OMOP Concept 78257
Osteogenesis imperfecta
StandardConditionSNOMED78314001Disorder
Maps from
26
Descendants
20
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Source codes that map to this concept
26 source codes normalize to Osteogenesis imperfecta via the OMOP "Maps to" relationship.
Synonyms
Alternative names recorded for Osteogenesis imperfecta across source vocabularies.
- Brittle bone disease
- Brittle bone syndrome
- fragilidad ósea
- Fragilitas ossium
- OI - Osteogenesis imperfecta
- Osteogenesis imperfecta (disorder)
- osteogenia imperfecta
- osteogenia imperfecta (trastorno)
- Osteopsathyrosis
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(19)Roll up to these when you need a wider cohort.
- 1Abnormal bone formation
- 1Congenital anomaly of skeletal bone
- 1Genetic disease
- 1Skeletal dysplasia
- 2Bone finding
- 2Congenital anomaly of musculoskeletal system
- 2Disease
- 2Disorder of bone development
- 2Disorder of skeletal system
- 2Functional finding
- 3Clinical finding
- 3Congenital malformation
- 3Developmental disorder
- 3Disorder of bone
- 3Disorder of musculoskeletal system
- 3Musculoskeletal finding
- 4Congenital disease
- 4Disorder of body system
- 5Disorder of fetus and/or newborn
Narrower concepts
(20)Included automatically when you query with descendants.
- 1Ehlers-Danlos and osteogenesis imperfecta syndrome
- 1Feline osteogenesis imperfecta
- 1High bone mass osteogenesis imperfecta
- 1Osteogenesis imperfecta, perinatal lethal
- 1Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
- 1Osteogenesis imperfecta type 5
- 1Osteogenesis imperfecta type I
- 1Osteogenesis imperfecta type III
- 1Osteogenesis imperfecta with normal sclerae, dominant form
- 1Osteoporosis with pseudoglioma
- 2Osteogenesis imperfecta, dominant perinatal lethal
- 2Osteogenesis imperfecta, recessive perinatal lethal
- 2Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
- 2Osteogenesis imperfecta type IIA
- 2Osteogenesis imperfecta type IIB
- 2Osteogenesis imperfecta type IIC
- 2Osteogenesis imperfecta, type IV A
- 2Osteogenesis imperfecta, type IV B
- 2Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta
- 2Osteogenesis imperfecta with blue sclerae AND normal teeth
Get this concept via the API
Resolve Osteogenesis imperfecta - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.
curl "https://api.omophub.com/v1/concepts/78257?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card