Diaphragmatic Hernia, Congenital (CDH)

Diaphragmatic Hernia, Congenital(来自ICD-11)
别称:
Congenital Diaphragmatic Hernia
Diaphragmatic Hernia
Cdh
Congenital Diaphragm Defect with Hernia
Diaphragm, Unilateral Agenesis of
Gross Congenital Diaphragm Defect
Hernia, Congenital Diaphragmatic
Diaphragmatic Defect, Congenital
Congenital Diaphragmatic Defect
Hernia Diaphragmatic Congenital
Hernia, Diaphragmatic, Type 1
Congenital Diaphragm Hernia
Hemidiaphragm, Agenesis of
Oesophageal Hiatus Hernia
Diaphragmatic Hernia 1
Paraoesophageal Hernia
Hernia, Diaphragmatic
Sliding Hiatus Hernia
Hernia Diaphragmatic
Hiatus Hernia
Dih
Hcd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Diaphragmatic Hernia, Congenital, also known as congenital diaphragmatic hernia, is related to microphthalmia, syndromic 12 and donnai-barrow syndrome. An important gene associated with Diaphragmatic Hernia, Congenital is GATA6 (GATA Binding Protein 6), and among its related pathways/superpathways are Phospholipase-C Pathway and G-protein signaling_Rap2B regulation pathway. The drugs Nitric Oxide and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include lung and heart, and related phenotypes are congenital diaphragmatic hernia and intestinal malrotation
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相关ID:
MESH:D006548
ICD11:1414428936

基础信息

遗传方式
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参考文献
MALACARDS
--
Newborn
1-9/100000
88
839
110

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MGI
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