OMOP Concept 4113606
Spondyloepimetaphyseal disorder
StandardConditionSNOMED254062008Disorder
Maps from
1
Descendants
56
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
1 source code normalizes to Spondyloepimetaphyseal disorder via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| HPO | HP_0002651 | Spondyloepimetaphyseal dysplasia | Non-standard |
Synonyms
Alternative names recorded for Spondyloepimetaphyseal disorder across source vocabularies.
- Spondyloepimetaphyseal disorder (disorder)
- Spondyloepimetaphyseal dysplasia
- trastorno espondiloepimetafisario
- trastorno espondiloepimetafisario (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(29)Roll up to these when you need a wider cohort.
- 1Metaphyseal chondrodysplasia
- 2Congenital anomaly of skeletal bone
- 2Congenital malformation syndromes associated with short stature
- 2Lesion of bone
- 2Skeletal dysplasia
- 3Congenital anomaly of musculoskeletal system
- 3Congenital malformation syndrome
- 3Disorder of bone
- 3Disorder of bone development
- 3Short stature disorder
- 3Structural abnormality of skeleton
- 4Bone finding
- 4Congenital malformation
- 4Developmental disorder
- 4Disorder of musculoskeletal system
- 4Disorder of skeletal system
- 4Disorder of stature
- 4Short stature
- 5Body height below reference range
- 5Congenital disease
- 5Disease
- 5Disorder of body system
- 5Finding of general physiological development
- 5General finding of height
- 5Musculoskeletal finding
Showing 25 of 29. Retrieve the full set via the API.
Narrower concepts
(56)Included automatically when you query with descendants.
- 1Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome
- 1Cono-spondylar dysplasia
- 1Czech dysplasia metatarsal type
- 1Dyggve-Melchior-Clausen syndrome
- 1Dyssegmental dysplasia Silverman Handmaker type
- 1Immuno-osseous dysplasia
- 1Namaqualand hip dysplasia
- 1Opsismodysplasia
- 1Otospondylomegaepiphyseal dysplasia
- 1Progressive pseudorheumatoid dysplasia
- 1Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome
- 1Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
- 1Rolland-Debuqois syndrome
- 1Smith McCort dysplasia
- 1Sponastrime dysplasia
- 1Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome
- 1Spondyloepimetaphyseal dysplasia aggrecan type
- 1Spondyloepimetaphyseal dysplasia anauxetic type
- 1Spondyloepimetaphyseal dysplasia Genevieve type
- 1Spondyloepimetaphyseal dysplasia Handigodu type
- 1Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
- 1Spondyloepimetaphyseal dysplasia Irapa type
- 1Spondyloepimetaphyseal dysplasia Isidor type
- 1Spondyloepimetaphyseal dysplasia matrilin-3 type
- 1Spondyloepimetaphyseal dysplasia Missouri type
Showing 25 of 56. Retrieve the full set via the API.
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