Preferred Name |
Holoprosencephaly |
|
Synonyms |
Holoprosencephaly Holoprosencephaly Sequence |
|
Definitions |
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. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74988 |
|
ALT_DEFINITION |
Incomplete development of the forebrain that may be associated with midfacial anomalies and pituitary hormone deficiencies. |
|
code |
C74988 |
|
Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
Contributing_Source |
Cellosaurus NICHD |
|
DEFINITION |
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. |
|
FULL_SYN |
Holoprosencephaly Holoprosencephaly Sequence |
|
label |
Holoprosencephaly |
|
Legacy Concept Name |
Holoprosencephaly |
|
Preferred_Name |
Holoprosencephaly |
|
prefixIRI |
Thesaurus:C74988 |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C4011586 |
|
subClassOf |