TaoMedAI/RareMedData huggingface dataset:
HP:0011131: Perianal dermatitis / 肛周皮炎
HP:0011132: Chronic furunculosis / 慢性疖病
HP:0011133: Increased sensitivity to ionizing radiation / 电离辐射敏感性增强
HP:0011134: Low-grade fever / 低热
HP:0011135: Aplasia/Hypoplasia of the sweat glands / 汗腺发育缺陷/不全
HP:0011136: Aplasia of the sweat glands / 汗腺发育不全
HP:0011137: Non-pruritic urticaria / 非瘙痒性荨麻疹
HP:0011138: Abnormality of skin adnexa morphology / 皮肤附属器的异常
HP:0011139: Gastric duplication / 胃重复
HP:0011140: Gastrointestinal duplication / 胃肠重复
HP:0011141: Age-related cataract / 年龄相关性白内障
HP:0011142: Age-related nuclear cataract / 年龄相关的核性白内障
HP:0011143: Age-related cortical cataract / 年龄相关性皮质白内障
HP:0011144: Age-related posterior subcapsular cataract / 年龄相关后囊下白内障
HP:0011145: Symptomatic seizures / 症状性癫痫发作
HP:0011146: Dialeptic seizure / 愣神发作
HP:0011147: Typical absence seizure / 典型的失神发作
HP:0011149: Absence seizure with eyelid myoclonia / 失神发作伴眼睑肌阵挛
HP:0011150: Myoclonic absence seizure / 肌阵挛失神发作
HP:0011151: Atypical absence status epilepticus / 非典型失神癫痫持续状态
HP:0011152: Early onset absence seizures / 早发性失神发作
HP:0011153: Focal motor seizure / 局灶性运动性癫痫发作
HP:0011154: Focal autonomic seizure / 局灶性自主神经癫痫发作
HP:0011157: Focal sensory seizure / 局灶性感觉性发作
HP:0011158: Focal sensory seizure with auditory features / 伴有听觉特征的局灶性感觉发作
HP:0011159: Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena / 局灶性自主神经性癫痫发作伴上腹部感觉/恶心/呕吐/其他胃肠道现象
HP:0011160: Focal sensory seizure with gustatory features / 出现味觉异常的局灶性癫痫
HP:0011161: Focal sensory seizure with olfactory features / 有嗅觉特征的局灶性感觉癫痫
HP:0011163: Focal sensory seizure with somatosensory features / 伴躯体感觉特征的局灶性感觉性癫痫发作
HP:0011165: Focal sensory seizure with visual features / 伴有视觉特征的局灶性感觉发作
HP:0011166: Focal myoclonic seizure / 局灶性肌阵挛发作
HP:0011167: Focal tonic seizure / 局灶性强直发作
HP:0011168: Focal seizure with eyelid myoclonia / 局灶性癫痫伴眼睑肌阵挛
HP:0011169: Generalized clonic seizure / 全面性阵挛性发作
HP:0011170: Generalized myoclonic-atonic seizure / 全面性肌阵挛-失张力发作
HP:0011171: Simple febrile seizure / 单纯型热性惊厥
HP:0011172: Complex febrile seizure / 复杂性高热惊厥
HP:0011173: Focal behavior arrest seizure / 局灶性行为中止性癫痫发作
HP:0011174: Focal hyperkinetic seizure / 局灶性过度运动发作
HP:0011175: Focal motor seizure with version / 局灶性运动癫痫伴旋转
HP:0011176: EEG with constitutional variants / 脑电图固有变异
HP:0011177: EEG with 4-5/second background activity / 4-5次 /秒的脑电图背景活动
HP:0011178: Alpha-EEG / α脑电波
HP:0011179: Beta-EEG / β脑电波
HP:0011180: Partial beta-EEG / 部分β-脑电波
HP:0011181: Low voltage EEG / 低波幅脑电图
HP:0011182: Interictal epileptiform activity / 发作间期癫痫样放电
HP:0011183: EEG with hyperventilation-induced focal epileptiform discharges / 脑电图，过度换气诱发的局灶癫痫样放电
HP:0011184: EEG with hyperventilation-induced generalized epileptiform discharges / 脑电图，过度换气诱发的全面性癫痫样放电
HP:0011185: EEG with focal epileptiform discharges / 脑电图局灶性癫痫样放电
HP:0011186: Focal epileptiform discharges with limited propagation to contralateral hemisphere / 局灶性癫痫样放电，有限传播到对侧半球
HP:0011187: Focal EEG discharges with propagation to ipsilateral hemisphere / 脑电图局灶性放电，传播到同侧半球
HP:0011188: Focal EEG discharges with secondary generalization / 局灶性脑放电继发泛化
HP:0011189: Bilateral multifocal epileptiform discharges / 双侧多灶性痫样放电
HP:0011190: Uni- and bilateral multifocal epileptiform discharges / 单侧和双侧多灶性痫样放电
HP:0011191: Unilateral multifocal epileptiform discharges / 单侧多灶性癫痫样放电
HP:0011192: Polymorphic focal epileptiform discharges / 多态局灶性癫痫样放电
HP:0011193: EEG with focal spikes / 脑电图，局灶性棘波
HP:0011194: EEG with series of focal spikes / 脑电图，成簇局灶棘波
HP:0011195: EEG with focal sharp slow waves / 脑电图，局灶性尖慢波
HP:0011196: EEG with focal sharp waves / 脑电图，局灶性尖波
HP:0011197: EEG with focal spike waves / 脑电图，局灶性棘慢波
HP:0011198: EEG with generalized epileptiform discharges / 脑电图，伴广泛性癫痫样放电
HP:0011199: EEG with generalized sharp slow waves / 脑电图，伴广泛性尖慢波
HP:0011200: EEG with generalized polymorphic epileptiform discharges / 脑电图，伴广泛性多态癫痫样放电
HP:0011201: EEG with changes in voltage / 脑电图，电压变化
HP:0011202: EEG with diffuse acceleration / 脑电图弥漫性加快
HP:0011203: EEG with abnormally slow frequencies / 伴异常缓慢频率的脑电图
HP:0011204: EEG with continuous slow activity / 脑电图持续慢活动
HP:0011205: EEG with intermittent slow activity / 脑电图间歇性慢活动
HP:0011206: EEG with generalized slow activity grade 1 / 脑电图，广泛性慢活动1级
HP:0011207: EEG with generalized slow activity grade 2 / 脑电图，广泛性慢活动2级
HP:0011208: EEG with generalized slow activity grade 3 / 脑电图，广泛性慢活动3级
HP:0011209: EEG with generalized slow activity grade 4 / 脑电图，广泛性慢活动4级
HP:0011210: EEG with occipital slowing / 脑电图，枕部慢波
HP:0011211: EEG with photoparoxysmal response grade I / 脑电图，光阵发性反应I级
HP:0011212: EEG with photoparoxysmal response grade II / 脑电图，光阵发性反应 II级
HP:0011213: EEG with photoparoxysmal response grade III / 脑电图，光阵发性反应III级
HP:0011214: EEG with photoparoxysmal response grade IV / 脑电图，光阵发性反应Ⅳ级
HP:0011215: Hemihypsarrhythmia / 偏侧高度节律失调
HP:0011217: Abnormal shape of the occiput / 枕部畸形
HP:0011218: Abnormal shape of the frontal region / 前额部形状异常
HP:0011219: Short face / 短脸
HP:0011220: Prominent forehead / 前额中央突出
HP:0011221: Vertical forehead creases / 额头皱纹垂直
HP:0011222: Depressed glabella / 印堂凹陷
HP:0011223: Metopic depression / 额头下陷
HP:0011224: Ablepharon / 无睑畸形
HP:0011225: Epiblepharon / 睑赘皮
HP:0011226: Aplasia/Hypoplasia of the eyelid / 眼睑发育不全／未发育
HP:0011227: Elevated circulating C-reactive protein concentration / C-反应蛋白水平升高
HP:0011228: Horizontal eyebrow / 横眉
HP:0011229: Broad eyebrow / 宽眉
HP:0011230: Laterally extended eyebrow / 横向延伸眉
HP:0011231: Prominent eyelashes / 睫毛突出
HP:0011232: Infra-orbital fold / 眶下皱襞
HP:0011233: Antihelical shelf / 对耳轮畸形
HP:0011234: Absent antihelix / 对耳轮缺失
HP:0011235: Additional crus of antihelix / 对耳轮脚增多
HP:0011236: Angulated antihelix / 对耳轮棱型
HP:0011237: Broad inferior crus of antihelix / 对耳轮下脚宽
HP:0011238: Prominent inferior crus of antihelix / 对耳轮下脚突出
HP:0011239: Underdeveloped inferior crus of antihelix / 对耳轮下脚发育不良
HP:0011240: Prominent stem of antihelix / 对耳轮干突出
HP:0011241: Serpiginous stem of antihelix / 匐行性对耳轮干
HP:0011242: Underdeveloped stem of antihelix / 对耳轮干发育不良
HP:0011243: Abnormality of inferior crus of antihelix / 对耳轮下脚异常
HP:0011244: Abnormality of stem of antihelix / 对耳轮干异常
HP:0011245: Abnormality of superior crus of antihelix / 对耳轮上脚异常
HP:0011246: Underdeveloped superior crus of antihelix / 对耳轮上脚发育不良
HP:0011247: Prominent superior crus of antihelix / 对耳轮上脚突出
HP:0011248: Everted antitragus / 对耳屏外翻
HP:0011249: Absent antitragus / 对耳屏缺失
HP:0011250: Bifid antitragus / 对耳屏裂
HP:0011251: Underdeveloped antitragus / 对耳屏发育不良
HP:0011252: Cryptotia / 隐耳
HP:0011253: Type I cryptotia / Ⅰ型隐耳
HP:0011254: Type II cryptotia / Ⅱ型隐耳
HP:0011255: Absent crus of helix / 耳轮脚缺失
HP:0011256: Crus of helix connected to antihelix / 耳轮脚与对耳轮粘连
HP:0011257: Serpiginous crus of helix / 匐行性耳轮脚
HP:0011258: Tragal bridge of crus of helix / 耳前切迹
HP:0011259: Expanded terminal portion of crus of helix / 耳轮脚末端膨大
HP:0011260: Darwin notch of helix / 耳轮达尔文缺口
HP:0011261: Darwin tubercle of helix / 耳轮达尔文结节
HP:0011262: Crimped helix / 耳轮卷曲
HP:0011263: Forward facing earlobe / 前向耳垂
HP:0011264: Discontinuous ascending root of helix / 耳轮根部上升段不连续
HP:0011265: Cleft earlobe / 耳垂裂
HP:0011266: Microtia, first degree / 小耳畸形，1级
HP:0011267: Microtia, third degree / 小耳畸形，3级
HP:0011268: Absent tragus / 耳屏缺失
HP:0011269: Bifid tragus / 耳屏裂
HP:0011270: Duplicated tragus / 双耳屏
HP:0011271: Prominent tragus / 耳屏突出
HP:0011272: Underdeveloped tragus / 耳屏发育不良
HP:0011273: Anisocytosis / 红细胞大小不均
HP:0011274: Recurrent mycobacterial infections / 反复分枝杆菌感染
HP:0011275: Recurrent mycobacterium avium complex infections / 反复鸟分枝杆菌复合菌感染
HP:0011276: Vascular skin abnormality / 皮肤血管异常
HP:0011277: Abnormality of the urinary system physiology / 泌尿系统生理异常
HP:0011278: Intrapulmonary sequestration / 肺内型肺隔离症
HP:0011279: Abnormality of urine bicarbonate level / 尿碳酸氢盐水平异常
HP:0011280: Abnormality of urine calcium concentration / 尿钙浓度异常
HP:0011281: Abnormality of urine catecholamine level / 尿儿茶酚胺水平异常
HP:0011282: Abnormal hindbrain morphology / 后脑形态异常
HP:0011283: Abnormal metencephalon morphology / 后脑形态异常
HP:0011284: Short-segment aganglionic megacolon / 短段无神经节巨结肠
HP:0011285: Long-segment aganglionic megacolon / 长节段无神经节巨结肠
HP:0011286: Total colonic aganglionosis / 全结肠无神经节细胞
HP:0011287: EEG with occipital sharp slow waves / 脑电图，枕部尖慢波
HP:0011288: EEG with parietal sharp slow waves / 脑电图，伴顶部尖慢波
HP:0011289: EEG with temporal sharp slow waves / 脑电图，颞区尖慢波
HP:0011290: EEG with frontal sharp slow waves / 脑电图，额部尖慢波
HP:0011291: EEG with central sharp slow waves / 脑电图，伴中央区尖慢波
HP:0011292: EEG with occipital sharp waves / 脑电图，枕部尖波
HP:0011293: EEG with central sharp waves / 脑电图，伴中央区尖波
HP:0011294: EEG with frontal sharp waves / 脑电图，伴额叶尖波
HP:0011295: EEG with parietal sharp waves / 脑电图，伴顶部尖波
HP:0011296: EEG with temporal sharp waves / 脑电图，颞区尖波
HP:0011297: Abnormal digit morphology / 手指/脚趾形态异常
HP:0011298: Prominent digit pad / 指节垫
HP:0011299: Partial absence of finger / 手指部分缺失
HP:0011300: Broad fingertip / 指尖变宽
HP:0011301: Absent foot / 缺足
HP:0011302: Long palm / 长掌
HP:0011303: Convex contour of sole / 足底外侧凸起
HP:0011304: Broad thumb / 拇指变宽
HP:0011305: Partial absence of toe / 脚趾部分缺失
HP:0011307: Splayed toes / 分叉趾
HP:0011308: Slender toe / 修长趾
HP:0011309: Tapered toe / 锥形趾
HP:0011310: Bridged palmar crease / 桥型掌纹
HP:0011311: Sydney crease / 悉尼折痕
HP:0011312: Fused nails / 融合甲
HP:0011313: Narrow nail / 窄甲
HP:0011314: Abnormal long bone morphology / 长骨形态异常
HP:0011315: Unicoronal synostosis / 单侧冠状缝闭合
HP:0011316: Left unicoronal synostosis / 左侧冠状缝闭合
HP:0011317: Right unicoronal synostosis / 右侧冠状缝闭合
HP:0011318: Bicoronal synostosis / 双侧冠状缝闭合
HP:0011319: Bilambdoid synostosis / 双侧人字缝闭合
HP:0011320: Unilambdoid synostosis / 单侧人字缝闭合
HP:0011321: Left unilambdoid synostosis / 左侧人字缝早闭
HP:0011322: Right unilambdoid synostosis / 右侧人字缝早闭
HP:0011323: Cleft of chin / 下颚裂
HP:0011324: Multiple suture craniosynostosis / 多个颅缝早闭
HP:0011325: Pansynostosis / 泛颅缝早闭
HP:0011326: Anterior plagiocephaly / 前斜头畸形
HP:0011327: Posterior plagiocephaly / 后斜头畸形
HP:0011328: Abnormality of fontanelles / 囟门异常
HP:0011329: Abnormality of cranial sutures / 颅缝异常
HP:0011330: Metopic synostosis / 额缝早闭
HP:0011331: Hemifacial atrophy / 半侧面部萎缩
HP:0011332: Hemifacial hypoplasia / 面肌发育不全
HP:0011333: Asymmetric crying face / 不对称哭容
HP:0011334: Facial shape deformation / 脸型异常
HP:0011335: Frontal hirsutism / 前额多毛
HP:0011336: Bitemporal forceps marks / 双颞钳痕
HP:0011337: Abnormality of mouth size / 嘴巴大小异常
HP:0011338: Abnormality of mouth shape / 嘴形异常
HP:0011339: Abnormality of upper lip vermillion / 上唇红异常
HP:0011340: Incomplete cleft of the upper lip / 上唇不完全唇裂
HP:0011341: Long upper lip / 上唇肥厚
HP:0011342: Mild global developmental delay / 轻度全面发育延迟
HP:0011343: Moderate global developmental delay / 中度全面发育延迟
HP:0011344: Severe global developmental delay / 严重的全面性发育迟缓
HP:0011345: Moderate expressive language delay / 语言表达中度发育延迟
HP:0011346: Mild expressive language delay / 语言表达轻度发育延迟
HP:0011347: Abnormality of ocular abduction / 眼球外展异常
HP:0011348: Abnormal sixth cranial nerve morphology / 第VI颅神经形态异常
HP:0011350: Mild receptive language delay / 语言理解轻度发育延迟
HP:0011351: Moderate receptive language delay / 语言理解中度发育延迟
HP:0011352: Severe receptive language delay / 严重的理解性语言发育延迟
HP:0011353: Arterial intimal fibrosis / 动脉内膜纤维化
HP:0011354: Generalized abnormality of skin / 泛发性皮肤异常
HP:0011355: Localized skin lesion / 局限性皮损
HP:0011356: Regional abnormality of skin / 皮肤局部异常
HP:0011358: Generalized hypopigmentation of hair / 泛发性毛发色素减退
HP:0011359: Dry hair / 干性毛发
HP:0011360: Acquired abnormal hair pattern / 获得性毛发分布异常
HP:0011361: Congenital abnormal hair pattern / 先天性毛发分布异常
HP:0011362: Abnormal hair quantity / 毛发数量异常
HP:0011363: Abnormality of hair growth rate / 毛发生长速度异常
HP:0011364: White hair / 白发
HP:0011365: Patchy hypopigmentation of hair / 斑片状毛发色素减退
HP:0011367: Yellow nails / 黄指甲
HP:0011368: Epidermal thickening / 表皮增厚
HP:0011369: Mongolian blue spot / 蒙古斑
HP:0011370: Recurrent cutaneous fungal infections / 复发性皮肤真菌感染
HP:0011371: Recurrent viral skin infections / 复发性皮肤病毒感染
HP:0011372: Aplasia of the inner ear / 内耳不发育
HP:0011373: Incomplete partition of the cochlea / 耳蜗不完全分隔
HP:0011374: Incomplete partition of the cochlea type I / I型耳蜗分隔不全
HP:0011375: Cochlear aplasia / 耳蜗不发育
HP:0011376: Morphological abnormality of the vestibule of the inner ear / 内耳前庭的形态异常
HP:0011377: Aplasia of the vestibule / 前庭发育缺陷
HP:0011378: Hypoplasia of the vestibule of the inner ear / 内耳前庭发育不良
HP:0011379: Dilated vestibule of the inner ear / 内耳前庭扩大
HP:0011380: Morphological abnormality of the semicircular canal / 半规管形态异常
HP:0011381: Aplasia of the semicircular canal / 半规管不发育
HP:0011382: Hypoplasia of the semicircular canal / 半规管发育不全
HP:0011383: Enlarged semicircular canal / 半规管扩大
HP:0011384: Abnormality of the internal auditory canal / 内听道异常
HP:0011385: Absent internal auditory canal / 无内听道
HP:0011386: Narrow internal auditory canal / 内听道狭窄
HP:0011387: Enlarged vestibular aqueduct / 前庭导水管扩大
HP:0011388: Enlarged cochlear aqueduct / 耳蜗导水管扩大
HP:0011389: Functional abnormality of the inner ear / 内耳机能异常
HP:0011390: Morphological abnormality of the inner ear / 内耳形态异常
HP:0011391: Morphological abnormality of the nerves of the inner ear / 内耳神经形态异常
HP:0011392: Abnormality of the vestibular nerve / 前庭神经异常
HP:0011393: Aplasia of the vestibular nerve. / 前庭神经发育缺陷
HP:0011394: Hypoplasia of the vestibular nerve / 前庭神经发育不良
HP:0011395: Aplasia/Hypoplasia of the cochlea / 耳蜗发育缺陷/不全
HP:0011396: Abnormality of the cochlear nerve / 耳蜗神经异常
HP:0011397: Abnormality of the dorsal column of the spinal cord / 脊髓后索异常
HP:0011399: Tibialis anterior muscle atrophy / 胫骨前肌萎缩
HP:0011400: Abnormal CNS myelination / 中枢神经系统髓鞘异常
HP:0011401: Delayed peripheral myelination / 外周神经髓鞘化延迟
HP:0011402: Demyelinating sensory neuropathy / 脱髓鞘性感觉神经病
HP:0011403: Abnormal umbilical cord blood vessel morphology / 脐带血管形态异常
HP:0011404: Lethal short-trunk short stature / 致死性短躯干矮小
HP:0011405: Childhood onset short-limb short stature / 儿童期发病的短肢型矮小
HP:0011406: Infancy onset short-trunk short stature / 婴儿发病的短躯干矮小症
HP:0011407: Proportionate tall stature / 成比例高身材
HP:0011408: Moderate intrauterine growth retardation / 中度胎儿宫内发育迟缓
HP:0011409: Abnormal placental membrane morphology / 胎盘胎膜异常
HP:0011410: Caesarian section / 剖腹产
HP:0011411: Forceps delivery / 产钳助产
HP:0011412: Ventouse delivery / 胎吸分娩
HP:0011413: Shoulder dystocia / 肩难产
HP:0011414: Hydropic placenta / 胎盘水肿
HP:0011415: Calcified placenta / 胎盘钙化
HP:0011416: Placental infarction / 胎盘梗死
HP:0011417: Long umbilical cord / 长脐带
HP:0011418: Abnormal insertion of umbilical cord / 脐带插入点异常
HP:0011419: Placental abruption / 胎盘早剥
HP:0011420: Age of death / 死亡年龄
HP:0011421: Death in adolescence / 青春期死亡
HP:0011422: Abnormal blood chloride concentration / 氯稳态平衡异常
HP:0011423: Hyperchloremia / 高氯血症
HP:0011424: Increased serum zinc / 血清锌含量增高
HP:0011425: Fetal ultrasound soft marker / 胎儿超声软指标
HP:0011426: Fetal choroid plexus cysts / 胎儿脉络丛囊肿
HP:0011427: Enlarged fetal cisterna magna / 胎儿小脑延髓池扩大
HP:0011428: Short fetal femur length / 胎儿股骨短小
HP:0011429: Short fetal humerus length / 胎儿肱骨短小
HP:0011430: Hypoplasia of fetal nasal bone / 胎儿鼻骨发育不良
HP:0011431: Fetal fifth finger clinodactyly / 胎儿第五指屈指畸形
HP:0011432: High maternal circulating alpha-fetoprotein concentration / 母体循环甲胎蛋白水平高
HP:0011433: High maternal circulating chorionic gonadotropin concentration / 母体循环绒毛膜促性腺激素水平高
HP:0011434: Low maternal circulating chorionic gonadotropin concentration / 母体循环绒毛膜促性腺激素水平低
HP:0011435: Low maternal circulating PAPP-A concentration / 母体循环PAPP-A水平低
HP:0011436: Abnormal maternal serum screening / 母血清筛查异常
HP:0011437: Maternal autoimmune disease / 母体自身免疫性疾病
HP:0011438: Maternal teratogenic exposure / 孕期致畸暴露
HP:0011439: Anesthetic-induced rhabdomylosis / 麻醉诱导的横纹肌溶解症
HP:0011440: Alcohol-induced rhabdomyolysis / 酒精性横纹肌溶解症
HP:0011441: Abnormal medulla oblongata morphology / 延髓形态异常
HP:0011442: Abnormal central motor function / 中枢性运动功能异常
HP:0011443: Abnormality of coordination / 协调异常
HP:0011444: Decorticate rigidity / 去皮层强直
HP:0011445: Athetoid cerebral palsy / 手足徐动型脑瘫
HP:0011446: Abnormality of higher mental function / 高级精神功能异常
HP:0011447: Hyposegmentation of neutrophil nuclei / 中性粒细胞核低分叶
HP:0011448: Ankle clonus / 踝阵挛
HP:0011449: Knee clonus / 膝阵挛
HP:0011450: Unusual CNS infection / 不寻常的中枢神经系统感染
HP:0011451: Primary microcephaly / 先天性小头畸形
HP:0011452: Functional abnormality of the middle ear / 中耳机能异常
HP:0011453: Abnormality of the incus / 砧骨异常
HP:0011454: Abnormality of the malleus / 锤骨异常
HP:0011455: Absent malleus / 锤骨缺失
HP:0011456: Absent stapes / 镫骨缺失
HP:0011457: Loss of eyelashes / 睫毛消退
HP:0011458: Abdominal symptom / 腹部症状
HP:0011459: Esophageal carcinoma / 食管癌
HP:0011460: Embryonal onset / 胚胎期发病
HP:0011461: Fetal onset / 胎儿期发病
HP:0011462: Young adult onset / 青年发病
HP:0011463: Childhood onset / 儿童期发病
HP:0011464: Aganglionosis of the small intestine / 小肠神经节细胞缺乏症
HP:0011465: Duodenal aganglionosis / 十二指肠神经节细胞缺乏症
HP:0011466: Aplasia/Hypoplasia of the gallbladder / 胆囊不发育/发育不全
HP:0011467: Absent gallbladder / 胆囊缺失
HP:0011468: Facial tics / 面部抽动
HP:0011469: Nasal regurgitation / 鼻腔返流
HP:0011470: Nasogastric tube feeding in infancy / 婴儿期鼻胃管饲
HP:0011471: Gastrostomy tube feeding in infancy / 婴儿期胃造口管饲
HP:0011472: Abnormality of small intestinal villus morphology / 小肠绒毛形态异常
HP:0011473: Villous atrophy / 绒毛萎缩
HP:0011474: Childhood onset sensorineural hearing impairment / 儿童期发病的感音神经性听觉障碍
HP:0011475: Persistent stapedial artery / 残留性镫骨动脉
HP:0011476: Profound sensorineural hearing impairment / 极重度感音神经性听力损失
HP:0011477: Upbeat nystagmus / 上跳性眼球震颤
HP:0011478: True anophthalmia / 真无眼畸形
HP:0011479: Abnormal lacrimal punctum morphology / 泪点形态异常
HP:0011480: Unilateral microphthalmos / 单侧小眼畸形
HP:0011481: Abnormal lacrimal duct morphology / 泪道形态异常
HP:0011482: Abnormal lacrimal gland morphology / 泪腺形态异常
HP:0011483: Anterior synechiae of the anterior chamber / 前房前粘连
HP:0011484: Posterior synechiae of the anterior chamber / 虹膜后粘连
HP:0011485: Corneolenticular adhesion / 角膜晶状体粘连
HP:0011486: Abnormality of corneal thickness / 角膜厚度异常
HP:0011487: Increased corneal thickness / 角膜厚度增加
HP:0011488: Abnormal corneal endothelium morphology / 角膜内皮形态异常
HP:0011489: Abnormal migration of corneal endothelium / 角膜内皮细胞异常迁移
HP:0011490: Abnormal Descemet membrane morphology / 角膜后弹力层形态异常
HP:0011491: Reduced number of corneal endothelial cells / 角膜内皮细胞的数目减少
HP:0011492: Abnormal corneal stroma morphology / 角膜基质形态异常
HP:0011493: Central opacification of the cornea / 角膜的中央混浊
HP:0011494: Generalized opacification of the cornea / 角膜广泛性混浊
HP:0011495: Abnormal corneal epithelium morphology / 角膜上皮形态异常
HP:0011496: Corneal neovascularization / 角膜新生血管
HP:0011497: Iris neovascularization / 虹膜新生血管
HP:0011499: Mydriasis / 瞳孔散大
HP:0011500: Polycoria / 多瞳症
HP:0011501: Anterior lenticonus / 前圆锥形晶状体
HP:0011502: Posterior lenticonus / 后圆锥形晶状体
HP:0011503: Aplasia of the fovea / 黄斑中心凹的发育缺陷
HP:0011504: Bull's eye maculopathy / 靶心样黄斑病变
HP:0011505: Cystoid macular edema / 囊样黄斑水肿
HP:0011506: Choroidal neovascularization / 脉络膜新生血管
HP:0011507: Macular flecks / 黄斑斑点
HP:0011508: Macular hole / 黄斑裂孔
HP:0011509: Macular hyperpigmentation / 黄斑色素沉着
HP:0011510: Drusen / 玻璃膜疣
HP:0011511: Macular schisis / 黄斑劈裂
HP:0011512: Hyperpigmentation of the fundus / 眼底的色素沉着
HP:0011513: Retinal cavernous angioma / 视网膜海绵状血管瘤
HP:0011514: Abnormality of binocular vision / 双眼单视功能异常
HP:0011515: Abnormal stereopsis / 立体视觉异常
HP:0011516: Achromatopsia / 色盲
HP:0011517: Cone monochromacy / 视锥细胞单色视
HP:0011518: Dichromacy / 二色性
HP:0011519: Anomalous trichromacy / 三色视异常
HP:0011520: Deuteranomaly / 绿色弱
HP:0011521: Deuteranopia / 绿色盲
HP:0011522: Protanopia / 红色盲
HP:0011523: Iris cyst / 虹膜囊肿
HP:0011524: Iris melanoma / 虹膜黑色素瘤
HP:0011525: Iris nevus / 虹膜痣
HP:0011526: Abnormality of lens shape / 晶状体形状异常
HP:0011527: Lentiglobus / 球形晶状体
HP:0011528: Solitary congenital hypertrophy of retinal pigment epithelium / 双眼多灶性先天性视网膜色素上皮肥厚
HP:0011529: Multiple bilateral congenital hypertrophy of retinal pigment epithelium / 多发性双侧先天性视网膜色素上皮肥大
HP:0011530: Retinal hole / 视网膜裂孔
HP:0011531: Vitritis / 玻璃体炎
HP:0011532: Subretinal exudate / 视网膜下渗出
HP:0011533: Snowflake vitreoretinal degeneration / 雪花型玻璃体视网膜变性
HP:0011534: Abnormal spatial orientation of the cardiac segments / 心脏节段空间排布异常
HP:0011535: Abnormal atrial arrangement / 心房排布异常
HP:0011536: Right atrial isomerism / 右心房异构
HP:0011537: Left atrial isomerism / 左心房异构
HP:0011538: Atrial situs inversus / 心房左右转位
HP:0011539: Atrial situs ambiguous / 心房不定位
HP:0011540: Congenitally corrected transposition of the great arteries / 先天矫正型大动脉转位
HP:0011541: Criss-cross atrioventricular valves / 十字形房室瓣
HP:0011542: Criss-cross atrioventricular valves with superior-inferior ventricles / 十字形房室瓣伴上下排列心室
HP:0011543: Superior-inferior ventricles without criss-cross atrioventricular valves / 无十字房室瓣型上下排列心室
HP:0011544: L-looping of the right ventricle / 右心室左袢
HP:0011545: Abnormal connection of the cardiac segments / 心脏节段连接异常
HP:0011546: Abnormal atrioventricular connection / 房室连接异常
HP:0011547: Absent left sided atrioventricular connection / 左侧房室接连缺失
HP:0011548: Absent right sided atrioventricular connection / 右侧房室连接缺失
HP:0011549: Univentricular heart with absent left sided atrioventricular connection / 左房室连接缺失致单心室心脏
HP:0011550: Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection / 双心室心脏伴右房室瓣骑跨及左房室连接缺失
HP:0011551: Right sided atrium to left ventricle and absent left sided atrioventricular connection / 右房左室连接伴左房室连接缺失。
HP:0011552: Ambiguous atrioventricular connection / 房室连接不明
HP:0011553: Discordant atrioventricular connection / 房室连接不协调
HP:0011554: Double inlet atrioventricular connection / 双入口型房室连接
HP:0011555: Double inlet left ventricle / 左室双入口
HP:0011556: Double inlet right ventricle / 右室双入口
HP:0011557: Double inlet to single ventricle of indeterminate morphology / 形态不明的单心室双入口
HP:0011558: Double inlet to single ventricle with common atrioventricular orifice / 单室双入口伴共同房室口
HP:0011559: Double inlet to single ventricle with two atrioventricular valves / 单室双入口伴双房室瓣
HP:0011560: Mitral atresia / 二尖瓣闭锁
HP:0011561: Overriding atrioventricular valve / 房室瓣骑跨
HP:0011562: Straddling atrioventricular valve / 跨界房室瓣
HP:0011563: Abnormal ventriculoarterial connection / 心室大动脉连接异常
HP:0011564: Mitral valve arcade / 二尖瓣弓形
HP:0011565: Common atrium / 共同心房
HP:0011566: Cor triatriatum dexter / 右侧三房心
HP:0011567: Sinus venosus atrial septal defect / 静脉窦型房间隔缺损
HP:0011568: Double orifice mitral valve / 双孔二尖瓣
HP:0011569: Cleft anterior mitral valve leaflet / 二尖瓣前叶裂
HP:0011570: Congenital mitral stenosis / 先天性二尖瓣狭窄
HP:0011571: Parachute mitral valve / 降落伞型二尖瓣
HP:0011572: Supramitral ring / 二尖瓣上环
HP:0011573: Hypoplastic tricuspid valve / 三尖瓣发育不全
HP:0011574: Imperforate atrioventricular valve / 房室瓣闭锁
HP:0011575: Imperforate tricuspid valve / 三尖瓣闭锁
HP:0011576: Intermediate atrioventricular canal defect / 中间型房室管缺损
HP:0011577: Partial atrioventricular canal defect / 部分房室管缺损
HP:0011578: Transitional atrioventricular canal defect / 过渡型房室管缺损
HP:0011579: Unbalanced atrioventricular canal defect / 不平衡型房室管缺损
HP:0011580: Short chordae tendineae of the mitral valve / 二尖瓣短腱索
HP:0011581: Double outlet left ventricle / 左室双出口
HP:0011582: Abdominal ectopia cordis / 腹部心脏异位
HP:0011583: Cervical ectopia cordis / 颈部异位心
HP:0011584: Thoracocervical ectopia cordis / 胸颈异位心
HP:0011585: Thoracic ectopia cordis / 胸廓异位心
HP:0011586: Thoracoabdominal ectopia cordis / 胸腹异位心
HP:0011587: Abnormal branching pattern of the aortic arch / 主动脉弓分支异常
HP:0011588: Cervical aortic arch / 颈位主动脉弓
HP:0011589: Common origin of the right brachiocephalic artery and left common carotid artery / 右头臂干及左颈总动脉共同起源
HP:0011590: Double aortic arch / 双主动脉弓
HP:0011591: Left aortic arch with cervical origin of the right subclavian artery / 左位主动脉弓伴颈总动脉源型右锁骨下动脉
HP:0011592: Left aortic arch with isolated subclavian artery / 左位主动脉弓伴孤立型锁骨下动脉
HP:0011593: Left aortic arch with retroesophageal diverticulum of Kommerell / 左位主动脉弓伴食管后Kommerell憩室
HP:0011594: Right aortic arch with retroesophageal diverticulum of Kommerell / 右主动脉弓伴食管后科默雷尔憩室
HP:0011595: Left aortic arch with retroesophageal right subclavian artery / 左位主动脉弓伴食管后右锁骨下动脉
HP:0011596: Left aortic arch with right descending aorta and right ductus arteriosus / 左位主动脉弓伴右位降主动脉及右位动脉导管未闭
HP:0011597: Right aortic arch with left descending aorta and left ductus arteriosus / 右位主动脉弓伴左位降主动脉及左动脉导管未闭
HP:0011598: Right aortic arch with retroesophageal left subclavian artery / 右位主动脉弓伴食管后左锁骨下动脉
HP:0011599: Mesocardia / 中位心
HP:0011600: Abnormal direction of ventricular apex / 心室尖部指向异常