BC43.10
家族性遗传性肥厚型心肌病
Familial-genetic hypertrophic cardiomyopathy
- 上级条目
- BC43.1 肥厚型心肌病
- 层级
- 5 级
定义
家族性孤立性肥厚型心肌病是指在一个家族的多个成员中存在非综合征性肥厚型心肌病,或存在已知与肥厚型心肌病显著相关的基因突变。
Familial isolated hypertrophic cardiomyopathy is the presence of non-syndromic hypertrophic cardiomyopathy in multiple members of a pedigree, or in the presence of a genetic mutation known to be significantly associated with hypertrophic cardiomyopathy.
索引词 可用于检索该条目的同义词与别名
- 家族性遗传性肥厚型心肌病
- 家族性肥厚型心肌病
- 遗传性心室肥大
- 脂肪酸代谢障碍引起的肥厚型心肌病
- 脂肪酸氧化或酮体生成障碍引起的肥厚型心肌病
- 脂肪酸氧化或生酮障碍引起的肥厚型心肌病
- 肉碱棕榈酰转移酶Ⅱ缺乏症引起的肥厚型心肌病
- 肉碱-脂酰肉碱转位酶缺乏引起的肥厚型心肌病
- 肉碱-酰基肉碱移位酶缺乏症引起的肥厚型心肌病
- 肉碱缺乏症引起的肥厚型心肌病
- 糖原贮积症引起的肥厚型心肌病
- 糖原贮积症合并肥厚型心肌病
- AMP活化蛋白激酶缺乏引起的肥厚型心肌病
- PRKAG2心脏综合征引起的肥厚型心肌病
- Pompe病所致肥厚性心肌病
- 糖原脱分支酶缺乏所致肥厚性心肌病
- LAMP2缺乏症所致肥厚性心肌病
- 溶酶体贮积病引起的肥厚型心肌病
- 溶酶体病引起的肥厚型心肌病
- 安德森-法布里病所致肥厚性心肌病
- Hurler病所致肥厚性心肌病
- Hurler病致肥厚性心肌病(MPS I)
- 线粒体病引起的肥厚型心肌病
- 线粒体病伴肥厚型心肌病
- MELAS所致肥厚性心肌病
- MELAS病致肥厚性心肌病[线粒体脑肌病,高乳酸血症和脑卒中样发作]
- 弗里德赖希共济失调所致肥厚性心肌病
- 与肥厚型心肌病相关的其他特指的家族性疾病
- 原发性淀粉样变性引起的肥厚型心肌病
- 肌节性肥厚型心肌病
- 综合征性肥厚型心肌病
- 颅面皮肤综合征引起的肥厚性心肌病
- Noonan综合征所致肥厚性心肌病
- Noonan综合征伴多发性雀斑所致肥厚性心肌病
- LEOPARD综合征致肥厚性心肌病
- Costello综合征所致肥厚性心肌病
- Beckwith–Wiedemann综合征所致肥厚性心肌病
- Swyer综合征所致肥厚性心肌病
- 妖精综合征所致肥厚性心肌病
- 矮妖精貌综合征致肥厚性心肌病
英文词条(38)
- Familial-genetic hypertrophic cardiomyopathy
- Familial hypertrophic cardiomyopathy
- Hereditary ventricular hypertrophy
- Hypertrophic cardiomyopathy due to disorder of fatty acid metabolism
- Fatty acid oxidation or ketogenesis disorder with hypertrophic cardiomyopathy
- Hypertrophic cardiomyopathy due to carnitine palmitoyl transferase II deficiency
- Hypertrophic cardiomyopathy due to Carnitine-acylcarnitine translocase deficiency
- Hypertrophic cardiomyopathy due to carnitine deficiency
- Hypertrophic cardiomyopathy due to glycogen storage disease
- Glycogen storage disease with hypertrophic cardiomyopathy
- Hypertrophic cardiomyopathy due to AMP-activated protein kinase deficiency
- Hypertrophic cardiomyopathy due to PRKAG2 syndrome
- Hypertrophic cardiomyopathy due to Pompe disease
- Hypertrophic cardiomyopathy due to glycogen debranching enzyme deficiency
- Hypertrophic cardiomyopathy due to LAMP2 deficiency disease
- Hypertrophic cardiomyopathy due to lysosomal storage disease
- Lysosomal disease with hypertrophic cardiomyopathy
- Hypertrophic cardiomyopathy due to Anderson–Fabry disease
- Hypertrophic cardiomyopathy due to Hurler disease
- Hypertrophic cardiomyopathy due to Hurler disease (MPS I)
- Hypertrophic cardiomyopathy due to mitochondrial disorder
- Mitochondrial disease with hypertrophic cardiomyopathy
- Hypertrophic cardiomyopathy due to MELAS
- Hypertrophic cardiomyopathy due to MELAS - [Mitochondrial Encephalopathy, Lactic acidosis, and Stroke-like episodes]
- Hypertrophic cardiomyopathy due to Friedreich's ataxia
- Other specified familial diseases associated with hypertrophic cardiomyopathy
- Hypertrophic cardiomyopathy due to primary amyloidosis
- Sarcomeric hypertrophic cardiomyopathy
- Syndromic hypertrophic cardiomyopathy
- Hypertrophic cardiomyopathy due to craniofacialcutaneous syndrome
- Hypertrophic cardiomyopathy due to Noonan syndrome
- Hypertrophic cardiomyopathy due to Noonan syndrome with multiple lentigines
- Hypertrophic cardiomyopathy due to LEOPARD syndrome
- Hypertrophic cardiomyopathy due to Costello syndrome
- Hypertrophic cardiomyopathy due to Beckwith–Wiedemann syndrome
- Hypertrophic cardiomyopathy due to Swyer's syndrome
- Hypertrophic cardiomyopathy due to Leprechaunism
- Hypertrophic cardiomyopathy due to Donohue syndrome
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