Concept information
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Disease of the musculoskeletal system, NOS
Congenital anomaly of musculoskeletal system
Skeletal dysplasia
Spondyloepiphyseal dysplasia congenita
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Disease of the musculoskeletal system, NOS
Congenital anomaly of musculoskeletal system
Skeletal dysplasia
Spondyloepiphyseal dysplasia congenita
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Congenital malformation
Congenital anomaly of musculoskeletal system
Skeletal dysplasia
Spondyloepiphyseal dysplasia congenita
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Congenital malformation
Congenital anomaly of musculoskeletal system
Skeletal dysplasia
Spondyloepiphyseal dysplasia congenita
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Disorder of anterior segment of eye
Disorder of lens
Congenital anomaly of lens
Congenital cataract
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Disorder of anterior segment of eye
Disorder of lens
Congenital anomaly of lens
Congenital cataract
...
Disorder of anterior segment of eye
Disorder of lens
Congenital anomaly of lens
Congenital cataract
...
Disorder of anterior segment of eye
Disorder of lens
Congenital anomaly of lens
Congenital cataract
...
Disorder of anterior segment of eye
Disorder of lens
Congenital anomaly of lens
Congenital cataract
...
Disorder of anterior segment of eye
Disorder of lens
Congenital anomaly of lens
Congenital cataract
...
Disorder of anterior segment of eye
Disorder of lens
Congenital anomaly of lens
Congenital cataract
...
Genetic disease
Hereditary disease
Autosomal hereditary disorder
Recessive hereditary disorder, NOS
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developmental disorder
Neurodevelopmental disorder
Developmental mental disorder
Intellectual disability
Preferred term
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Associated morphology
Finding site
Is a
- 237513002
- 363070008
- 363212003
- 363343008
- Cleft palate
- Congenital cataract
- Craniosynostosis syndrome
- Intellectual disability
- Recessive hereditary disorder, NOS
- Spondyloepiphyseal dysplasia congenita
Occurrence
Pathological process
In other languages
URI
http://www.irandoc.acir/onto/irandoc/718766002
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