loading...| Preferred Name |
anencephaly |
|
| Synonyms |
anencephaly and similar malformations |
|
| Definitions |
A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp. |
|
| ID |
http://purl.obolibrary.org/obo/GSSO_006765 |
|
| definition |
A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp. A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus. A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. |
|
| Disease Ontology ID | ||
| has broad synonym |
anencephaly and similar malformations |
|
| has database cross reference | ||
| ICD-10-CM |
Q00.0 |
|
| label |
anencephaly |
|
| Medical Dictionary for Regulatory Activities ID | ||
| MeSH Descriptor ID | ||
| NCI Thesaurus ID | ||
| prefixIRI |
GSSO:006765 |
|
| prefLabel |
anencephaly |
|
| subClassOf |