哪些病症需做进一步评估才能确定是否满足N

　1.主要导致智力/学习障碍的病症

oAicardi-Goutièressyndrome智力残疾

oPervasivedevelopmentaldisordersnotmeetingseveritycriteriainListA。不符合列表A中严重性标准的普遍性发育障碍

oAspergersyndrome阿斯伯格综合症

oAtypicalautism非典型自闭症

oChildhoodautism儿童孤独症

列表A中未列出的由于染色体异常导致的永久性损害，包括：

oAicardi-Goutièressyndrome

oCHARGEsyndrome

oCockaynesyndromeTypesIandTypeII/Cerebro-oculo-faciao-skeletal(COFS)syndrome/PenaShokeirsyndromeTypeII/Weber-Cockaynesyndrome/Neill-Dingwallsyndrome)

oCohensyndrome

oDandy-Walkersyndrome

oDiGeorgesyndrome/22q11.2deletionsyndrome/Velocardiofacialsyndrome/Shprintzensyndrome/Conotruncalanomalyfacesyndrome

oDownsyndrome唐氏综合症

oFragileXsyndrome脆性X综合征

oKabukisyndrome歌舞伎综合症

oMenkesdisease门克斯病

oPrader-Willisyndrome

oSeckelsyndrome/microcephalicprimordialdwarfism/Harper’ssyndrome/Virchow-Seckeldwarfism侏儒症

oSmith-Lemli-Optizsyndrome

oSmith-Magenissyndrome

oSpinalmuscularatrophyTypesIIIandIV-脊髓性肌萎缩症III型和IV型

oSturge-Webersyndrome

oTrisomy9

oTuberoussclerosis结节状硬化症

oTurnersyndrome

oWilliamssyndrome

oWolf-Hirschhornsyndrome

2.主要导致神经损伤的病症

oAlzheimer’sdementia阿尔茨海默氏痴呆症

oCreutzfeldt-Jakobdisease克雅氏病

oHIVdementiaHIV痴呆症

oHuntington’sdisease亨廷顿舞蹈症

oMulti-infarctdementia多梗塞性痴呆症

oParkinson’sdisease帕金森病

oPost-poliosyndrome小儿麻痹后遗症

oVasculardementia血管性痴呆

主要影响中枢神经系统的系统性萎缩：

oAbetalipoproteinaemia

oAdult-onsetspinalmuscularatrophy/late-onsetSMAtypeIII)

oFazio-Londedisease/Progressivebulbarpalsyofchildhood

oFriedrich’sataxia

oHereditaryspasticparaplegia/Infantile-onsetascendinghereditaryspasticparalysis/L1syndrome/spasticparaplegiastypes2and11Huntington’sdisease/Huntington’schorea

oLouis-Barsyndrome/Ataxia-telangiectasia

oMotorneurondisease/Motorneuronedisease/LouGehrig’sdisease/Amyotrophiclateralsclerosis运动神经元疾病/运动神经元疾病/LouGehrig病/肌萎缩性侧索硬化症

oPrimarylateralsclerosis原发性侧索硬化

oProgressivebulbarpalsy进行性延髓麻痹

oSpinalmuscularatrophy所有类型脊髓性肌萎缩

oSpinocerebellarAtaxia–alltypes,includingMachado-Josephdisease所有类型脊髓小脑的共济失调

锥体外系和运动障碍

oHallervorden-Spatzsyndrome/Pantothenatekinase-associatedneurodegeneration(PKAN)/neurodegenerationwithbrainironaccumulation1(NBIA1)

oParkinson’sdisease帕金森病

oShy-Dragersyndrome/MultipleSystemAtrophy/Striatonigraldegeneration(MSA-P)/Sporadicolivopontocerebellaratrophy(MSA-C)

oSteele-Richardson-Olszewskisyndrome/Progressivesupranuclearophthalmoplegia

oStiff-mansyndrome/Stiff-personsyndrome僵硬综合症

其他退行性神经系统疾病

oAlzheimer’sdisease阿尔兹海默症

oAlpersdisease/Grey-matterdegeneration/Alperssyndrome/progressivesclerosingpoliodystrophy/progressiveinfantilepoliodystrophy

oLewybodydementia路易体痴呆症

oPick’sdisease皮克病

脱髓鞘的中枢神经系统疾病

oAdrenoleukodystrophy

oMultiplesclerosis多发性硬化症

oSchilder’sdisease/Diffusemyelinoclasticsclerosis–non-remitting

偶发性和阵发性疾病

oBrainstemstrokesyndrome脑干中风综合症

oCerebellarstrokesyndrome小脑中风综合症

oMotorandsensorylacunarsyndromes运动和感觉腔隙综合症

oLennoxsyndrome/Lennox-Gastautsyndrome

oWest’ssyndrome

多发性神经和外围神经系统疾病

oAdultRefsumdisease

oCharcot-Marie-Toothdisease/Hereditarymotorandsensoryneuropathy/peronealmuscularatrophy

oDejerine-Sottasdisease/Dejerine-Sottassyndrome/Dejerine-Sottasneuropathy/progressivehypertrophicinterstitialpolyneuropathyofchildhood/onionbulbneuropathy

oInfantileRefsumdisease

其他神经系统疾病

oHydrocephalus脑积水

oMultiplesystematrophy多系统萎缩

3.导致身体受损的情况

oAmputations截肢

oCongenitalabsenceoflimborpartthereof先天性缺肢

oEpidermolysisbullosa

oHarlequintypeicthyosis

oJuvenilearthritis/StillsDisease(excludingmonocyclic/self-limitedAdultOnsetStillsdisease)

oRheumatoidarthritis类风湿关节炎

肌肉交界处和肌肉疾病

oAndersen-Tawilsyndrome/Periodicparalysis/myoplegiaparoxysmalisfamiliaris

oBeckermusculardystrophy贝克肌营养不良症

oCongenitalmusculardystrophy先天性肌营养不良症

oDistalmusculardystrophy远端肌营养不良症

oDuchennemusculardystrophy

oFacioscapulohumeralmusculardystrophy

oLimb-girdlemusculardystrophy肢带肌萎缩症

oMitochondrialmyopathy线粒体肌病

oMyotonicdystrophy/dystrophiamyotonica

oMyotonicmusculardystrophy

oMyotubularmyopathy

oOculopharyngealmusculardystrophy

oParamyotoniaCongenita

oThomsensdisease/Congenitalmyotonia/Beckermyotonia)

不符合列表A严重性标准的脑性瘫痪和其他麻痹综合征

oCerebralpalsy脑瘫

oDiplegia双侧瘫

oHemiplegia偏瘫

oMonoplegia单瘫

oParaplegia截瘫

oQuadriplegia四肢瘫痪

oTetraplegia四肢瘫痪

4.导致感官和/或言语障碍的情况不符合列表A永久失明诊断标准的脉络膜和视网膜疾病：

oBehr’ssyndrome

oKearns-Sayresyndrome

oOpticatrophy视神经萎缩

oRetinitispigmentosa色素性视网膜炎

oRetinoschisis(degenerativeandhereditarytypes/juvenileretinoschisis)视网膜劈裂症

oStargardtdisease

oUshersyndrome

导致听力障碍的疾病

oCorticaldeafness

oPendredsyndrome

oSensorineuralhearingloss

oSticklersyndrome

oUshersyndrome

oWaardenburgsyndrome

5.导致多种类型的损害的情况

oAceruloplasminemia

oAddison-Schilderdisease/Adrenoleukodystrophy

oAlbinism白化病

oArginosuccinicaciduria

oAspartylglucosaminuria

oCerebrotendinousxanthomatosis/cerebralcholesterosis

oCongenitalcytomegalovirusinfection先天性巨细胞病毒感染

oCongenitaliodine-deficiencysyndrome/cretinism先天性碘缺乏症/克汀病

oCongenitalrubellasyndrome先天性风疹症

oGlycineencephalopathy/non-ketotichyperglycinaemia

oGM1gangliosidosis

oHartnupdisease

oHomocystinuria

oLowesyndrome/Oculocerebrorenalsyndrome

oMannosidosis

oMenkesdisease

oMucolipidosisII/I-celldisease

oMucolipidosisIII/pseudo-Hurlerpolydystrophy

oMucolipidosisIV

oNeuronalceroidlipofuscinosis(NCL)/Adulttype(Kuf’sorParry’sdisease)/Juvenile(Battendisease)/Lateinfantile(Jansky-Bielschowsky)

oNiemann-Pickdisease

oPyruvatecarboxylasedeficiency

oPyruvatedehydrogenasedeficiency

oSialidosis

oSulfiteoxidasedeficiency

以下列出的粘多糖症：

oScheiesyndrome/MPS1-H

oHurler-Scheiesyndrome/MPS1H-S

oHuntersyndrome/MPSII

oMorquiosyndrome/MPSIVA

oMaroteaux-Lamysyndrome/MPSVI

oSlysyndrome/MPSVII

先天性疾病-通过手术或其他治疗无法纠正畸形并导致永久性损伤但严重程度不等的病例：

oArnold-ChiariTypes2and3/Chiarimalformation

oMicrocephaly小头畸形

oFetalalcoholsyndrome胎儿酒精综合症

oFetalhydantoinsyndrome胎儿乙内酰脲综合症

oSpinabifida脊柱裂

oVATERsyndrome/VACTERLassociation

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