第二批罕见病目录2023版.docx

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1、第二批罕见病目录2023版序号疾病名称（中文）疾病名称（英文）1软骨发育不全Achondrop1asia2获得性血友病Acquiredhemophi1ia3肢端肥大症Acromega1y4成人斯蒂尔病Adu1t-onsetSti11disease5A1agi11e综合征A1agi11esyndrome6a-1-抗胰蛋白酶缺乏症A1pha-1-antitrypsindeficiency7ANCA相关性血管炎ANCA-associatedvascu1itis8Bardet-Bied1综合征Bardet-Bied1syndrome9白塞病/贝赫切特综合征BehqetSdisease10蓝色橡皮疱样痣

2、B1uerubberb1ebnevus11CDK15缺乏症CDK15-deficiencydisorder12无脉络膜症Choroideremia13慢性炎性脱髓鞘性多发性神经根神经病Chronicinf1ammatorydemye1inatingpo1yneuropathy14肾透明细胞肉瘤C1earce11sarcomaofkidney15冷凝集素病Co1dagg1utinindisease16先天性胆道闭锁Congenita1bi1iaryatresia17先天性凝血因子Vn缺乏症Congenita1factorVIIdeficiency18冷吐咻（冷炎素）相关周期性综合征/N1RP3相

3、关自身炎症性疾病Cryopyrinassociatedperiodicsyndrome/N1RP3-associatedsystemicautoinf1ammatorydisease19皮肤神经内分泌癌（梅克尔细胞癌）Cutaneousneuroendocrinecarcinoma(Merke1ce11carcinoma)20皮肤T细胞淋巴瘤CutaneousT-ce111ymphomas21胱氨酸贮积症Cystinosis22隆突性皮肤纤维肉瘤DermatofIbrosarcomaprotuberans23嗜酸性粒细胞性胃肠炎Eosinophi1icgastroenteritis24上皮样肉

4、瘤Epithe1ioidsarcoma25面肩肱型肌营养不良症Facioscapu1ohumera1muscu1ardystrophy26家族性噬血细胞淋巴组织细胞增生症Fami1ia1hemophagocyticIymphohistiocytosis27家族性腺瘤性息肉病Fami1ia1adenomatouspo1yposis28进行性骨化性纤维发育不良Fibrodysp1asiaossificansprogressiva29脆性X综合征Fragi1eXsyndrome30神经节昔脂贮积症Gang1iosidosis31胃肠胰神经内分泌肿瘤Gastroenteropancreaticneur

5、oendocrineneop1asm32胃肠间质瘤Gastrointestina1stroma1tumor33泛发性脓疱型银屑病Genera1izedpustu1arpsoriasis34遗传性甲状旁腺功能减退症Genetichypoparathyroidism35巨细胞动脉炎Giantce11arteritis序号疾病名称（中文）疾病名称（英文）36骨巨细胞瘤Giantce11tumorofbone37血小板无力症G1anzmannthrombasthenia38胶质母细胞瘤G1iob1astoma39高林综合征Gor1insyndrome40化脓性汗腺炎Hidradenitissuppur

6、ativa41早老症Hutchinson-Gi1fordprogeriasyndrome42炎性肌纤维母细胞瘤Inf1ammatorymyofibrob1astictumor431eber先天性黑朦1ebercongenita1amaurosis441ennox-Gastaut综合征1ennox-Gastautsyndrome45角膜缘干细胞缺乏症1imba1stemce11deficiency46恶性高热Ma1ignanthyperthermia47恶性胸膜间皮瘤Ma1ignantp1eura1mesothe1ioma48黑色素瘤Me1anoma49异染性脑白质营养不良Metachromat

7、ic1eukodystrophy50单基因非综合征性肥胖Monogenicnon-syndromicobesity51多发性内分泌腺瘤病Mu1tip1eendocrineneop1asia52发作性睡病Narco1epsy53神经母细胞瘤Neurob1astoma54神经纤维瘤病NeurofIbromatosis55神经元蜡样脂褐质沉积症Neurona1ceroid1ipofuscinosis56神经营养性角膜炎Neurotrophickeratitis57骨肉瘤Osteosarcoma58天疱疮Pemphigus59新生儿持续肺动脉高压Persistentpu1monaryhypertens

8、ionofthenewborn60嗜铭细胞瘤Pheochromocytoma61PIK3CA相关过度生长综合征PIK3CAre1atedovergrowthsyndrome62真性红细胞增多症Po1ycythaemiavera63原发性胆汁性胆管炎Primarybi1iarycho1angitis64原发性生长激素缺乏症Primarygrowthhormonedeficiency65原发性胰岛素样生长因子T缺乏症PrimaryIGF1deficiency66原发性免疫缺陷Primaryimmunodeficiency67原发性骨髓纤维化Primarymye1ofibrosis68原发性硬化性胆

9、管炎Primarysc1erosingcho1angitis69进行性纤维化性间质性肺疾病Progressivefibrosinginterstitia11ungdisease70复发性心包炎Recurrentpericarditis71早产儿视网膜病Retinopathyofprematurity72Rett综合征Rettsyndrome73短肠综合征Shortbowe1syndrome74全身型幼年特发性关节炎Systemicjuveni1eidiopathicarthritis75系统性肥大细胞增多症Systemicmastocytosis76大动脉炎/多发性大动脉炎Takayasuar

10、teritis序号疾病名称（中文）疾病名称（英文）77腱鞘巨细胞瘤/色素沉着绒毛结节性滑膜炎Tenosynovia1giantce11tumor/Pigmentedvi11onodu1arsynovitis78地中海贫血（重型）Tha1assemiamajor79血栓性血小板减少性紫瘢Thromboticthrombocytopenicpurpura80转甲状腺素蛋白淀粉样变性Transthyretinamy1oidosis81肿瘤坏死因子受体相关周期性综合征Tumornecrosisfactorreceptorassociatedperiodicsyndrome82肿瘤相关骨软化症Tumor-inducedosteoma1acia83VonHippe1-1indau综合征VonHippe1-1indausyndrome84血管性血友病In型VonWi11ebranddiseasetype385华氏巨球蛋白血症/淋巴浆细胞淋巴瘤Wa1denstrommacrog1obu1inemia1ymphopIasmacytic1ymphoma86West综合征/婴儿痉挛综合征Westsyndrome/Infanti1espasmssyndrome2023-09-20o