中英文對照表
引用 (9)
2020/2/6 14:56:13
3224
疾病名稱 | 中文翻譯
(中文翻譯僅供參考) |
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13三體症 |
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18三體症 |
3 3-methylcrotonyl-CoA carboxylase deficiency |
3-甲基巴豆醯基輔?A羧化?缺乏症 |
4 4p duplication |
4號染色體短臂複製症候群 |
A Aarskog-scott syndrome |
Aarskog-Scott 氏症候群 |
A Achondroplasia |
軟骨發育不全 |
A Acromesomelic Dysplasia |
肢端及中部骨?發育不良 |
A Alstrom Syndrome |
Alstrom 症候群 |
A Apert syndrome |
亞伯氏症候群 |
A Arteriohepatic Dysphasia (Alagille syndrome, AGS) |
動脈性肝發育不全 |
A Ataxia-Telangiectasia | 共濟失調微血管擴張症候群 |
B Bardet-Biedl Syndrome | Bardet-Biedl氏症候群 |
B Bloom Syndrome | Bloom 症候群 |
B Brachman-de Lange Syndrome | Brachman-de Lange 氏症候群 |
C CAH
C Congenital Adrenal hyperplasia; CAH (21- hydroxylase deficiency) |
腎上腺增生症
21-羥化酵素缺乏症 |
C Camurati Engelmann | Camurati Engelmann 症候群 |
C Citrullinemia | 瓜胺酸血症 |
C Cleidocranial dysplasia | 鎖骨顱骨成骨不全症 |
C Clouston Syndrome | Clouston 症候群 |
D De Lange syndrome | 狄蘭吉氏症候群 |
D Deletion 11q syndrome | 11q缺失症候群 |
D Deletion 4q Syndrome | 4q 缺失症候群 |
D DIDMOAD,Wolfram syndrome | Wolfram氏症候群 |
D DiGeorge | DiGeorge症候群 |
D Duchenne Muscular Dystrophy(dmd) | 裘馨氏肌肉失養症 |
D Dopa-Responsive Dystonia (Segawa disease) | |
D DOWN Syndrome | 唐氏症 |
D Duplication 6q Syndrome | 染色體6號長臂複製症候群 |
F Fabry Disease | 法布瑞氏症 |
F F.O.P | |
F Fragile X Syndrome | 脆性X染色體症 |
F Fucosidosis | 岩藻糖貯積症 |
G GAI | 第一型戊二酸尿症 |
G Gaucher's Disease | 高雪氏症 |
G Glycogen storage disease | 肝醣儲積症 |
H Cystinosis | 胱胺酸貯積症 |
H Hereditary Epidermolysis Bullosa(HEB) |
遺傳性表皮分解性水皰症-泡泡龍 |
H Hereditary Coproporphyria(HCP) | 遺傳性糞紫質症 |
H Hemimegalencephaly, Hemihypertrophy,Epidermal nevus syndrome | 半側巨腦、半側肥大、表皮斑痣症候群 |
H Homocystinuria | 高胱胺酸尿症 |
H Homozygous Familial Hypercholesterolemia | 同合子家族性高膽固醇血症 |
H Huntington disease(Huntington's chorea) | 亨丁頓舞蹈症 |
H Hyperammponemia | 高血氨症-尿素循環代謝異常 |
K Kabuki make-up syndrome | Kabuki症候群或Niikawa-Kuroki症候群 |
K Kartagener Syndrome | Kartagener症候群 |
K Kearns-Sayre Syndrome | Kearns-Sayre症候群 |
K Kenny-Caffey Syndrome(KCS) | Kenny-Caffey症候群 |
K Klinefelter Syndrome | 克林那費爾特症候群 |
L Leigh syndrome | Leigh症候群(亞急性壞死性腦肌病變) |
L Leucine metabolic disease | 白胺酸代謝異常 |
L Lowe syndrome | Lowe氏症候群 |
M Maple Syrup Urine Disease | 楓糖尿症 |
M Marfan syndrome | 馬凡氏症候群 |
M Menkes Disease | 孟克斯氏症候群 |
M Mucopolysaccharidoses(MPS) | 黏多醣症 |
M Multiple Lentigines Syndrome |
Multiple Lentigines 症候群 (LEOPARD 症候群) |
M Multiple neuroma | 多發性神經纖維瘤症候群 |
M Multiple Sclerosis(MS) | |
N Nemaline Myopathy | 桿狀體肌肉病變 |
N Nesidioblastosis | 胰島母細胞瘤 |
N Nonketotic Hyperglycinemi | 非酮性高甘胺酸血症 |
N Noonan Syndrome | 汝南氏症候群 |
O Oculo-auriculo-vertebral Spectrum | 眼耳脊椎畸形譜 |
O Osteogenesis imperfecta | 成骨不全-玻璃娃娃 |
O Osteochondromatosis Syndrome | 骨軟骨瘤病症候群 |
O Osler Hemorrhagic Telangiectasia Syndrome | 遺傳出血性毛細管擴張症候群 |
P Pachyonychia Congenita Syndrome | 先天性厚甲 (Pachyonychia Congenita) 症候群 |
P PSEUDOHYPOPARATHYROIDISM(PHP) | |
P Phenylketonuria(PKU) | 苯酮尿症 |
P Prader-Willi Syndrome | PW症 |
P Primary Paget Disease ; PBD | 原發形變形性骨炎 |
P Progressive Familial Intrahepatic Cholestasis | 進行症 家族性肝內膽汁滯流症 |
P Propionic Acidemia | 丙酸血症 |
R Rett Syndrome | 蕾特氏症 |
R Rubinstlin-Taybi Syndrome | Rubinstein-Taybi 症候群 |
R Russell-Silver Syndorme | Russell-Silver 症候群 |
S Short-Chain acyl CoA dehydrogenase deficiency | 短鏈脂肪酸去氫酵素缺乏症 |
S Spinal muscular atrophy | 脊髓性肌肉萎縮症 |
S Smith-Lemli-Opitz Syndrome | Smith-Lemli-Opitz 症候群 |
S Spinocerebellar Ataxia | 脊髓性小腦萎縮症-脊髓小腦性共濟失調 |
S Spondyloepiphyseal Dysplasia Congenita | 先天性脊椎骨?發育不良 (障礙) |
S Spondyloepiphyseal Dysplasia Tarda | 性聯脊椎骨?發育不良 (遲發性) |
S Sulfite Oxidase Difciency | 亞硫酸鹽氧化酵素缺乏 |
T Treacher Collins Syndrome | Treacher Collins 症候群 |
T Trisomy 8 syndrome | 8號染色體三體症 |
T Tuberous Sclerosis Complex(TSC) | 結節性硬化症 |
V Velo-cardio-facial syndrome | 顎心臉症候群 |
W Waardenburg Syndrome | 瓦登伯革氏症候群-藍眼珠 |
W Williams syndrome | 威廉氏症候群 |
W Wilson’s Disease | 威爾森氏症 |
X X-linked hypophospatemia | 性聯低血磷症 |
X XXX&XXXX | XXX三體症&XXXX四體症 |
Z Zellweger syndrome | |
隱性致死性骨質石化症 |