5C51.3
糖原贮积病
Glycogen storage disease
- 层级
- 5 级
定义
糖原贮积病是一组由肌肉、肝脏和其他细胞类型的糖原合成或分解过程中的缺陷引起的异质性疾病。
The term Glycogen storage disease characterises a group of heterogeneous diseases resulting from defects in the process of glycogen synthesis or breakdown within muscles, liver, and other cell types.
包含词 该编码包含的临床情况，通常不作为独立编码
- LAMP-2缺乏引起的糖原贮积病
- 糖原脱支酶缺乏引起的糖原贮积病
- 肌肉糖原磷酸化酶缺乏引起的糖原贮积病
- 肝糖原磷酸化酶缺乏引起的糖原贮积病
- GLUT2缺乏引起的糖原贮积病
- 醛缩酶A缺乏引起的糖原贮积病
- 肌肉β-烯醇化酶缺乏引起的糖原贮积病
- 葡糖磷酸变位酶缺乏引起的糖原贮积病
- 糖原蛋白缺乏引起的糖原贮积病
- 磷酸甘油酸激酶1缺乏引起的糖原贮积病
- 乳酸脱氢酶缺乏引起的糖原贮积病
- 肌肉丙酮酸激酶缺乏引起的糖原贮积病
- 糖原分支酶缺乏引起的扩张型心肌病
英文词条（13）
- Glycogen storage disease due to LAMP-2 deficiency
- Glycogen storage disease due to glycogen debranching enzyme deficiency
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency
- Glycogen storage disease due to liver glycogen phosphorylase deficiency
- Glycogen storage disease due to GLUT2 deficiency
- Glycogen storage disease due to aldolase A deficiency
- Glycogen storage disease due to muscle beta-enolase deficiency
- Glycogen storage disease due to phosphoglucomutase deficiency
- Glycogen storage disease due to glycogenin deficiency
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Glycogen storage disease due to lactate dehydrogenase deficiency
- Glycogen storage disease due to muscle pyruvate kinase deficiency
- Dilated cardiomyopathy due to glycogen branching enzyme deficiency
索引词 可用于检索该条目的同义词与别名
- 糖原贮积病
- GSD[糖原贮积病]
- 糖原贮积病
- 糖原病
- 糖原累积症
- 糖原贮积症
- 弥漫型糖原病 [possible translation]
- 全身性糖原贮积病 [possible translation]
- 婴儿全身性糖原贮积病 [possible translation]
- 全身性糖原病 [possible translation]
- 糖原合成酶缺乏 [possible translation]
- 弥漫型糖原病
- 婴儿全身性糖原贮积病
- 全身性糖原病
- 糖原合成酶缺乏
- 全身性糖原贮积病
- 糖原合成酶缺乏引起的糖原贮积病
- 糖原合成酶缺乏
- 糖原贮积病0型
- 糖原病0型
- GSD0型
- 肝糖原合成酶缺乏引起的糖原贮积病
- GSD 0A型
- 糖原贮积病0A型
- 糖原病0A型
- 肌肉或心脏糖原合成酶缺乏引起的糖原贮积病
- 糖原贮积病0B型
- 糖原病0B型
- GSD 0B型
- 肌肉和心脏糖原缺乏引起的心肌病-运动不耐受
- 葡萄糖-6-磷酸盐系统缺乏引起的糖原贮积病
- HERS[肝肾糖原贮积病]
- 肝脏和肾脏糖原贮积病
- 肝肾糖原贮积病
- 糖原贮积病1型
- 糖原病1型
- GSD1型
- 肝肾糖原病
- Von Gierke病
- 葡萄糖-6-磷酸酶缺乏引起的糖原贮积病
- g6pd[葡萄糖-6-磷酸脱氢酶缺乏症]
- g-6pd缺乏症
- 糖原贮积病1A型
- 糖原病1A型
- GSD1A型
- 葡萄糖-6-磷酸酶缺乏症 [possible translation]
- 葡萄糖-6-磷酸酶缺乏症
- 葡萄糖-6-磷酸盐转运缺陷引起糖原贮积病
- 糖原贮积病1B型
- 糖原病1B型
- GSD 1B
- 糖原贮积病非1A型
- 糖原病非1A型
- 葡萄糖-6-磷酸盐转位酶缺乏引起的糖原贮积病
- 葡萄糖-6-磷酸脱氢酶缺乏症
- 酸性麦芽糖酶缺乏引起的糖原贮积病
- α-葡糖苷酶缺乏症
- 糖原贮积病2型
- 糖原病2型
- GSD2型
- 酸性麦芽糖酶缺乏症
- Pompe病
- 酸性α-1,4-葡糖苷酶缺乏症
- 淀粉葡糖苷酶缺乏症 [possible translation]
- 淀粉葡糖苷酶缺乏症
- 酸性麦芽糖酶缺乏引起的糖原贮积病，婴儿型
- 溶酶体α-1,4葡糖苷酶缺乏（症）
- 糖原贮积病2型，婴儿型
- 糖原病2型，婴儿型
- GSD2，婴儿型
- 酸性α-1,4-葡糖苷酶缺乏引起的糖原贮积病，婴儿型
- 婴儿型Pompe病
- 酸性麦芽糖酶缺乏引起的糖原贮积病，青少年型
- 酸性麦芽糖酶缺乏引起的糖原贮积病，成人型
- 表多糖-1,4-α-葡萄糖苷酶缺乏症
- 葡聚糖1,4-α-葡糖苷酶缺乏
- γ-淀粉酶缺乏症
- 葡糖淀粉酶缺乏症
- 葡萄糖转化酶缺乏症
- 葡萄糖苷蔗糖酶缺乏症
- 麦芽糖酶缺乏症
- LAMP-2缺乏引起的糖原贮积病
- 糖原贮积病2B型
- 糖原病2B型
- GSD2B型
- 溶酶体糖原贮积病伴正常的酸性麦芽糖酶活性
- Danon病
- 糖原脱支酶缺乏引起的糖原贮积病
- 淀粉-1,6-葡糖苷酶缺乏症
- Cori病
- Forbes病
- Forbes糖原贮积病
- 糖原贮积病3型
- 糖原病3型
- GSD3型
- 淀粉-1,6-葡糖苷酶缺乏症
- 糖原脱支不足
- Cori-Forbes病
- 脱支酶缺乏糖原贮积病 [possible translation]
- 脱支酶缺乏症 [possible translation]
- 6-α-葡糖苷酶缺乏症 [possible translation]
- 6-α-葡糖苷酶缺乏症
- 脱支酶缺乏糖原贮积病
- 脱支酶缺乏症
- 肌肉糖原磷酸化酶缺乏引起的糖原贮积病
- 肌磷酸化酶缺乏性糖原病
- 糖原贮积病5型
- 糖原病5型
- GSD5型
- 肌磷酸化酶缺乏症
- McArdle病
- 麦卡德尔病
- 肝糖原磷酸化酶缺乏引起的糖原贮积病
- 肝磷酸化酶缺乏症
- 肝磷酸化酶缺乏引起的糖原贮积病
- 糖原贮积病6型
- 糖原病6型
- GSD6型
- 糖原贮积病6B型
- 糖原病6B型
- GSD6B型
- Hers病
- 肌肉果糖磷酸激酶缺乏引起的糖原贮积病
- 磷酸果糖醛缩酶缺乏性贫血
- 糖原贮积病7型
- 糖原病7型
- GSD7型
- 肌肉果糖磷酸激酶缺乏症
- Tarui病
- 糖原磷酸化酶激酶缺乏引起的糖原贮积病
- 磷酸化酶激酶缺乏引起的糖原贮积病
- 磷酸化酶激酶缺乏引起的GSD
- 肝糖原磷酸化酶激酶缺乏引起的糖原贮积病
- 肝磷酸化酶激酶缺乏症
- 糖原贮积病8型
- 糖原病8型
- GSD8[糖原贮积病8型]
- GSD9C型[糖原累积病9C型]
- GSD6A[糖原累积病6A型]
- GSD9A[糖原累积病9A型]
- 糖原贮积病6A型 [possible translation]
- 糖原贮积病9A型 [possible translation]
- 糖原贮积病9C型 [possible translation]
- 糖原病6A型 [possible translation]
- 糖原病9A型 [possible translation]
- 糖原病9C型 [possible translation]
- 糖原贮积病9A型
- 糖原病9A型
- 糖原贮积病6A型
- 糖原病6A型
- 糖原贮积病9C型
- 糖原病9C型
- 肝或肌糖原磷酸化酶激酶缺乏引起的糖原贮积病
- 糖原贮积病9型
- 糖原病9型
- GSD9[糖原累积病9]
- 糖原贮积病9B型
- 糖原病9B型
- GSD9B型
- 心脏糖原磷酸化酶激酶缺乏引起的糖原贮积病
- 弥漫性糖原性心脏扩大
- 糖原心脏病
- 糖原性心肌浸润
- 糖原性心肌浸润
- 糖原贮积病9F型
- 糖原病9F型
- GSD9F
- 心脏糖原贮积病
- 心脏糖原病
- 肌肉糖原磷酸化酶激酶缺乏引起的糖原贮积病
- GSD9D[糖原累积病IXD型]
- 糖原累积病IXE型
- GSD9E [possible translation]
- 糖原贮积病9D型 [possible translation]
- 糖原贮积病9E型 [possible translation]
- 糖原病9D型 [possible translation]
- 糖原贮积病9E型 [possible translation]
- 肌糖原磷酸化酶缺乏症 [possible translation]
- 肌糖原磷酸化酶缺乏症
- 糖原病9D型
- 糖原贮积病9D型
- 糖原贮积病9E型
- 糖原贮积病9E型
- GSD9E
- 肌肉磷酸甘油酸酯变位酶缺乏引起的糖原贮积病
- 糖原贮积病10型
- 糖原病10型
- GSD10型
- Di Mauro病
- GLUT2缺乏引起的糖原贮积病
- Fanconi-Bickel综合征
- 糖原贮积病11型
- 糖原病11型
- GSD11型
- Fanconi-Bickel糖原病
- Bickel-Fanconi病
- 异化葡萄糖转运蛋白2型缺乏症
- 醛缩酶A缺乏引起的糖原贮积病
- 糖原贮积病12型
- 糖原病12型
- 另有 42 条未显示
英文词条（215）
- Glycogen storage disease
- GSD - [Glycogen storage disease]
- Glycogenosis
- diffuse glycogenosis
- generalised glycogen storage disease
- generalised glycogen storage disease of infants
- generalised glycogenosis
- glycogen synthase deficiency
- glycogen thesaurismosis
- Glycogen storage disease due to glycogen synthase deficiency
- GSD type 0
- Glycogen storage disease type 0
- Glycogenosis type 0
- deficiency of glycogen synthetase
- Glycogen storage disease due to liver glycogen synthase deficiency
- GSD type 0A
- Glycogen storage disease type 0A
- Glycogenosis type 0A
- Glycogen storage disease due to muscle or heart glycogen synthase deficiency
- Cardiomyopathy-exercise intolerance due to muscle and heart glycogen deficiency
- GSD type 0B
- Glycogen storage disease type 0B
- Glycogenosis type 0B
- Glycogen storage disease due to glucose-6-phosphate system deficiency
- GSD type 1
- Glycogen storage disease type 1
- Glycogenosis type 1
- HERS - [hepatorenal glycogen storage disease]
- Hepatorenal glycogenosis
- Von Gierke disease
- glycogen storage disease of liver and kidney
- hepatorenal glycogen storage disease
- Glycogen storage disease due to glucose-6-phosphatase deficiency
- GSD type 1A
- Glycogen storage disease type 1A
- Glycogenosis type 1A
- deficiency of g-6pd
- g6pd - [glucose-6-phosphate dehydrogenase deficiency]
- glucose-6-phosphatase deficiency
- Glycogen storage disease due to glucose-6-phosphate transport defect
- GSD1B
- Glycogen storage disease due to glucose-6-phosphate translocase deficiency
- Glycogen storage disease type 1B
- Glycogen storage disease type non-1A
- Glycogenosis type 1B
- Glycogenosis type non-1A
- Glucose-6-phosphate dehydrogenase deficiency
- Glycogen storage disease due to acid maltase deficiency
- Acid alpha-1,4-glucosidase deficiency
- Acid maltase deficiency
- GSD type 2
- Glycogen storage disease type 2
- Glycogenosis type 2
- Pompe disease
- alpha-glucosidase deficiency
- deficiency of amyloglucosidase
- Glycogen storage disease due to acid maltase deficiency, infantile onset
- GSD2, infantile onset
- Glycogen storage disease due to acid alpha-1,4-glucosidase deficiency, infantile onset
- Glycogen storage disease type 2, infantile onset
- Glycogenosis type 2, infantile onset
- Infantile Pompe disease
- lysosomal alpha-1,4-glucosidase deficiency (disorder)
- Glycogen storage disease due to acid maltase deficiency, juvenile onset
- Glycogen storage disease due to acid maltase deficiency, adult onset
- Deficiency of exo-1,4-alpha-glucosidase
- Deficiency of glucan 1,4-alpha-glucosidase
- Deficiency of gamma-amylase
- Deficiency of glucoamylase
- Deficiency of glucoinvertase
- Deficiency of glucosidosucrase
- Deficiency of maltase
- Glycogen storage disease due to LAMP-2 deficiency
- GSD type 2B
- Glycogen storage disease type 2B
- Glycogenosis type 2B
- Lysosomal glycogen storage disease with normal acid maltase activity
- Danon disease
- Glycogen storage disease due to glycogen debranching enzyme deficiency
- Amylo-1,6-glucosidase deficiency
- Cori disease
- Cori-Forbes disease
- Forbes disease
- Forbes glycogen storage disease
- GSD type 3
- Glycogen debranching deficiency
- Glycogen storage disease type 3
- Glycogenosis type 3
- amylo-1,6-glucosidase deficiency disorder
- debrancher deficiency glycogen storage disease
- debrancher enzyme deficiency
- deficiency of 6-alpha-d-glucosidase
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency
- GSD type 5
- Glycogen storage disease type 5
- Glycogenosis type 5
- McArdle disease
- Myophosphorylase deficiency
- myophosphorylase deficiency glycogenosis
- Glycogen storage disease due to liver glycogen phosphorylase deficiency
- GSD type 6
- GSD type 6B
- Glycogen storage disease type 6
- Glycogen storage disease type 6B
- Glycogenosis due to liver phosphorylase deficiency
- Glycogenosis type 6
- Glycogenosis type 6B
- Hers disease
- deficiency of hepatophosphorylase
- Glycogen storage disease due to muscle phosphofructokinase deficiency
- GSD type 7
- Glycogen storage disease type 7
- Glycogenosis type 7
- Muscle phosphofructokinase deficiency
- Tarui disease
- anaemia due to phosphofructo-aldolase deficiency
- Glycogen storage disease due to glycogen phosphorylase kinase deficiency
- GSD due to phosphorylase kinase deficiency
- Glycogenosis due to phosphorylase kinase deficiency
- Glycogen storage disease due to liver glycogen phosphorylase kinase deficiency
- GSD type 9C - [glycogen storage disease type 9C]
- GSD6A - [glycogen storage disease type 6A]
- GSD8 - [glycogen storage disease type 8]
- GSD9A - [glycogen storage disease type 9A]
- Glycogen storage disease type 6A
- Glycogen storage disease type 8
- Glycogen storage disease type 9A
- Glycogen storage disease type 9C
- Glycogenosis type 6A
- Glycogenosis type 8
- Glycogenosis type 9A
- Glycogenosis type 9C
- Hepatic phosphorylase kinase deficiency
- Glycogen storage disease due to liver or muscle glycogen phosphorylase kinase deficiency
- GSD type 9B
- GSD9 - [glycogen storage disease type 9]
- Glycogen storage disease type 9
- Glycogen storage disease type 9B
- Glycogenosis type 9
- Glycogenosis type 9B
- Glycogen storage disease due to heart glycogen phosphorylase kinase deficiency
- Cardiac glycogenosis
- GSD9F
- Glycogen storage disease of heart
- Glycogen storage disease type 9F
- Glycogenosis type 9F
- cardiomegalia glycogenica diffusa
- glycogen heart disease
- glycogenic myocardial infiltration
- glycogenic myocardium infiltration
- Glycogen storage disease due to muscle glycogen phosphorylase kinase deficiency
- GSD9D - [glycogen storage disease type IXD]
- GSD9E
- Glycogen storage disease type 9D
- Glycogen storage disease type 9E
- Glycogenosis type 9D
- Glycogenosis type 9E
- glycogenosis type IXE
- muscle glycogen phosphorylase deficiency
- Glycogen storage disease due to muscle phosphoglycerate mutase deficiency
- Di Mauro disease
- GSD type 10
- Glycogen storage disease type 10
- Glycogenosis type 10
- Glycogen storage disease due to GLUT2 deficiency
- Bickel-Fanconi disease
- Facilitated glucose transporter protein type 2 deficiency
- Fanconi-Bickel glycogenosis
- Fanconi-Bickel syndrome
- GSD type 11
- Glycogen storage disease type 11
- Glycogenosis type 11
- Glycogen storage disease due to aldolase A deficiency
- GSD type 12
- Glycogen storage disease type 12
- Glycogenosis type 12
- Glycogen storage disease due to muscle beta-enolase deficiency
- GSD type 13
- Glycogen storage disease type 13
- Glycogenosis type 13
- Glycogen storage disease due to phosphoglucomutase deficiency
- GSD type 14
- Glycogen storage disease type 14
- Glycogenosis type 14
- Glycogen storage disease due to glycogenin deficiency
- GSD type 15
- Glocogenosis type 15
- Glycogen storage disease type 15
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- GSD due to phosphoglycerate kinase 1 deficiency
- Glycogenosis due to phosphoglycerate kinase 1 deficiency
- Glycogen storage disease due to lactate dehydrogenase deficiency
- GSD due to lactate dehydrogenase deficiency
- Glycogenosis due to lactate dehydrogenase deficiency
- Glycogen storage disease due to muscle pyruvate kinase deficiency
- GSD due to muscle pyruvate kinase deficiency
- Glycogenosis due to muscle pyruvate kinase deficiency
- Glycogen storage liver disease
- hepatomegalia glycogenica diffusa
- liver glycogen disease
后组配轴 Postcoordination
该条目未定义后组配轴，直接使用上面的编码即可。后组配是在主干编码之后追加侧别、具体解剖部位、严重程度、病因等细节的可选组合方式，不是必填项。