Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome   722110003

SNOMED CT code


SNOMED code722110003
nameOsteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
synonyms
  • Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
  • Al Gazali Nair syndrome
attributes - group3
Pathological processPathological developmental process   308490002
Finding siteBrain structure   12738006
attributes - group2
Pathological processPathological developmental process   308490002
Finding siteRetinal structure   5665001
OccurrenceCongenital   255399007
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
attributes - group4
InterpretsBone formation   83323007
Has interpretationAbnormal   263654008
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome   722110003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Seizure   91175000
          Seizure disorder   128613002
            Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome   722110003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Globe finding   246915008
        Retina finding   399858007
          Retinal disorder   29555009
            Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome   722110003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Abnormal bone formation   36123008
        Osteogenesis imperfecta   78314001
          Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome   722110003

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