Osteogenesis imperfecta   78314001

SNOMED CT code


SNOMED code78314001
nameOsteogenesis imperfecta
statusactive
date introduced2002-01-31
fully specified name(s)Osteogenesis imperfecta (disorder)
synonyms
  • Osteogenesis imperfecta
  • Osteopsathyrosis
  • Fragilitas ossium
  • Brittle bone syndrome
  • Brittle bone disease
  • OI - Osteogenesis imperfecta
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
attributes - group2
Has interpretationAbnormal   263654008
InterpretsBone formation   83323007
parents
children
  • Ehlers-Danlos and osteogenesis imperfecta syndrome   733457006
  • Feline osteogenesis imperfecta   44876001  removed: 2014-01-31
  • Fragilitas ossium congenita   278454001  removed: 2003-01-31
  • High bone mass osteogenesis imperfecta   782781006
  • Osteogenesis imperfecta - unclassifiable   205495007  removed: 2003-01-31
  • Osteogenesis imperfecta NOS   205498009  removed: 2010-01-31
  • Osteogenesis imperfecta type 5   1003379004
  • Osteogenesis imperfecta type I   385482004
  • Osteogenesis imperfecta type III   385483009
  • Osteogenesis imperfecta with normal sclerae, dominant form   205497004
  • Osteogenesis imperfecta with progressive deformity AND normal sclerae   54625007  removed: 2003-01-31
  • Osteogenesis imperfecta, perinatal lethal   205496008
  • Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome   722110003
  • Osteoporosis with pseudoglioma   254112001
  • Osteopsathyrosis   205494006  removed: 2003-01-31
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
            Osteogenesis imperfecta   78314001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Abnormal bone formation   36123008
        Osteogenesis imperfecta   78314001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Osteogenesis imperfecta   78314001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Osteogenesis imperfecta   78314001

ancestors
sorted most to least specific
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