Concept information
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Musculoskeletal system finding
Disease of the musculoskeletal system, NOS
Congenital anomaly of musculoskeletal system
Skeletal dysplasia
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Disorder of body system
Disease of the musculoskeletal system, NOS
Congenital anomaly of musculoskeletal system
Skeletal dysplasia
Preferred term
Spondyloepiphyseal dysplasia congenita
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Narrower concepts
- Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder)
- Schwartz-Jampel syndrome
- Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder)
- Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)
- Spondyloepiphyseal dysplasia Kimberley type (disorder)
- Spondyloepiphyseal dysplasia Maroteaux type (disorder)
- Spondyloepiphyseal dysplasia Reardon type (disorder)
- Spondyloepiphyseal dysplasia with joint laxity (disorder)
- Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder)
- Stickler syndrome non-ocular type
Associated morphology
Finding site
Is a
- 8447006
- Skeletal dysplasia
Occurrence
Pathological process
In other languages
URI
http://www.irandoc.acir/onto/irandoc/278713008
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