中文英文11β-羟化酶缺乏症11β-hydroxylase deficiency, 11β-OHD17α-羟化酶缺乏症17α-hydroxylase deficiency, 17α-OHD21-羟化酶缺乏症21-hydroxylase deficiency, 21-OHD21三体综合征trisomy 21 syndrome3β-羟类固醇脱氢酶缺乏症3β-hydroxy steroid dehydrogenase deficiency, 3β-HSD Angelman综合征Angelman syndromeB组链球菌肺炎group B streptococcal pneumoniaDNA测序DNA sequencingEB病毒Epstein-Barr virus, EBVPrader-Willi综合征Prader-Willi syndromeTurner综合征Turner syndrome, TSX-连锁无丙种球蛋白血症X-linked a gammaglobuli anaemia, XLAX连锁显性遗传X-linked dominant inheritanceX连锁隐形遗传X-linked recessive inheritanceY连锁遗传Y-linked inheritance巴宾斯基征Babinski sign白肺white lung白血病leukemia伴中央颞区棘波的儿童良性癫痫benign childhood epilepsy with centro temporal spikes,BECT 苯丙氨酸phenylalanine,Phe苯丙酮尿症phenyl keton uria,PKU变态反应性曲霉菌病allergic aspergillosis病毒性脑炎viral encephalitis病毒性心肌炎viral myocarditis病理性黄疸pathologic jaundice产毒性大肠埃希菌enterotoxigenic E. coli, ETEC肠内营养支持enteral nutrition, EN肠套叠intussusception常见变异型免疫缺陷病common variable immunodeficiency, CVID常频机械通气conventional mechanical ventilation, CMV常染色体显性遗传autosomal dominant inheritance常染色体隐性遗传autosomal recessive inheritance成人疾病胎儿起源学说developmental original health and diseases, DOHaD持续气道正压通气continuous positive airway pressure, CPAP持续胎儿循环persistent fetal circulation充血性心力衰竭congestive heart failure川崎病Kawasaki disease, KD传染性单核细胞增多症infectious mononucleosis, IM串联质谱技术tandem mass spectrometry, MS/MS核磁共振技术magnetic resonance imaging, MRI促黄体生成素luteinizing hormone, LH促卵泡生成素follicle stimulating hormone, FSH促性腺激素释放激素gonadotropin releasing hormone, Gn-RH大于胎龄large for gestational带状疱疹herpes zoster丹佛发育筛查法Denver Development Screen Test, DDST胆道蛔虫症biliary ascariasis胆红素脑病bilirubin encephalopathy蛋白质-热能营养不良protein-energy malnutrition低出生体重low birth weight, LBW地方性先天性甲低endemic congenital hypothyroidism地中海贫血thalassemia癫痫epilepsy癫痫综合征epileptic syndrome电子计算机断层扫描computed tomography, CT动脉导管未闭patent ductus arteriosus, PDA鹅口疮thrush, oral candidiasis法洛四联症tetralogy of Fallot, TOF房间隔缺损atrial septal defect, ASD非胰岛素依赖性糖尿病noninsulin-dependent diabetes mellitus, NIDDM 肺大疱pneumatocele肺动脉瓣狭窄pulmonary stenosis, PS肺活量vital capacity肺脓肿lung abscess肺曲霉病pulmonary aspergillosis肺炎pneumonia肺炎链球菌肺炎Streptococcus pneumoniae pneumonia肺炎支原体肺炎Mycoplasma pneumoniae pneumonia肺隐球菌病pulmonary cryptococcosis风湿热rheumatic fever, RF腹泻病diarrhea肝豆状核变性hepatolenticular degeneration感染性肺炎infectious pneumonia感染性心内膜炎infective endocarditis ,IE高级生命支持advanced life support, ALS高频通气high-frequency ventilation, HFV革兰氏阴性杆菌肺炎Gram-negative bacillary pneumonia, GNBP膈疝diaphragmatic hernia弓形虫病toxoplasmosis宫内生长迟缓intrauterine growth restriction/retardation, IUGR 宫外生长迟缓extrauterine growth restriction/retardation,EUGR 钩虫病ancylostomiasis孤独症谱系障碍autistic spectrum disorders, ASD孤立性蛋白尿isolated proteinuria孤立性血尿isolated hematuria骨龄bone age光照疗法phototherapy过敏性紫癜anaphylactoid purpura过期产儿post-term infant海洋性贫血thalassemia核黄疸kernicterus呼吸道合胞病毒肺炎respiratory syncytial virus pneumonia呼吸窘迫综合征respiratory distress syndrome, RDS呼吸衰竭respiratory failure化脓性脑膜炎purulent meningitis换血疗法exchange transfusion活动消耗physical activity获得性免疫缺陷综合征acquired immunodeficiency syndrome, AIDS肌电图electro myo graphy, EMG基本生命支持basic life support, BLS基因组印记genomic imprinting吉兰-巴雷综合征Guillain-Barre syndrome, GBS急性非淋巴细胞白血病acute non-lymphocytic leukemia, ANLL急性感染性喉炎acute infectious laryngitis急性呼吸窘迫综合征acute respiratory distress syndrome, ARDS急性淋巴细胞白血病acute lymphoblastic leukemia, ALL急性上呼吸道感染acute upper respiratory infection, AURI急性肾衰竭acute renal failure, ARF急性肾小球肾炎acute glomerulonephritis, AGN急性粟粒性肺结核acute miliary tuberculosis of the lungs急性细菌性脑膜炎bacterial meningitis急性支气管炎acute bronchitis急性中毒acute poisoning脊髓灰质炎poliomyelitis继发性呼吸暂停secondary apnea继发性免疫缺陷病secondary immunodeficiency disease, SID继发性肾小球疾病secondary glomerular disease寄生虫病parasitic disease甲基丙二酸血症methylmalonic acidemia, MMA甲状腺激素thyroid hormone假肥大型肌营养不良pseudohypertrophic muscular dystrophy假丝酵母菌病candidiasis焦虑症anxiety disorder结核病tuberculosis, TB结核性脑膜炎tuberculous meningitis金黄色葡萄球菌肺炎Staphylococcal aureus pneumonia进行性肌营养不良progressive muscular dystrophy近端肾小管酸中毒proximal renal tubular acidosis, pRTA惊厥convulsion精氨酸加压素arginine vasopressin, AVP巨大儿macrosomia巨细胞病毒感染cytomegalovirus infection聚合酶链反应polymerase chain reaction, PCR抗利尿激素antidiuretic hormone, ADH抗生素相关性腹泻antibiotic-associated diarrhea, AAD可耐受最高摄入量tolerable upper intake level, UL克罗恩病Crohn's disease, CD克氏征Kernig sign空肠弯曲菌campylobacter jejuni口炎stomatitis溃疡性结肠炎ulcerative colitis, UC狼疮性肾炎lupus nephritis朗格汉斯细胞组织细胞增生症Langerhans cell histiocytosis, LCH类脂性先天性肾上腺皮质增生症congenital lipoid adrenal hyperplasia, CLAH流感病毒肺炎influenza pneumonia流行性腮腺炎mumps, epidemic parotitis麻疹measles慢性肺疾病chronic lung disease, CLD慢性肉芽肿病chronic granulomatous ,CGD毛玻璃样ground glass毛细支气管炎bronchiolitis弥散性血管内凝血disseminated intravascular coagulation, DIC觅食反射rooting reflex泌尿道感染urinary tract infection, UTI免疫immunity免疫功能低下immuno-compromise免疫缺陷病immunodeficiency disease, ID免疫性血小板减少症immune thrombocytopenic, ITP母乳性黄疸breast milk jaundice蛲虫病enterobiasis脑电图electro encepha lography, EEC脑干听觉诱发电位brainstem auditory evoked potential, BAEP脑实质出血intraparenchymal hemorrhage, IPH脑室扩大ventriculomegaly, VM脑室周围白质软化peri ventriculo megaly leukomalacia, PVL脑室脑室内出血intra ventricular hemorrhage, IVH脑室周围-脑室内出血periventricular-intraventricular hemorrhage, PVH-IVH 脑性瘫痪cerebral palsy年龄及发育进程问卷age&stages questionnaire, ASQ黏多糖贮积病mucopolysaccharidosis, MPS尿崩症diabetes insipideus, DI尿道炎urethritis脓毒性休克septic shock脓气胸pyopneumothorax脓胸empyema排泄消耗excreta疱疹性口腔炎herpetic stomatitis疱疹性咽峡炎herpangina胚胎期embryonic period皮肤黏膜隐球菌病mucocutaneous cryptococcosis平均需要量estimated average requirement, EAR膀胱炎cystitis期前收缩premature beat气相色谱-质谱技术gas chromatography mass spectrometry, GC/MS 潜伏结核感染latent tuberculosis infection青年成熟期发病型糖尿病maturity-onset diabetes of youth, MODY曲霉病aspergillosis全身性曲霉病disseminated aspergillosis缺铁性贫血iron deficiency anemia, IDA染色体病chromosomal disorders染色体核型分析karyotype热性惊厥febrile seizure, FS热性惊厥附加症febrile seizures plus, FS+人类巨细胞病毒human cytomegalovirus, HCMV人类免疫缺陷病毒human immunodeficiency virus, HIV溶血尿毒综合征hemolytic uremic syndrome,HUS溶血性贫血hemolytic anemia散发性先天性甲低sporadic congenital hypothyroidism沙门菌salmonella膳食营养素参考摄入量dietary reference intakes, DRIs深部真菌病deep mycosis肾病综合征nephrotic syndrome, NS肾小管酸中毒renal tubular acidosis, RTA肾小球滤过率glomerular filtration rate, GFR肾盂肾炎pyelonephritis生长激素growth hormone, GH生长激素缺乏症growth hormone deficiency, GHD生长激素释放激素抑制激素somatostatin, SRIH 或 GHIH生理性黄疸physiological jaundice湿肺wet lung湿疹、血小板减少伴免疫缺陷Wiskott-Aldrich syndrome, WAS十二指肠溃疡duodenal ulcer, DU食物特殊动力作用thermic effect of feeding, TEF适宜摄入量adequate intake, AI适于胎龄appropriate for gestational age, AGA室间隔缺损ventricular septal defect, VSD室性心动过速ventricular tachycardia噬血细胞性淋巴组织细胞增生症hemophagocytic lymphohistiocytosis, HLH噬血细胞综合征hemophagocytic syndrome, HPS手足口病hand, foot and mouth disease, HFMD水痘chickenpox, varicella水痘-带状疱疹病毒varicella-zoster virus, VZV睡眠障碍sleep disorder, SD胎儿期fetal period胎粪吸入综合征meconium aspiration syndrome, MAS胎龄gestational age, GA唐氏综合征Down syndrome, DS糖尿病diabetes mellitus, DM糖尿病母亲婴儿infant of diabetic mother, IDM糖原贮积症glycogen storage disease, GSD特发性矮身材idiopathic short stature, ISS特发性血小板减少性紫癜idiopathic thrombocytopenie purpura, ITP体外膜肺氧合extracorporeal membrane oxygenation, EC-MO图片词汇测试Peabody Picture Vocabulary Test, PPVT推荐摄入量recommended nutrient intake, RNI完全性大动脉换位transposition of the great arteries, TGA晚期代谢性酸中毒late metabolic acidosis晚期新生儿late newborn微阵列比较基因组杂交技术array-based comparative genomic hybridization围生期perinatal period未定型结肠炎indeterminate colitis, IC胃溃疡gastric ulcer, GU胃食管反流gastroesophageal reflux, GER胃炎gastritis握持反射grasp reflex无创性产前筛查non-invasive prenatal test, NIPT无症状性菌尿asymptomatic bacteriuria物质滥用substance abuse吸吮反射sucking reflex先天性非球形细胞性溶血性贫血congenital non spherocytic hemolytic anemia, CNSHA 先天性肥厚性幽门狭窄congenital hypertrophic pyloricstenosis先天性高胰岛素血症congenital hyperinsulinism, CHI先天性甲状腺功能减退congenital hypothyroidism先天性巨结肠congenital megacolon先天性梅毒congenital syphilis先天性肾上腺皮质增生症congenital adrenal hyperplasia, CAH先天性心脏病congenital heart disease, CHD线粒体疾病mitochondrial diseases腺病毒肺炎adenovirus pneumonia消化性溃疡peptic ulcer小脑出血cerebellar hemorrhage, CH小于胎龄small for gestational age, SGA心肺复苏cardiopulmonary resuscitation, CPR心理社会发育障碍disturbed psycho social development心律失常cardiac ar rhythmia心内膜弹力纤维增生症endocardial fibro elas tosis新生儿neonate, newborn新生儿败血症neonatal septicemia新生儿持续肺动脉高压persistent pulmonary hypertension of newborn, PPHN 新生儿出血症hemorrhagic disease of the newborn, HDN新生儿低血糖neonatal hypoglycemia新生儿高胆红素血症neonatal hyperbilirubinemia新生儿高血糖neonatal hyperglycemia新生儿坏死性小肠结肠炎neonatal necrotizing enterocolitis, NEC新生儿黄疸neonatal jaundice新生儿颅内出血intracranial hemorrhage of the newborn新生儿破伤风neonatal tetanus新生儿期neonatal period新生儿缺氧缺血性脑病hypoxic-ischemic encephalopathy, HIE新生儿溶血病hemolytic disease of newborn, HDN新生儿糖尿病neonatal diabetes mellitus, NDM新生儿细菌性败血症neonatal bacterial septicemia新生儿衣原体感染chlamydial infection新生儿暂时性呼吸困难transitory tachy pnea of newborn, TTN新生儿窒息asphyxia of newborn新生儿重症监护室neonatal intensive care unit, NICU性早熟sexual precocity学龄期school-age period学龄前期preschool period血尿hematuria血友病hemophilia咽结膜热pharyngo-conjunctival fever严重联合免疫缺陷病severe combined immunodeficiency, SCID炎症性肠病inflammatory bowel disease, IBD耶尔森菌Yersinia衣原体肺炎chlamydial pneumonia胰岛素样生长因子insulin-like growth factor, IGF胰岛素依赖性糖尿病insulin dependent diabetes mellitus, IDDM遗传代谢病inborn errors of metabolism, IEM遗传性疾病genetic disease遗传性球形红细胞增多症hereditary spherocytosis, HS遗传性肾小球疾病hereditary glomerular disease遗传性生长激素缺乏HGHD乙肝病毒相关性肾炎HBV-associated glomerulonephritis抑郁症depression隐球菌病cryptococcosis隐球菌性脑膜炎cryptococcal meningitis婴儿胆汁淤积症infantile cholestasis婴儿痉挛infantile spasm婴儿期infant period荧光原位杂交fluorescence in situ hybridization, FISH营养nutrition营养不良malnutrition营养低下undernutrition营养素nutrients营养性巨幼细胞性贫血nutritional megaloblastic anemia营养性维生素D缺乏性佝偻病rickets of vitamin D deficiency硬膜下出血subdural hemorrhage, SDH拥抱反射Moro reflex幽门螺杆菌Helicobacter pylori, Hp幼儿期toddler period幼年特发性关节炎juvenile idiopathic arthritis, JIA原发型肺结核primary pulmonary tuberculosis原发性呼吸暂停primary apnea原发性免疫缺陷病primary immunodeficiency, PID原发性肾小球疾病primary glomerular diseases原发性蛛网膜下腔出血primary subarachnoid hemorrhage, SAH远端肾小管酸中毒distal renal tubular acidosis, dRTA早产儿preterm infant早产儿视网膜病retinopathy of prematurity, ROP早期新生儿early newborn阵发性室上性心动过速paroxysmal supraventricular tachycardia正常出生体重normal birth weight, NBW正常足月儿normal term infant症状性泌尿道感染symptomatic urinary tract infection支气管充气征air bronchogram支气管肺发育不良bronchopulmonary dysplasia, BPD支气管肺炎bronchopneumonia支气管扩张bronchiectasis支气管哮喘bronchial asthma致病性大肠埃希菌enteropathogenic E.coli重症肌无力myasthenia gravis, MG注意缺陷多动障碍attention-deficit hyperactivity disorder, ADHD 紫癜性肾炎purpura nephritis足月儿full term infant。
