Craniosynostosis fibular aplasia syndrome   732250002

SNOMED CT code


SNOMED code732250002
nameCraniosynostosis fibular aplasia syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Craniosynostosis fibular aplasia syndrome (disorder)
synonyms
  • Craniosynostosis fibular aplasia syndrome
  • Lowry syndrome
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteStructure of coronal suture of skull   29012004
Associated morphologyCongenital premature fusion   67798003
attributes - group2
Pathological processPathological developmental process   308490002
Finding siteEntire fibula   302529003
Associated morphologyAgenesis   782173000
OccurrenceCongenital   255399007
parents
  • Agenesis of fibula   1003546000
  • Congenital anomaly of bone and joint   237513002
  • Finding of head region   298364001
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Craniosynostosis syndrome   57219006
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Bone absent   298350001
          Congenital absence of skeletal bone   127328006
            Congenital absence of fibula   74245009
              Agenesis of fibula   1003546000
                Craniosynostosis fibular aplasia syndrome   732250002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Congenital anomaly of bone and joint   237513002
              Craniosynostosis fibular aplasia syndrome   732250002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of head and neck region   118254002
      Head finding   406122000
        Finding of head region   298364001
          Craniosynostosis fibular aplasia syndrome   732250002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Craniosynostosis fibular aplasia syndrome   732250002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Craniosynostosis fibular aplasia syndrome   732250002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with limb defect as major feature   41443008
                Craniosynostosis fibular aplasia syndrome   732250002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Joint finding   118952005
        Cranial suture finding   248387005
          Imperfect fusion of skull   23939000
            Craniosynostosis syndrome   57219006
              Craniosynostosis fibular aplasia syndrome   732250002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Craniosynostosis fibular aplasia syndrome   732250002

ancestors
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