Preferred Label : 12p duplication;
ICD-11 definition : Non-distal trisomy 12p is an extremely rare chromosomal disorder characterized by
craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad
and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent
and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix),
postnatal growth retardation, intellectual deficit and psychomotor retardation, generalized
hypotonia, abnormally short wide hands and/or other abnormalities.;
Origin ID : 105981078;
UMLS CUI : C0795845;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Non-distal trisomy 12p is an extremely rare chromosomal disorder characterized by
craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad
and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent
and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix),
postnatal growth retardation, intellectual deficit and psychomotor retardation, generalized
hypotonia, abnormally short wide hands and/or other abnormalities.
