Preferred Label : Anencephaly;
NCIt related terms : Anencephalus;
NCIt definition : A rare neural tube defect during pregnancy, resulting in the absence of a large portion
of the brain and skull in the fetus.;
Alternative definition : CDISC: Absence of the cranial region of the head, with the brain absent or reduced.
(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 : C84560;
UMLS CUI : C0002902;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT
concept_is_in_subset
disease_has_finding