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
...
Genetic disease
Hereditary disease
Autosomal hereditary disorder
Recessive hereditary disorder, NOS
...
Disorder of vision
Visual disturbance
Blindness AND/OR vision impairment level
Cortical blindness
Preferred term
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
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/773548008
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