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

http://id.who.int/icd/release/11/2019-04/mms/1292761836

inclusions

Hemicephaly

Holoanencephaly

Meroanencephaly

Hemianencephaly

label

无脑畸形 / Anencephaly

mappingRelation

http://purl.bmicc.cn/ontology/ICD10CN/Q00.0

notation

LA00.0

prefixIRI

ICD11CN:LA00.0

prefLabel

无脑畸形 / Anencephaly

subClassOf

http://purl.bmicc.cn/ontology/ICD11CN/LA00

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http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002902 MedlinePlus Health Topics / MedlinePlus网站健康主题 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q00.0 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 LOOM
http://purl.bioontology.org/ontology/LNC/LA20078-4 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU011716 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/HP_0002323 Human Phenotype Ontology / 人类表型本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84560 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/ICD10/Q00.0 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 LOOM
http://purl.obolibrary.org/obo/MONDO_0000819 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0000819 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/D000757 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/DOID_0060668 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_0060668 Human Disease Ontology / 人类疾病本体 LOOM