Preferred Label : Cebocephaly;
NCIt definition : A congenital abnormality characterized by a malformation of the head. The eyes are
hypoteleric and the nose may be absent or misshapen (small, flattened, single nostril)
and defective.;
Alternative definition : CDISC: Two orbital cavities and two eyes present, the region between being narrowed.
Expected skeletal alterations include fused frontonasal and/or maxillary bones and
incisors. (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 : C124506;
UMLS CUI : C0266679;
Automatic exact mappings (from CISMeF team)
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
- disease_has_finding
