Concept information
...
Disease of the musculoskeletal system, NOS
Congenital anomaly of musculoskeletal system
Skeletal dysplasia
Spondyloepiphyseal dysplasia congenita
...
Disease of the musculoskeletal system, NOS
Congenital anomaly of musculoskeletal system
Skeletal dysplasia
Spondyloepiphyseal dysplasia congenita
...
Congenital malformation
Congenital anomaly of musculoskeletal system
Skeletal dysplasia
Spondyloepiphyseal dysplasia congenita
...
Congenital malformation
Congenital anomaly of musculoskeletal system
Skeletal dysplasia
Spondyloepiphyseal dysplasia congenita
...
Genetic disease
Hereditary disease
Autosomal hereditary disorder
Dominant hereditary disorder, NOS
Preferred term
Stickler syndrome non-ocular type
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Associated morphology
Finding site
Has interpretation
Interprets
Is a
- 103276001
- 232333009
- 362991006
- 363070008
- 363212003
- Congenital sensorineural hearing loss (disorder)
- Dominant hereditary disorder, NOS
- Multiple malformation syndrome with facial defects as major feature
- Spondyloepiphyseal dysplasia congenita
Occurrence
Pathological process
In other languages
-
Persian
URI
http://www.irandoc.acir/onto/irandoc/783097004
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