Terminology Service for NFDI4Health
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Holoprosencephaly

Go to external page http://purl.obolibrary.org/obo/NCIT_C74988

A rare disorder characterized by the failure of the forebrain to divide into distinct hemispheres. It is associated with craniofacial abnormalities, developmental abnormalities, and seizures. [ ]

Term info

Label

Holoprosencephaly

Synonyms
  • Holoprosencephaly
  • Holoprosencephaly Sequence
Subsets

NCIT_C90259, NCIT_C99147, NCIT_C118467

ALT DEFINITION

Incomplete development of the forebrain that may be associated with midfacial anomalies and pituitary hormone deficiencies.

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C97172

Legacy Concept Name

Holoprosencephaly

NICHD Hierarchy Term

Holoprosencephaly

Preferred Name

Holoprosencephaly

Semantic Type

Disease or Syndrome

UMLS CUI

C0079541

code

C74988

Term relations