OMOP Concept 36716191
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
StandardConditionSNOMED722110003Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 722110003 | Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome | Non-standard |
Synonyms
Alternative names recorded for Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome across source vocabularies.
- Al Gazali Nair syndrome
- Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
- síndrome de osteogénesis imperfecta, retinopatía, convulsiones y discapacidad intelectual
- síndrome de osteogénesis imperfecta, retinopatía, convulsiones y discapacidad intelectual (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(50)Roll up to these when you need a wider cohort.
- 1Intellectual disability
- 1Osteogenesis imperfecta
- 1Retinal disorder
- 1Seizure disorder
- 2Abnormal bone formation
- 2Behavior finding
- 2Congenital anomaly of skeletal bone
- 2Disorder of brain
- 2Disorder of vitreous body and/or retina
- 2Genetic disease
- 2Impaired cognition
- 2Intellectual ability - finding
- 2Neurodevelopmental disorder
- 2Retina finding
- 2Seizure
- 2Skeletal dysplasia
- 3Bone finding
- 3Cognitive function finding
- 3Congenital anomaly of musculoskeletal system
- 3Developmental disorder
- 3Disease
- 3Disorder of bone development
- 3Disorder of head
- 3Disorder of posterior segment of eye
- 3Disorder of skeletal system
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