Preferred Label : 17p duplication;
ICD-11 definition : Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the
short arm of chromosome 17 and characterized by pre- and post-natal growth retardation,
developmental delay, hypotonia, digital abnormalities, congenital heart defects, and
distinctive facial features. Facial dysmorphism includes microcephaly, receding forehead,
down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth
philtrum, micrognathia, high-arched palate and a short broad neck. Digital abnormalities
include absent fourth and fifth digits, brachydactyly and fifth finger clinodactyly.;
ICD-11 synonym : 17p deletion syndrome;
Origin ID : 2140929307;
UMLS CUI : C0795865;
Currated CISMeF NLP mapping
- False automatic mappings
- Semantic type(s)
- UMLS correspondences (same concept)
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the
short arm of chromosome 17 and characterized by pre- and post-natal growth retardation,
developmental delay, hypotonia, digital abnormalities, congenital heart defects, and
distinctive facial features. Facial dysmorphism includes microcephaly, receding forehead,
down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth
philtrum, micrognathia, high-arched palate and a short broad neck. Digital abnormalities
include absent fourth and fifth digits, brachydactyly and fifth finger clinodactyly.
