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I. Children Rare Diseases Risk Report 兒童罕見疾病風險報告

Part of Screening Contents 篩選內容的一部分​

  • Dental Enamel Hypoplasia牙釉質發育不全

  • Systemic onset juvenile chronic arthritis全身性青少年慢性關節炎

  • Severe hypothyroidism嚴重的甲狀腺功能減退症

  • Juvenile rheumatoid arthritis幼年型類風濕性關節炎

  • Lymphocytosis淋巴細胞增多

  • Neonatal thrombocytopenia (disorder)新生兒血小板減少症(障礙)

  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33癲癇性腦病,早期嬰兒,33

  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IInII型糖尿病的先天性疾病

  • Congenital Generalized Lipodystrophy Type 2先天性廣泛性脂肪代謝障礙2型

  • Neonatal insulin-dependent diabetes mellitus新生兒胰島素依賴型糖尿病

  • Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency乳酸性酸中毒,先天性嬰兒,由於缺乏

  • Infantile Sandhoff Disease嬰兒桑德霍夫病

  • Juvenile Spinal Muscular Atrophy少年脊髓肌肉萎縮

  • Constitutional delay of growth and puberty憲法延遲增長和青春期

  • Early onset torsion dystonia早發性扭轉肌張力障礙

  • MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL肌無力症 ,先天性,2A,慢通道

  • Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency肌肉萎縮症,先天性,由於部分LAMA2缺乏

  • Childhood Medulloblastoma兒童成神經管細胞瘤

  • Childhood Astrocytoma兒童星形細胞瘤

  • Childhood Osteosarcoma兒童期骨肉瘤

  • Lymphoblastic leukemia in children兒童淋巴母細胞白血病

  • Childhood Ganglioglioma兒童神經膠質瘤

  • Childhood Hepatocellular Carcinoma兒童肝細胞癌

  • CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4心腦肌病,致命的嬰兒,由於細胞凋亡c氧化酶缺乏症4

  • Cardiac valvular dysplasia, X-linked心臟瓣膜發育不良,X連鎖

  • Vascular stenosis血管狹窄

  • Spondyloepiphyseal Dysplasia, Kimberley Type脊椎發育不良發育不良,金伯利型

  • SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3脊椎肋骨發育不全,體染色體隱性 3

  • Metachromatic Leukodystrophy, Infant異染性腦白質營養不良,嬰兒

  • NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO神經管缺陷,易感性

  • Adrenoleukodystrophy, Neonatal腎上腺腦白質營養不良,新生兒

  • Necrotizing enterocolitis in fetus OR newborn胎兒或新生兒壞死性小腸結腸炎

  • Aplasia/hypoplasia of the femur股骨發育不全/發育不全

  • Cystinosis, Infantile Nephropathic胱氨酸病,嬰兒腎病

  • Kyphoscoliosis deformity of spine脊柱後凸畸形脊柱畸形

  • Childhood Langerhans Cell Histiocytosis兒童朗格漢斯細胞組織細胞增生症    IMMUNODEFICIENCY 17免疫缺陷17

  • Hypothyroidism, Congenital, Nongoitrous, 4甲狀腺功能減退症,先天性,非遺傳性,4

  • Neonatal hemolytic anemia新生兒溶血性貧血

  • Neonatal encephalopathy新生兒腦病

  • Hypoplastic acetabulae發育不良的髖臼

  • Congenital Generalized Lipodystrophy Type 1先天性廣泛性脂肪營養不良1型

  • Congenital Disorder of Glycosylation, Type Io先天性糖基化障礙,Io型

  • Maturity-onset diabetes of the young, type 10成熟型糖尿病的年輕人,10型

  • Cataract, Juvenile, With Microcornea And Glucosuria    內障,少年,微血管和葡萄糖尿症

  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu糖尿病的先天性疾病,Iu型

  • Generalized glycogen storage disease of infants嬰兒的廣義糖原貯積病

  • Familial Partial Lipodystrophy, Type 2家族性部分性脂肪營養不良,2型

  • Glycogen Storage Disease Type II, Infantile糖原貯積病II型,嬰兒期

  • Dystonia, Primary肌張力障礙,小學

  • Muscular Dystrophy, Congenital, Megaconial Type肌肉萎縮症,先天性,Megaconial型

  • Acral pseudolymphomatous angiokeratoma of children (APACHE)兒童肢端假性血管性角膜瘤(APACHE)

  • Adrenocortical Carcinoma, Pediatric腎上腺皮質癌,小兒科

  • Juvenile polyposis syndrome青少年息肉綜合症

  • Congenital central hypoventilation先天性中樞通氣不足

  • Aortic Valve Insufficiency主動脈瓣膜功能不全

  • CARDIOMYOPATHY AND DEAFNESS心臟瓣膜缺陷,發育

  • ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)致心律失常性右心室發育不良,家族的,5(障礙)

  • Paroxysmal familial ventricular fibrillation陣發性家族性心室顫動

  • Childhood nephrotic syndrome兒童腎病綜合症

  • DEAFNESS, AUTOSOMAL RECESSIVE 18B聽力缺損,體染色體隱性 18B

  • Metachromatic leukodystrophy, juvenile type異色性腦白質營養不良,幼年型

  • Corpus callosum agenesis neuronopathy發育不全神經元病

  • Bulimia Nervosa神經性貪食症

  • INFANTILE LIVER FAILURE SYNDROME 1嬰兒肝衰竭綜合症1

  • LIVER FAILURE, INFANTILE, TRANSIENT肝功能衰竭,嬰兒,暫時性

  • Childhood Acute Lymphoblastic Leukemia兒童急性淋巴細胞白血病

  • Childhood Acute Myeloid Leukemia兒童急性髓性白血病

  • Poliosis白髮症

  • SCLEROSING CHOLANGITIS, NEONATAL硬化性膽管炎,新生兒

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