Preferred Label : De Grouchy syndrome;
ICD-11 definition : Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or
part of the short arm of chromosome 18. The dysmorphic syndrome is very moderate and
non-specific. The main clinical features are short stature, round face with short
philtrum, palpebral ptosis and large ears with detached pinnae. Intellectual deficiency
is mild to moderate. A small subset of patients, about 10 to 15 percent of cases,
present with severe brain/facial malformations evocative of holoprosencephaly spectrum
disorders.;
ICD-11 synonym : 18p deletion syndrome;
Origin ID : 562718016;
UMLS CUI : C0432442;
Currated CISMeF NLP mapping
- Semantic type(s)
Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or
part of the short arm of chromosome 18. The dysmorphic syndrome is very moderate and
non-specific. The main clinical features are short stature, round face with short
philtrum, palpebral ptosis and large ears with detached pinnae. Intellectual deficiency
is mild to moderate. A small subset of patients, about 10 to 15 percent of cases,
present with severe brain/facial malformations evocative of holoprosencephaly spectrum
disorders.
