Concept information
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Congenital malformation
Congenital malformation syndrome (disorder)
Multiple system malformation syndrome
Multiple malformation syndrome with facial defects as major feature
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Congenital malformation
Congenital malformation syndrome (disorder)
Multiple system malformation syndrome
Multiple malformation syndrome with facial defects as major feature
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Musculoskeletal system finding
Bone finding
Bowing deformity of bone
Congenital bowing of long bone (disorder)
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Hereditary disease
Autosomal hereditary disorder
Recessive hereditary disorder, NOS
Congenital bowing of long bone (disorder)
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Disease of the musculoskeletal system, NOS
Congenital anomaly of musculoskeletal system
Skeletal dysplasia
Spondylometaphyseal dysplasia
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Disease of the musculoskeletal system, NOS
Congenital anomaly of musculoskeletal system
Skeletal dysplasia
Spondylometaphyseal dysplasia
Preferred term
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Associated morphology
Finding site
Is a
Occurrence
Pathological process
In other languages
URI
http://www.irandoc.acir/onto/irandoc/782913006
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