OMOP Concept 36716110
Epiphyseal dysplasia, microcephalus, nystagmus syndrome
StandardConditionSNOMED721975004Disorder
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 Epiphyseal dysplasia, microcephalus, nystagmus syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C537038 | Lowry Wood syndrome | Non-standard |
Synonyms
Alternative names recorded for Epiphyseal dysplasia, microcephalus, nystagmus syndrome across source vocabularies.
- Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)
- Lowry Wood syndrome
- síndrome de displasia epifisaria, microcefalia y nistagmo
- síndrome de displasia epifisaria, microcefalia y nistagmo (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(52)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Congenital microcephaly
- 1Multiple epiphyseal dysplasia
- 1Progressive microcephaly
- 2Autosomal hereditary disorder
- 2Chronic disease
- 2Congenital anomaly of head
- 2Developmental disorder
- 2Disorder of head
- 2Epiphyseal dysplasia
- 2Microcephaly
- 2Spondyloepiphyseal dysplasia tarda
- 3Chronic disease of musculoskeletal system
- 3Congenital anomaly of skeletal bone
- 3Congenital malformation
- 3Developmental hereditary disorder
- 3Disease
- 3Disorder of epiphysis
- 3Finding of head circumference
- 3Head finding
- 3Hereditary disease
- 3Hereditary disorder of musculoskeletal system
- 3Lesion of bone
- 3Osteochondrodysplasia syndrome
- 3Skeletal dysplasia
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