Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome   782913006

SNOMED CT code


SNOMED code782913006
nameSpondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
statusactive
date introduced2019-07-31
fully specified name(s)Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome (disorder)
synonymsSpondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
attributes - group3
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Finding siteFace structure   89545001
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyBowing deformity   34058006
Finding siteStructure of bone of forearm   299701004
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
Finding siteBone structure   272673000
parents
  • Congenital deformity of bone of forearm   1163579007
  • Bowing of upper limb   449713008
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Congenital bowing of long bone   716098006
  • Spondylometaphyseal dysplasia   784006008
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Deformation of bone   298356007
        Congenital deformity of bone of forearm   1163579007
          Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome   782913006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Deformity of upper limb   298747001
          Bowing of upper limb   449713008
            Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome   782913006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome   782913006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Congenital deformity   276655000
        Congenital bowing of long bone   716098006
          Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome   782913006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Spondylometaphyseal dysplasia   784006008
            Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome   782913006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome   782913006

ancestors
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