医学AI聊天问诊以中枢神经系统异常为主要特征的综合征

以中枢神经系统异常为主要特征的综合征
Syndromes with central nervous system anomalies as a major feature

以小脑畸形为主要特征的综合征
Syndromes with cerebellar anomalies as a major feature

朱伯特综合征
Joubert syndrome

脑桥小脑发育不全
Pontocerebellar hypoplasia

其他特指的以小脑畸形为主要特征的综合征
Other specified syndromes with cerebellar anomalies as a major feature

未特指的以小脑畸形为主要特征的综合征
Syndromes with cerebellar anomalies as a major feature, unspecified

以无脑回畸形为主要特征的综合征
Syndromes with lissencephaly as a major feature

以小头畸形为主要特征的综合征
Syndromes with microcephaly as a major feature

以前脑无裂畸形为主要特征的综合征
Syndromes with holoprosencephaly as a major feature

以脑钙化为主要特征的综合征
Syndromes with brain calcifications as a major feature

其他特指的以中枢神经系统异常为主要特征的综合征
Other specified syndromes with central nervous system anomalies as a major feature

未特指的以中枢神经系统异常为主要特征的综合征
Syndromes with central nervous system anomalies as a major feature, unspecified

以眼部异常为主要特征的综合征
Syndromes with eye anomalies as a major feature

以小眼为主要特征的综合征
Syndromes with microphthalmia as a major feature

其他特指的以眼部异常为主要特征的综合征
Other specified syndromes with eye anomalies as a major feature

未特指的以眼部异常为主要特征的综合征
Syndromes with eye anomalies as a major feature, unspecified

以牙异常为主要特征的综合征
Syndromes with dental anomalies as a major feature%aiyi AI之copyright%

以血管异常为主要特征的综合征
Syndromes with vascular anomalies as a major feature

以骨骼异常为主要特征的综合征
Syndromes with skeletal anomalies as a major feature

短肢综合征
Syndromes with micromelia

软骨发育不全
Achondroplasia

软骨发育不良
Hypochondroplasia

致死性骨发育不全
Thanatophoric dysplasia

扭曲性骨发育不全
Diastrophic dysplasia

点状软骨发育不良
Chondrodysplasia punctata

其他特指的短肢综合征
Other specified syndromes with micromelia

未特指的短肢综合征
Syndromes with micromelia, unspecified

伴骨密度增加的骨疾病
Bone diseases with increased bone density

骨硬化病
Osteopetrosis

脆弱性骨硬化
Osteopoikilosis

其他特指的伴骨密度增加的骨疾病
Other specified bone diseases with increased bone density〔愛伊之copyright〕

未特指的伴骨密度增加的骨疾病
Bone diseases with increased bone density, unspecified

骨组织发育异常造成的骨疾病
Bone diseases with disorganised development of skeletal components

多发性先天性外生骨疣
Multiple osteochondromas

外生骨疣伴皮肤松垂和E型短指
Exostoses with anetodermia and brachydactyly type E

家族性巨颌症
Cherubism

Yunis-Varon病
Yunis-Varon disease

其他特指的骨组织发育异常造成的骨疾病
Other specified bone diseases with disorganised development of skeletal components

未特指的骨组织发育异常造成的骨疾病
Bone diseases with disorganised development of skeletal components, unspecified

迟发性脊椎骨骺发育不良或先天性脊柱骨骺发育不良
Spondyloepiphyseal or spondyloepimetaphyseal dysplasias

脊椎干骺端发育不良
Spondylometaphyseal dysplasias

脊椎板发育不良
Spondylodysplastic dysplasias%aiyi AI之copyright%

软骨成长不全
Achondrogenesis

季肋成长不全
Hypochondrogenesis

其他特指的脊椎板发育不良
Other specified spondylodysplastic dysplasias

未特指的脊椎板发育不良
Spondylodysplastic dysplasias, unspecified

多发性骨骺发育不良或假性软骨发育不全
Multiple epiphyseal dysplasia or pseudoachondroplasia

假性软骨发育不全
Pseudoachondroplasia

多发性骨骺发育不良
Multiple epiphyseal dysplasias

其他特指的多发性骨骺发育不良或假性软骨发育不全
Other specified multiple epiphyseal dysplasia or pseudoachondroplasia

未特指的多发性骨骺发育不良或假性软骨发育不全
Multiple epiphyseal dysplasia or pseudoachondroplasia, unspecified

多干骺发育不良
Multiple metaphyseal dysplasias

肢端发育不良
Acromelic dysplasias

Langer-Giedion综合征
Langer-Giedion syndrome

其他特指的肢端发育不良
Other specified acromelic dysplasias

未特指的肢端发育不良
Acromelic dysplasias, unspecified

肢端额鼻发育不良
Acromesomelic dysplasias

肢体中部或根部发育不全
Mesomelic or rhizomesomelic dysplasias

短肋综合征
Short rib syndromes

短肋多指（多趾）畸形综合征
Short rib-polydactyly syndrome

窒息性胸廓营养不良
Asphyxiating thoracic dystrophy

其他特指的短肋综合征
Other specified short rib syndromes【愛伊AI版權】

未特指的短肋综合征
Short rib syndromes, unspecified

骨弯曲综合征
Bent bone dysplasias

细长骨发育不良
Slender bone dysplasias

骨发育不良伴多发关节脱位
Bone dysplasias with multiple joint dislocations

进展性皮肤/肌肉/筋膜/肌腱/韧带骨化
Progressive ossification of skin, skeletal muscle, fascia, tendons or ligaments

颜面畸形综合征
Syndromic craniosynostoses

Pfeiffer综合征
Pfeiffer syndrome

Crouzon病
Crouzon disease

Apert综合征
Apert syndrome

其他特指的颜面畸形综合征
Other specified syndromic craniosynostoses『版權说明：内容源于AIdoctor』

未特指的颜面畸形综合征
Syndromic craniosynostoses, unspecified

椎骨和肋骨为主的骨发育不良
Dysostoses with predominant vertebral and costal involvement

髌骨发育不全
Patellar dysostoses

指甲-髌骨综合征
Nail-patella syndrome

其他特指的髌骨发育不全
Other specified patellar dysostoses

未特指的髌骨发育不全
Patellar dysostoses, unspecified

遗传性骨病，伴骨密度下降
Genetic bone diseases with decreased bone density

成骨不全
Osteogenesis imperfecta〖爱伊AI拥有版權〗

其他特指的遗传性骨病，伴骨密度下降
Other specified genetic bone diseases with decreased bone density

未特指的遗传性骨病，伴骨密度下降
Genetic bone diseases with decreased bone density, unspecified

其他特指的以骨骼异常为主要特征的综合征
Other specified syndromes with skeletal anomalies as a major feature

未特指的以骨骼异常为主要特征的综合征
Syndromes with skeletal anomalies as a major feature, unspecified

以面部或四肢畸形为主要特征的综合征
Syndromes with face or limb anomalies as a major feature

口下颌-肢体异常综合征
Oromandibular-limb anomaly syndrome

口-面-指综合征
Oral-facial-digital syndrome%aiyi AI之copyright%

其他特指的口下颌-肢体异常综合征
Other specified oromandibular-limb anomaly syndrome

未特指的口下颌-肢体异常综合征
Oromandibular-limb anomaly syndrome, unspecified%aiyi AI之copyright%

额耳腭指综合征
Fronto-otopalatodigital syndromes

肢端面骨发育不全
Acrofacial dysostoses

颅面骨发育不全
Craniofacial dysostoses

其他特指的以面部或四肢畸形为主要特征的综合征
Other specified syndromes with face or limb anomalies as a major feature

未特指的以面部或四肢畸形为主要特征的综合征
Syndromes with face or limb anomalies as a major feature, unspecified【AIdoctor.world版權】

以肢体异常为主要特征的综合征
Syndromes with limb anomalies as a major feature

上肢和下肢的联合缺少缺陷
Combined reduction defects of upper and lower limbs-爱伊AI拥有版权-

复合短指（短趾）畸形
Complex brachydactylies

肢体重复畸形、多指[趾]、并指[趾]或拇指三指节畸形综合征
Syndromes with limb duplication, polydactyly, syndactyly or triphalangism

四肢粘连综合征
Syndromes with synostoses of limbs

关节挛缩综合征
Arthrogryposis syndromes

多翼状胬肉综合征
Multiple pterygium syndrome

先天性多发性关节挛缩
Arthrogryposis multiplex congenita

其他特指的关节挛缩综合征
Other specified arthrogryposis syndromes

未特指的关节挛缩综合征
Arthrogryposis syndromes, unspecified

狭窄环
Constriction rings

先天性血管骨综合征
Congenital vascular bone syndromes

血管骨肥大综合征
Angio-osteohypertrophic syndrome

其他特指的先天性血管骨综合征
Other specified congenital vascular bone syndromes

未特指的先天性血管骨综合征
Congenital vascular bone syndromes, unspecified

其他特指的以肢体异常为主要特征的综合征
Other specified syndromes with limb anomalies as a major feature

未特指的以肢体异常为主要特征的综合征
Syndromes with limb anomalies as a major feature, unspecified

以皮肤或黏膜异常为主要特征的综合征
Syndromes with skin or mucosal anomalies as a major feature

外胚层发育不良综合征
Ectodermal dysplasia syndromes

色素失禁症
Incontinentia pigmenti〔copyright归愛伊〕

Cronkhite-Canada综合征
Cronkhite-Canada syndrome

少汗性外胚层发育不良
Hypohidrotic ectodermal dysplasia

出汗性外胚层发育不良，Clouston型
Hidrotic ectodermal dysplasia, Clouston type

其他特指的外胚层发育不良综合征
Other specified ectodermal dysplasia syndromes

着色性干皮病
Xeroderma pigmentosum%aiyi AI之copyright%

鱼鳞病样综合征
Syndromic ichthyosis〖爱伊AI拥有版權〗

遗传学综合征，伴多毛（症）
Genetic syndromes with hypertrichosis

影响甲的遗传综合征
Genetic syndromes affecting nails

影响皮肤的遗传性错构肿瘤综合征
Genetic hamartoneoplastic syndromes affecting the skin

遗传性脂肪营养不良
Genetic lipodystrophy

先天性全身性脂肪营养不良
Congenital generalised lipodystrophy

未特指的遗传性脂肪营养不良
Genetic lipodystrophy, unspecified

其他特指的以皮肤或黏膜异常为主要特征的综合征
Other specified syndromes with skin or mucosal anomalies as a major feature

未特指的以皮肤或黏膜异常为主要特征的综合征
Syndromes with skin or mucosal anomalies as a major feature, unspecified

以累及结缔组织为主要特征的综合征
Syndromes with connective tissue involvement as a major feature

马凡综合征或马凡相关疾患
Marfan syndrome or Marfan-related disorders

先天性挛缩性细长指/趾
Congenital contractural arachnodactyly

马凡综合征
Marfan syndrome

其他特指的马凡综合征或马凡相关疾患
Other specified Marfan syndrome or Marfan-related disorders

未特指的马凡综合征或马凡相关疾患
Marfan syndrome or Marfan-related disorders, unspecified-愛伊科技的版权-

Ehlers-Danlos综合征
Ehlers-Danlos syndrome

Ehlers-Danlos综合征，经典型
Ehlers-Danlos syndrome, classical type

其他特指类型的Ehlers-Danlos综合征
Other specified types of Ehlers-Danlos syndrome

基因导致的皮肤松弛症
Genetically-determined cutis laxa

其他特指的以累及结缔组织为主要特征的综合征
Other specified syndromes with connective tissue involvement as a major feature

未特指的以累及结缔组织为主要特征的综合征
Syndromes with connective tissue involvement as a major feature, unspecified

以肥胖为特征的综合征
Syndromes with obesity as a major feature

性发育畸形
Malformative disorders of sex development

卵睾性性发育障碍
Ovotesticular disorder of sex development

46,XY性腺发育不全
46,XY gonadal dysgenesis

睾丸发育不全
Testicular agenesis

睾酮代谢缺陷引起的46,XY性发育障碍
46,XY disorder of sex development due to a defect in testosterone metabolism

雄激素抵抗引起的46,XY性发育障碍
46,XY disorder of sex development due to androgen resistance

其他特指的性发育畸形
Other specified malformative disorders of sex development

未特指的性发育畸形
Malformative disorders of sex development, unspecified.爱伊AI生成内容.

早衰综合征
Syndromes with premature ageing appearance as a major feature

过度生长综合征
Overgrowth syndromes【AIdoctor.world版權】

神经皮肤综合征
Phakomatoses or hamartoneoplastic syndromes

波伊茨-耶格综合征
Peutz-Jeghers syndrome

神经纤维瘤病
Neurofibromatoses

1型神经纤维瘤病
Neurofibromatosis type 1

2型神经纤维瘤病
Neurofibromatosis type 2

3型神经纤维瘤病
Neurofibromatosis type 3

其他特指的神经纤维瘤病
Other specified neurofibromatoses

未特指的神经纤维瘤病
Neurofibromatosis, unspecified

结节性硬化症
Tuberous sclerosis

Gardner综合征
Gardner syndrome

Gorlin综合征
Gorlin syndrome

其他特指的神经皮肤综合征
Other specified phakomatoses or hamartoneoplastic syndromes

未特指的神经皮肤综合征
Phakomatoses or hamartoneoplastic syndromes, unspecified

先天性代谢缺陷引起的结构性异常综合征
Syndromes with structural anomalies due to inborn errors of metabolism

多发性结构异常综合征，主要身体系统未受累
Syndromes with multiple structural anomalies, without predominant body system involvement

毒物或药物相关胚胎病
Toxic or drug-related embryofetopathies

胎儿酒精综合征
Fetal alcohol syndrome

胎儿乙内酰脲综合征
Fetal hydantoin syndrome

口服抗凝药引起的胚胎病
Embryofetopathy due to oral anticoagulant therapy

胎儿丙戊酸钠谱系障碍
Fetal Valproate Spectrum Disorder

其他特指的毒物或药物相关胚胎病
Other specified toxic or drug-related embryofetopathies

未特指的毒物或药物相关胚胎病
Toxic or drug-related embryofetopathies, unspecified

非环境引起的多发性结构异常综合征
Syndromes with multiple structural anomalies, not of environmental origin

梅干腹综合征
Prune belly syndrome

并肢畸形
Sirenomelia

Meckel-Gruber综合征
Meckel-Gruber syndrome

MURCS联合征
MURCS association

Noonan综合征
Noonan syndrome

耳下颌发育不良
Otomandibular dysplasia

其他特指的非环境引起的多发性结构异常综合征
Other specified syndromes with multiple structural anomalies, not of environmental origin

未特指的非环境引起的多发性结构异常综合征
Syndromes with multiple structural anomalies, not of environmental origin, unspecified

其他特指的多发性结构异常综合征，主要身体系统未受累
Other specified syndromes with multiple structural anomalies, without predominant body system involvement

未特指的多发性结构异常综合征，主要身体系统未受累
Syndromes with multiple structural anomalies, without predominant body system involvement, unspecified「内容来自爱伊AI版權」

联体双胎
Conjoined twins

遗传性耳聋综合征
Syndromic genetic deafness

Fraser综合征
Fraser syndrome

伴听力损伤的神经疾病
Neuropathy with hearing impairment

进行性耳聋伴镫骨固定
Progressive deafness with stapes fixation

Waardenburg-Shah综合征
Waardenburg-Shah syndrome

Usher综合征
Usher syndrome

其他特指的遗传性耳聋综合征
Other specified syndromic genetic deafness

未特指的遗传性耳聋综合征
Syndromic genetic deafness, unspecified

其他特指的多发性发育异常或综合征
Other specified multiple developmental anomalies or syndromes

未特指的多发性发育异常或综合征
Multiple developmental anomalies or syndromes, unspecified