Concept information
...
Congenital malformation
Congenital malformation syndrome (disorder)
Multiple system malformation syndrome
Multiple malformation syndrome with facial defects as major feature
...
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
Preferred term
Puerto Rican infant hypotonia syndrome (disorder)
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Associated morphology
Finding site
Interprets
Is a
- 363070008
- 363212003
- 398152000
- 8447006
- Congenital anomaly of skeletal muscle
- Multiple malformation syndrome with facial defects as major feature
- Recessive hereditary disorder, NOS
Occurrence
Pathological process
In other languages
URI
http://www.irandoc.acir/onto/irandoc/721887007
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