Preferred Label : Craniosynostosis;
NCIt related terms : Craniosynostosis Syndrome;
NCIt definition : A congenital disorder characterized by earlier than normal closure of some or all
sutures of the infant skull.;
Alternative definition : CDISC: Premature closure of cranial sutures with fusion of bone, resulting in small
maldeveloped skull; used to describe multiple skull bone fusions. (Makris S, Solomon
HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden
KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental
abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res
B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.);
Origin ID : C84655;
UMLS CUI : C0010278;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
False automatic mappings
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to BTNT
concept_is_in_subset
disease_has_finding