Preferred Label : Chromothripsis;
Définition CISMeF : https://en.wikipedia.org/wiki/Chromothripsis;
NCIt definition : A cytogenetic abnormality characterized by the occurrence of a large number of chromosomal
rearrangements that are restricted to sites in one or a few chromosomes. Chromothripsis
may result from a single catastrophic event that causes multiple double-strand breaks,
which are subsequently repaired or reassembled by error-prone DNA repair pathways
or through aberrant DNA replication mechanisms.;
PubMed : 26455580;
Origin ID : C129355;
UMLS CUI : C4277538;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
https://en.wikipedia.org/wiki/Chromothripsis
