A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. [ url:http://en.wikipedia.org/wiki/Holoprosencephaly url:http://www.ncbi.nlm.nih.gov/books/NBK1530/ http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007646 ]
Synonyms: Holoprosencephaly sequence
Term information
- NCI:C74988
- GARD:6665
- MIM:PS236100
- ICD10CM:Q04.2
- SNOMEDCT_US_2023_03_01:30915001
- ORDO:2162
- MESH:D016142
- UMLS_CUI:C0079541
DO_rare_slim, NCIthesaurus