OMOP Concept 36713800
Spondyloepiphyseal dysplasia MacDermot type
StandardConditionSNOMED718763005Disorder
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 Spondyloepiphyseal dysplasia MacDermot type via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 718763005 | Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Non-standard |
Synonyms
Alternative names recorded for Spondyloepiphyseal dysplasia MacDermot type across source vocabularies.
- síndrome de displasia espondiloepifisaria con miopía y sordera neurosensorial
- síndrome de displasia espondiloepifisaria con miopía y sordera neurosensorial (trastorno)
- Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome
- Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(40)Roll up to these when you need a wider cohort.
- 1Auditory system hereditary disorder
- 1Autosomal dominant hereditary disorder
- 1Developmental hereditary disorder
- 1Hearing loss associated with syndrome
- 1Hereditary disorder of musculoskeletal system
- 1Hereditary disorder of the visual system
- 1Myopia
- 1Sensorineural hearing loss
- 1Spondyloepiphyseal dysplasia congenita
- 2Autosomal hereditary disorder
- 2Congenital anomaly of skeletal bone
- 2Developmental disorder
- 2Disorder of auditory system
- 2Disorder of musculoskeletal system
- 2Disorder of refraction
- 2Hearing loss
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Skeletal dysplasia
- 2Visual system disorder
- 3Congenital anomaly of musculoskeletal system
- 3Disease
- 3Disorder of body system
- 3Disorder of bone development
- 3Disorder of refraction AND/OR accommodation
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