孤立性气管食管瘘
Isolated tracheoesophageal fistula
ORPHA:454750疾病
定义 英文原文(暂无中文)
A rare, congenital, esophageal malformation characterized by the presence of an abnormal connection between the esophagus and the trachea (typically occurring in the lower cervical or upper thoracic area and taking an oblique path upward to trachea), without concomitant esophageal atresia. Depending on the size of the lumen, presentation varies from neonatal episodes of choking and cyanosis on feeding to subtle symptoms of wheezing and recurrent respiratory infections in childhood or early adulthood.
别名
H型气管食管瘘
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 新生儿期
- 患病率
- 1-9 / 100 000(Australia)
临床表型 10
常见 79–30%4
- 窒息发作 HP:0030842
- 婴儿期喂养困难 HP:0008872
- 反复咳嗽痉挛 HP:0033362
- 反复肺炎 HP:0006532
偶见 29–5%6
- 腹胀 HP:0003270
- 紫绀发作 HP:0200048
- 发育迟滞 HP:0001508
- 胃食管反流 HP:0002020
- 复发性上呼吸道感染 HP:0002788
- 呼吸窘迫 HP:0002098
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学:Orphanet(CC BY 4.0)
- 中文病名:Orphanet 中文包,冻结于 2020-06-01
- 表型中文标签:HPO 简体中文翻译(CHPO 上游成果)