第二批罕見(jiàn)病目錄2023版

第二批罕見(jiàn)病目錄2023版疾病名稱(chēng)(中文)疾病名稱(chēng)(英文)12獲得性血友病34成人斯蒂爾病Adult-onsetStilldisease56Alpha-1-antitrypsindeficien7ANCA-associatedvasculi89白塞病/貝赫切特綜合征CDKL5-deficiencydi慢性炎性脫髓鞘性多發(fā)性神經(jīng)根神經(jīng)病Chronicinflammatorydemyelinatingpolyne腎透明細(xì)胞肉瘤冷凝集素病先天性膽道閉鎖先天性凝血因子VII缺乏癥CryopyrinassociatedperiodicsynNLRP3-associatedsystemicautoinflammatorydisease皮膚神經(jīng)內(nèi)分泌癌(梅克爾細(xì)胞癌)Cutaneousneuroendocrinecarcinoma(Merkelce皮膚T細(xì)胞淋巴瘤隆突性皮膚纖維肉瘤Dermatofibrosarcomaprotu嗜酸性粒細(xì)胞性胃腸炎上皮樣肉瘤FacioscapulohumeralmusculardystFamilialhemophagocyticlymphohistioc家族性腺瘤性息肉病Familialadenomatouspol進(jìn)行性骨化性纖維發(fā)育不良Fibrodysplasiaossificansprogr胃腸胰神經(jīng)內(nèi)分泌腫瘤Gastroenteropancreaticneuroendocrinen胃腸間質(zhì)瘤泛發(fā)性膿皰型銀屑病GeneralizedpustularpsoriasGenetichypoparathy巨細(xì)胞動(dòng)脈炎疾病名稱(chēng)(中文)疾病名稱(chēng)(英文)高林綜合征化膿性汗腺炎HidradenitissuppurHutchinson-Gilfordprogeriasyndr炎性肌纖維母細(xì)胞瘤角膜緣干細(xì)胞缺乏癥惡性高熱MalignanthypertherMalignantpleuralmesotheli黑色素瘤異染性腦白質(zhì)營(yíng)養(yǎng)不良MetachromaticleukodystropMonogenicnon-syndromicobesi多發(fā)性內(nèi)分泌腺瘤病Multipleendocrineneopla發(fā)作性睡病神經(jīng)纖維瘤病神經(jīng)營(yíng)養(yǎng)性角膜炎Neurotrophickerati天皰瘡Persistentpulmonaryhypertensionof嗜鉻細(xì)胞瘤真性紅細(xì)胞增多癥原發(fā)性膽汁性膽管炎Primarybiliarychola原發(fā)性生長(zhǎng)激素缺乏癥原發(fā)性胰島素樣生長(zhǎng)因子-1缺乏癥原發(fā)性免疫缺陷原發(fā)性骨髓纖維化原發(fā)性硬化性膽管炎進(jìn)行性纖維化性間質(zhì)性肺疾病復(fù)發(fā)性心包炎早產(chǎn)兒視網(wǎng)膜病Retinopathyofprem全身型幼年特發(fā)性關(guān)節(jié)炎系統(tǒng)性肥大細(xì)胞增多癥大動(dòng)脈炎/多發(fā)性大動(dòng)脈炎序號(hào)疾病名稱(chēng)(中文)疾病名稱(chēng)(英文)膜炎地中海貧血(重型)ThromboticthrombocytopenicTumornecrosisfactorreceptorassociatedpTumor-inducedosteoVonHippel