Preferred Label : Coffin-Siris syndrome;
ICD-11 definition : Coffin-Siris syndrome isa malformation syndrome characterized by the association of
absent fifth finger and toenails with intellectual deficit. Other signs include microcephaly,
coarse facial features, sparse scalp hair, early feeding problems, recurrent respiratory
infections, short stature and growth deficiency.;
Origin ID : 734451870;
Currated CISMeF NLP mapping
Coffin-Siris syndrome isa malformation syndrome characterized by the association of
absent fifth finger and toenails with intellectual deficit. Other signs include microcephaly,
coarse facial features, sparse scalp hair, early feeding problems, recurrent respiratory
infections, short stature and growth deficiency.
