OMOP Concept 36676402
Ehlers-Danlos syndrome spondylocheirodysplastic type
StandardConditionSNOMED773276004Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2019
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Ehlers-Danlos syndrome spondylocheirodysplastic type via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C567340 | Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like | Non-standard |
Synonyms
Alternative names recorded for Ehlers-Danlos syndrome spondylocheirodysplastic type across source vocabularies.
- Ehlers-Danlos syndrome spondylocheirodysplastic type (disorder)
- síndrome de Ehlers-Danlos tipo displásico espondiloqueiral
- síndrome de Ehlers-Danlos tipo displásico espondiloqueiral relacionado con el gen SLC39A13
- síndrome de Ehlers-Danlos tipo displásico espondiloqueiral (trastorno)
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
- Spondylocheirodysplastic Ehlers-Danlos syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(48)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Spondylodysplastic Ehlers-Danlos syndrome
- 2Autosomal hereditary disorder
- 2Ehlers-Danlos syndrome
- 3Congenital anomaly of skeletal bone
- 3Congenital anomaly of skin
- 3Congenital connective tissue disorder
- 3Connective tissue hereditary disorder
- 3Developmental hereditary disorder
- 3Hereditary disease
- 3Hereditary disorder of musculoskeletal system
- 3Hereditary disorder of the integument
- 3Metabolic bone disease
- 3Metabolic disease of collagen
- 3Musculoskeletal and connective tissue disorder
- 3Skeletal dysplasia
- 3Skin lesion
- 4Congenital anomaly of integument
- 4Congenital anomaly of musculoskeletal system
- 4Congenital disease
- 4Developmental disorder
- 4Disorder of bone
- 4Disorder of bone development
- 4Disorder of connective tissue
- 4Disorder of integument
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