国家卫生健康委员会等6部门联合制定

序号疾病名称(中文)疾病名称(英文)
1软骨发育不全Achondroplasia
2获得性血友病Acquired hemophilia
3肢端肥大症Acromegaly
4成人斯蒂尔病Adult-onset Still disease
5阿拉基综合征Alagille syndrome
6α-抗胰蛋白酶缺乏症Alpha-1-antitrypsin deficiency
7ANCA相关性血管炎ANCA-associated vasculitis
8巴尔得一别德尔综合征Bardet-Biedl syndrome
9白塞病/贝赫切特综合征Behçet’s disease
10蓝色橡皮疱样痣Blue rubber bleb nevus
11CDKL5缺乏症CDKL5-deficiency disorder
12无脉络膜症Choroideremia
13慢性炎性脱髓鞘性多发性神经根神经病Chronic inflammatory demyelinating polyneuropathy
14肾透明细胞肉瘤Clear cell sarcoma of kidney
15冷凝集素病Cold agglutinin disease
16先天性胆道闭锁Congenital biliary atresia
17先天性凝血因子VII缺乏症Congenital factor VII deficiency
18冷吡啉(冷炎素)相关周期性综合征/ NLRP3相关自身炎症性疾病Cryopyrin associated periodic syndrome/ NLRP3-associated systemic autoinflammatory disease
19皮肤神经内分泌癌(梅克尔细胞癌)Cutaneous neuroendocrine carcinoma(Merkel cell carcinoma)
20皮肤T细胞淋巴瘤Cutaneous T-cell lymphomas
21胱氨酸贮积症Cystinosis
22隆突性皮肤纤维肉瘤Dermatofibrosarcoma protuberans
23嗜酸性粒细胞性胃肠炎Eosinophilic gastroenteritis
24上皮样肉瘤Epithelioid sarcoma
25面肩肱型肌营养不良症Facioscapulohumeral muscular dystrophy
26家族性噬血细胞淋巴组织细胞增生症Familial hemophagocytic lymphohistiocytosis
27家族性腺瘤性息肉病Familial adenomatous polyposis
28进行性骨化性纤维发育不良Fibrodysplasia ossificans progressiva
29脆性X综合征Fragile X syndrome
30神经节苷脂贮积症Gangliosidosis
31胃肠胰神经内分泌肿瘤Gastroenteropancreatic neuroendocrine neoplasm
32胃肠间质瘤Gastrointestinal stromal tumor
33泛发性脓疱型银屑病Generalized pustular psoriasis
34遗传性甲状旁腺功能减退症Genetic hypoparathyroidism
35巨细胞动脉炎Giant cell arteritis
36骨巨细胞瘤Giant cell tumor of bone
37血小板无力症Glanzmann thrombasthenia
38胶质母细胞瘤Glioblastoma
39高林综合征Gorlin syndrome
40化脓性汗腺炎Hidradenitis suppurativa
41早老症Hutchinson-Gilford progeria syndrome
42炎性肌纤维母细胞瘤Inflammatory myofibroblastic tumor
43莱伯氏先天性黑蒙症Leber congenital amaurosis
44伦诺克斯-加斯托综合症Lennox-Gastaut syndrome
45角膜缘干细胞缺乏症Limbal stem cell deficiency
46恶性高热Malignant hyperthermia
47恶性胸膜间皮瘤Malignant pleural mesothelioma
48黑色素瘤Melanoma
49异染性脑白质营养不良Metachromatic leukodystrophy
50单基因非综合征性肥胖Monogenic non-syndromic obesity
51多发性内分泌腺瘤病Multiple endocrine neoplasia
52发作性睡病Narcolepsy
53神经母细胞瘤Neuroblastoma
54神经纤维瘤病Neurofibromatosis
55神经元蜡样脂褐质沉积症Neuronal ceroid lipofuscinosis
56神经营养性角膜炎Neurotrophic keratitis
57骨肉瘤Osteosarcoma
58天疱疮Pemphigus
59新生儿持续肺动脉高压Persistent pulmonary hypertension of the newborn
60嗜铬细胞瘤Pheochromocytoma
61PIK3CA相关过度生长综合征PIK3CA-related overgrowth syndrome
62真性红细胞增多症Polycythaemia vera
63原发性胆汁性胆管炎Primary biliary cholangitis
64原发性生长激素缺乏症Primary growth hormone deficiency
65原发性胰岛素样生长因子-1缺乏症Primary IGF1 deficiency
66原发性免疫缺陷Primary immunodeficiency
67原发性骨髓纤维化Primary myelofibrosis
68原发性硬化性胆管炎Primary sclerosing cholangitis
69进行性纤维化性间质性肺疾病Progressive fibrosing interstitial lung disease
70复发性心包炎Recurrent pericarditis
71早产儿视网膜病Retinopathy of prematurity
72雷特氏综合征Rett syndrome
73短肠综合征Short bowel syndrome
74全身型幼年特发性关节炎Systemic juvenile idiopathic arthritis
75系统性肥大细胞增多症Systemic mastocytosis
76大动脉炎/多发性大动脉炎Takayasu arteritis
77腱鞘巨细胞瘤/色素沉着绒毛结节性滑膜炎Tenosynovial giant cell tumor/Pigmented villonodular synovitis
78地中海贫血(重型)Thalassemia major
79血栓性血小板减少性紫癜Thrombotic thrombocytopenic purpura
80转甲状腺素蛋白淀粉样变性Transthyretin amyloidosis
81肿瘤坏死因子受体相关周期性综合征Tumor necrosis factor receptor-associated periodic syndrome
82肿瘤相关骨软化症Tumor-induced osteomalacia
83希佩尔-林道综合征Von Hippel-Lindau syndrome
84血管性血友病Von Willebrand disease type3
85华氏巨球蛋白血症/淋巴浆细胞淋巴瘤Waldenström macroglobulinemia/ Lymphoplasmacytic lymphoma
86韦斯特综合征/婴儿痉挛综合征West syndrome/Infantile spasms syndrome

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