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国家罕见病目录一览表

发布时间：2023-01-23 13:45:39 来源：文档文库

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2018年国家罕见病目录一览表序号1234中文名称21-羟化酶缺乏症白化病Alport综合征肌萎缩侧索硬化Angelman?氏症候群（天使综合征）精氨酸酶缺乏症英文名称21-HydroxylaseDeficiencyAlbinismAlportSyndromeAmyotrophicLateralSclerosis5AngelmanSyndrome6ArginaseDeficiency7热纳综合征（窒息性胸腔失AsphyxiatingThoracicDystrophy养症）非典型溶血性尿毒症自身免疫性脑炎自身免疫性垂体炎(JeuneSyndromeAtypicalHemolyticUremicSyndromeAutoimmuneEncephalitisAutoimmuneHypophysitisAutoimmuneInsulinReceptopathy(TypeBinsulinresistanceBeta-ketothiolaseDeficiencyBiotinidaseDeficiencyCardicIonChannelopathiesCarnitineDeficiencyCastlemanDiseaseCharcot-Marie-ToothDiseaseCitrullinemiaCongenitalAdrenalHypoplasia891011自身免疫性胰岛素受体病1213141516171819β-酮硫解酶缺乏症生物素酶缺乏症心脏离子通道病原发性肉碱缺乏症Castleman病腓骨肌萎缩症瓜氨酸血症先天性肾上腺发育不良先天性高胰岛素性低血糖血症20CongenitalHyperinsulinemicHypoglycemia
21先天性肌无力综合征先天性肌强直（非营养不良性肌强直综合征）先天性脊柱侧弯冠状动脉扩张病先天性纯红细胞再生障碍性贫血Erdheim-Chester病法布雷病家族性地中海热范可尼贫血半乳糖血症戈谢病全身型重症肌无力Gitelman?综合征戊二酸血症I型CongenitalMyasthenicSyndrome22CongenitalMyotoniaSyndrome(Non-DystrophicMyotonia,NDM2324CongenitalScoliosisCoronaryArteryEctasia25Diamond-BlackfanAnemia26272829303132333435363738394041Erdheim-ChesterDiseaseFabryDiseaseFamilialMediterraneanFeverFanconiAnemiaGalactosemiaGaucher’sDiseaseGeneralizedMyastheniaGravisGitelmanSyndromeGlutaricAcidemiaTypeI糖原累积病（I型、Ⅱ型）GlycogenStorageDisease(TypeI、II）血友病肝豆状核变性遗传性血管性水肿遗传性大疱性表皮松解症遗传性果糖不耐受症遗传性低镁血症HemophiliaHepatolenticularDegeneration(WilsonDiseaseHereditaryAngioedema(HAEHereditaryEpidermolysisBullosaHereditaryFructoseIntoleranceHereditaryHypomagnesemiaHereditaryMulti-infarctDementia(CerebralAutosomalDominantArteriopathywithSubcorticalInfarctsandLeukoencephalopathy,CADASILHereditarySpasticParaplegiaHolocarboxylaseSynthetaseDeficiency42遗传性多发脑梗死性痴呆4344遗传性痉挛性截瘫全羧化酶合成酶缺乏症

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