Preferred Label : Overgrowth Syndrome;
NCIt definition : A group of syndromes caused by genetic birth defects that may lead to the development
of malignancies. It is characterized by a large body size or large body parts at birth,
or excessive body growth early in childhood. Representative examples include neurofibromatosis,
Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome.;
Alternative definition : NCI-GLOSS: A group of genetic disorders in which there is an abnormal increase in
the size of the body or a body part that is often noted at birth. Examples of overgrowth
syndromes include neurofibromatosis, Sotos syndrome, Beckwith-Wiedemann syndrome,
Simpson-Golabi-Behmel syndrome, Weaver syndrome, Proteus syndrome, Sturge-Weber syndrome,
and fragile X syndrome. Many of these syndromes increase the risk of cancer.;
Codes from synonyms : CDR0000367429;
Origin ID : C94828;
UMLS CUI : C2986703;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)