Preferred Name |
无脑畸形 / Anencephaly |
Definitions |
Anencephaly is a neural tube defect, characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours. In most cases autopsy findings reveal absence of adrenal glands. Anencephaly is likely to be multifactorial, the result of gene-environment interactions. Familial cases with a seemingly autosomal recessive mode of inheritance have been described but most cases are sporadic. Folic acid and zinc deficiencies, as well as maternal obesity, have been shown to be risk factors. |
ID |
http://purl.bmicc.cn/ontology/ICD11CN/LA00.0 |
definition |
Anencephaly is a neural tube defect, characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours. In most cases autopsy findings reveal absence of adrenal glands. Anencephaly is likely to be multifactorial, the result of gene-environment interactions. Familial cases with a seemingly autosomal recessive mode of inheritance have been described but most cases are sporadic. Folic acid and zinc deficiencies, as well as maternal obesity, have been shown to be risk factors. |
hasDbXref | |
inclusions |
Hemicephaly Holoanencephaly Meroanencephaly Hemianencephaly |
label |
无脑畸形 / Anencephaly |
mappingRelation | |
notation |
LA00.0 |
prefixIRI |
ICD11CN:LA00.0 |
prefLabel |
无脑畸形 / Anencephaly |
subClassOf |