2 基本信息
《第一批罕見病目錄》由國家衛生健康委員會、科學技術部工業和信息化部、國家藥品監督管理局、國家中醫藥管理局於2018年5月11日《關於公佈第一批罕見病目錄的通知》(國衛醫發〔2018〕10號)印發。第一批罕見病目錄共涉及121種疾病。
3 發佈通知
關於公佈第一批罕見病目錄的通知
國衛醫發〔2018〕10號
各省、自治區、直轄市及新疆生產建設兵團衛生計生委、科技廳(委、局)、工業和信息化主管部門、食品藥品監督管理局、中醫藥管理局:
爲貫徹落實中共中央辦公廳、國務院辦公廳《關於深化審評審批制度改革鼓勵藥品醫療器械創新的意見》,加強我國罕見病管理,提高罕見病診療水平,維護罕見病患者健康權益,國家衛生健康委員會等5部門聯合制定了《第一批罕見病目錄》。現印發你們,供各部門在工作中參考使用。
國家衛生健康委員會 科學技術部工業和信息化部 國家藥品監督管理局 國家中醫藥管理局
2018年5月11日
4 完整目錄
序號 | 中文名稱 | 英文名稱 |
1 | 21-Hydroxylase Deficiency | |
2 | Albinism | |
3 | Alport 綜合徵 | Alport Syndrome |
4 | Amyotrophic Lateral Sclerosis | |
5 | Angelman 氏症候羣(天使綜合徵) | Angelman Syndrome |
6 | 精氨酸酶缺乏症 | Arginase Deficiency |
7 | Asphyxiating Thoracic Dystrophy (Jeune Syndrome) | |
8 | Atypical Hemolytic Uremic Syndrome | |
9 | 自身免疫性腦炎 | Autoimmune Encephalitis |
10 | Autoimmune Hypophysitis | |
11 | Autoimmune Insulin Receptopathy (Type B insulin resistance) | |
12 | β-酮硫解酶缺乏症 | Beta-ketothiolase Deficiency |
13 | 生物素酶缺乏症 | Biotinidase Deficiency |
14 | Cardic Ion Channelopathies | |
15 | 原發性肉鹼缺乏症 | Carnitine Deficiency |
16 | Castleman Disease | |
17 | Charcot-Marie-Tooth Disease | |
18 | 瓜氨酸血癥 | Citrullinemia |
19 | Congenital Adrenal Hypoplasia | |
20 | Congenital Hyperinsulinemic Hypoglycemia | |
21 | Congenital Myasthenic Syndrome | |
22 | Congenital Myotonia Syndrome (Non-Dystrophic Myotonia, NDM) | |
23 | Congenital Scoliosis | |
24 | 冠狀動脈擴張病 | Coronary Artery Ectasia |
25 | Diamond-Blackfan Anemia | |
26 | Erdheim-Chester病 | Erdheim-Chester Disease |
27 | 法佈雷病 | Fabry Disease |
28 | Familial Mediterranean Fever | |
29 | 範可尼貧血 | Fanconi Anemia |
30 | Galactosemia | |
31 | Gaucher’s Disease | |
32 | 全身型重症肌無力 | Generalized Myasthenia Gravis |
33 | Gitelman 綜合徵 | Gitelman Syndrome |
34 | 戊二酸血癥I型 | Glutaric Acidemia Type I |
35 | 糖原累積病(I型、Ⅱ型) | Glycogen Storage Disease (Type I、II) |
36 | Hemophilia | |
37 | Hepatolenticular Degeneration(Wilson Disease) | |
38 | Hereditary Angioedema (HAE) | |
39 | Hereditary Epidermolysis Bullosa | |
40 | Hereditary Fructose Intolerance | |
41 | Hereditary Hypomagnesemia | |
42 | Hereditary Multi-infarct Dementia (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL) | |
43 | Hereditary Spastic Paraplegia | |
44 | 全羧化酶合成酶缺乏症 | Holocarboxylase Synthetase Deficiency |
45 | 同型半胱氨酸血癥 | Homocysteinemia |
46 | Homozygous Hypercholesterolemia | |
47 | Huntington Disease | |
48 | HHH綜合徵 | Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome |
49 | 高苯丙氨酸血癥 | Hyperphenylalaninemia |
50 | 低鹼性磷酸酶血癥 | Hypophosphatasia |
51 | 低磷性佝僂病 | Hypophosphatemic Rickets |
52 | 特發性心肌病 | Idiopathic Cardiomyopathy |
53 | Idiopathic Hypogonadotropic Hypogonadism | |
54 | 特發性肺動脈高壓 | Idiopathic Pulmonary Arterial Hypertension |
55 | Idiopathic Pulmonary Fibrosis | |
56 | IgG4相關性疾病 | IgG4 related Disease |
57 | Inborn Errors of Bile Acid Synthesis | |
58 | 異戊酸血癥 | Isovaleric Acidemia |
59 | 卡爾曼綜合徵 | Kallmann Syndrome |
60 | Langerhans Cell Histiocytosis | |
61 | 萊倫氏綜合徵 | Laron Syndrome |
62 | Leber Hereditary Optic Neuropathy | |
63 | 長鏈3-羥酰基輔酶A脫氫酶缺乏症 | Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency |
64 | Lymphangioleiomyomatosis (LAM) | |
65 | Lysinuric Protein Intolerance | |
66 | Lysosomal Acid Lipase Deficiency | |
67 | 楓糖尿症 | Maple Syrup Urine Disease |
68 | Marfan Syndrome | |
69 | McCune-Albrigh綜合徵 | McCune-Albright Syndrome |
70 | 中鏈酰基輔酶A脫氫酶缺乏症 | Medium Chain Acyl-CoA Dehydrogenase Deficiency |
71 | 甲基丙二酸血癥 | Methylmalonic Academia |
72 | Mitochodrial Encephalomyopathy | |
73 | Mucopolysaccharidosis | |
74 | Multifocal Motor Neuropathy | |
75 | 多種酰基輔酶A脫氫酶缺乏症 | Multiple Acyl-CoA Dehydrogenase Deficiency |
76 | Multiple Sclerosis | |
77 | Multiple System Atrophy | |
78 | Myotonic Dystrophy | |
79 | N-乙酰穀氨酸合成酶缺乏症 | N-acetylglutamate Synthase Deficiency |
80 | Neonatal Diabetes Mellitus | |
81 | Neuromyelitis Optica | |
82 | 尼曼匹克病 | Niemann-Pick Disease |
83 | Non-Syndromic Deafness | |
84 | Noonan綜合徵 | Noonan Syndrome |
85 | Ornithine Transcarbamylase Deficiency | |
86 | Osteogenesis Imperfecta (Brittle Bone Disease) | |
87 | 帕金森病(青年型、早髮型) | Parkinson Disease (Young-onset , Early-onset) |
88 | Paroxysmal Nocturnal Hemoglobinuria | |
89 | Peutz-Jeghers Syndrome | |
90 | Phenylketonuria | |
91 | POEMS Syndrome | |
92 | 卟啉病 | Porphyria |
93 | Prader-Willi綜合徵 | Prader-Willi Syndrome |
94 | Primary Combined Immune Deficiency | |
95 | Primary Hereditary Dystonia | |
96 | Primary Light Chain Amyloidosis | |
97 | 進行性家族性肝內膽汁淤積症 | Progressive Familial Intrahepatic Cholestasis |
98 | Progressive Muscular Dystrophy | |
99 | Propionic Acidemia | |
100 | Pulmonary Alveolar Proteinosis | |
101 | Pulmonary Cystic Fibrosis | |
102 | Retinitis Pigmentosa | |
103 | Retinoblastoma | |
104 | Severe Congenital Neutropenia | |
105 | Severe Myoclonic Epilepsy in Infancy (Dravet Syndrome) | |
106 | Sickle Cell Disease | |
107 | Silver-Russell綜合徵 | Silver-Russell Syndrome |
108 | 谷固醇血癥 | Sitosterolemia |
109 | Spinal and Bulbar Muscular Atrophy (Kennedy Disease) | |
110 | Spinal Muscular Atrophy | |
111 | Spinocerebellar Ataxia | |
112 | Systemic Sclerosis | |
113 | 四氫生物蝶呤缺乏症 | Tetrahydrobiopterin Deficiency |
114 | Tuberous Sclerosis Complex | |
115 | Tyrosinemia | |
116 | 極長鏈酰基輔酶A脫氫酶缺乏症 | Very Long Chain Acyl-CoA Dehydrogenase Deficiency |
117 | 威廉姆斯綜合徵 | Williams Syndrome |
118 | Wiskott-Aldrich Syndrome | |
119 | X-linked Agammaglobulinemia | |
120 | X-連鎖腎上腺腦白質營養不良 | X-linked Adrenoleukodystrophy |
121 | X-連鎖淋巴增生症 | X-linked Lymphoproliferative Disease |
5 解讀
爲貫徹落實中共中央辦公廳、國務院辦公廳《關於深化審評審批制度改革鼓勵藥品醫療器械創新的意見》,加強我國罕見病管理,提高罕見病診療水平,維護罕見病患者健康權益,近日,國家衛生健康委、科技部、工業和信息化部、國家藥品監督管理局和國家中醫藥管理局5部門聯合印發了《第一批罕見病目錄》。
該目錄根據我國人口疾病罹患情況、醫療技術水平、疾病負擔和保障水平等,參考國際經驗,由不同領域權威專家按照一定工作程序遴選產生。目錄廣泛徵求了相關部委和行業意見並達成一致。
第一批納入目錄的罕見病共121種。未來,各部門還將按照分批制訂、動態更新的工作方式,依據工作程序,逐步完善我國罕見病目錄,爲各部門開展相關工作提供依據,進一步維護人民羣衆健康權益。