OMOP Concept 4048386
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
StandardConditionSNOMED15552004Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 131634 | Osteogenesis Imperfecta, Recessive Perinatal Lethal, with Microcephaly and Cataracts | Non-standard |
Synonyms
Alternative names recorded for Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts across source vocabularies.
- osteogénesis imperfecta, perinatal mortal recesiva, con microcefalia Y cataratas
- osteogénesis imperfecta, perinatal mortal recesiva, con microcefalia Y cataratas (trastorno)
- Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(59)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Congenital cataract
- 1Congenital microcephaly
- 1Developmental hereditary disorder
- 1Hereditary disorder of musculoskeletal system
- 1Hereditary disorder of the visual system
- 1Osteogenesis imperfecta, perinatal lethal
- 2Autosomal hereditary disorder
- 2Cataract
- 2Congenital anomaly of head
- 2Congenital anomaly of lens
- 2Developmental disorder
- 2Disorder of musculoskeletal system
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Microcephaly
- 2Osteogenesis imperfecta
- 2Visual system disorder
- 3Abnormal bone formation
- 3Cataract finding
- 3Congenital anomaly of anterior segment of eye
- 3Congenital anomaly of skeletal bone
- 3Congenital malformation
- 3Degenerative disorder of eye
- 3Disease
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