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 siteBone structure of radius and/or ulna   299701004
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
Finding siteBone structure   272673000
parents
  • Disorder of forearm   128132009
  • Deformity of bone   271084006
  • Congenital deformity   276655000
  • Bowing of upper limb   449713008
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Congenital anomaly of upper limb   66510004
  • Spondylometaphyseal dysplasia   784006008
  • Congenital anomaly of skeletal bone   8447006
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of extremity   128605003
          Disorder of upper extremity   118947000
            Disorder of forearm   128132009
              Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome   782913006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Deformity of bone   271084006
        Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome   782913006

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

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Bowing deformity of bone   298360005
        Bowing of upper limb   449713008
          Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome   782913006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        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
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of extremity   128605003
          Congenital anomaly of limb   60475009
            Congenital anomaly of upper limb   66510004
              Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome   782913006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Musculoskeletal finding   106028002
        Disorder of musculoskeletal system   928000
          Hereditary disorder of musculoskeletal system   363212003
            Spondylometaphyseal dysplasia   784006008
              Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome   782913006

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