rhizomelic dysplasia Patterson Lowry type   715505002
  • Rhizomelic syndrome Urbach type   770948004
  • Smith McCort dysplasia   715862006
  • Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome   773300008
  • Thoracic dysplasia and hydrocephalus syndrome   782951006
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
            Rhizomelic dysplasia   1263463009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Rhizomelic dysplasia   1263463009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Rhizomelic dysplasia   1263463009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Congenital dysplasia of limb   88631000119105
            Rhizomelic dysplasia   1263463009

ancestors
sorted most to least specific
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