Concept information
Clinical finding (finding)
Finding of general physiological development
Disorder of stature
Small stature
...
Congenital malformation
Congenital malformation syndrome (disorder)
Multiple system malformation syndrome
Multiple malformation syndrome with facial defects as major feature
Preferred term
Macrocephaly, short stature, paraplegia syndrome (disorder)
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Associated morphology
Finding site
- 21031007
- 35918002
- Cerebellar vermis
- Face
- Lower extremity
Has interpretation
Interprets
Is a
- 1145402008
- 14447001
- 192967009
- Intellectual disability
- Multiple malformation syndrome with facial defects as major feature
- Small stature
Occurrence
Pathological process
In other languages
URI
http://www.irandoc.acir/onto/irandoc/722033000
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