24
(78.4%)

Leptospirosis
----
レプトスピラ症

溶血性貧血 脾腫 蛋白尿 黄疸

Leptospirosis is an anthropozoonosis caused by spiral-shaped bacteria belonging to the genus Leptospira. Leptospirosis is a widespread zoonosis with a worldwide distribution and has emerged as a major public health problem in developing countries in South-East Asia and South America.  >> 翻訳 (Google)

24
(78.4%)

Schistosomiasis
----
住血吸虫症

脾腫 蛋白尿 鉄欠乏症貧血 黄疸

Schistosomiasis is an infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic.  >> 翻訳 (Google)

24
(78.4%)

Typhoid
----
腸チフス

脾腫 蛋白尿 貧血 黄疸

Typhoid or typhoid fever is a reportable, fecal-oral, potentially fatal infectious disease, caused by the bacteria Salmonella typhi and characterized by a non-focal fever.  >> 翻訳 (Google)

24
(78.4%)

Autoimmune hepatitis
----
自己免疫性肝炎

溶血性貧血 脾腫 血尿 黄疸

Chronic autoimmune hepatitis (AIH) is a rare progressive inflammatory disorder of unknown cause primarily affecting women and associated with circulating autoantibodies, elevated transaminase levels, and increased levels of immunoglobulin.  >> 翻訳 (Google)

24
(78.4%)

Kawasaki disease
----
川崎病

溶血性貧血 脾腫 蛋白尿 黄疸

多因子性遺伝

Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.  >> 翻訳 (Google)

24
(78.4%)

Brucellosis
----
ブルセラ症

溶血性貧血 脾腫 蛋白尿 黄疸

Brucellosis is an anthropozoonotic infection, endemic in the Mediterranean region, the Middle East, Latin America and parts of Asia and Africa, that is caused by gram-negative coccobacilli of the genus Brucella transmitted through consumption of unpasteurized dairy products or through direct contact with infected animals, placentas or aborted fetuses. Brucellosis is characterized by fever, fatigue, malaise, headache, anorexia, weight loss, sweating, osteomuscular pain (joint and lumbar pain), and arthritis.  >> 翻訳 (Google)

24
(78.4%)

Acute liver failure
----
急性肝不全

溶血性貧血 脾腫 高インスリン血症 黄疸

24
(78.4%)

Histoplasmosis
----
ヒストプラスマ症

溶血性貧血 脾腫 血尿 黄疸

24
(78.4%)

Hydrops fetalis
----
胎児水腫

溶血性貧血 脾腫 蛋白尿 黄疸

Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).  >> 翻訳 (Google)

24
(78.4%)

Langerhans cell histiocytosis

巨赤芽球性貧血 糖尿病 脾腫 黄疸

Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues.  >> 翻訳 (Google)

24
(78.4%)

Angiosarcoma
----
血管肉腫

脾腫 鉄欠乏症貧血 顔面浮腫 黄疸

24
(78.4%)

Malaria
----
マラリア

溶血性貧血 糖尿病 脾腫 黄疸

A life-threatening parasitic disease caused by Plasmodium (P. ) parasites that are transmitted by Anophles mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting.  >> 翻訳 (Google)

24
(78.4%)

Chronic myeloid leukemia
----
慢性骨髄性白血病

溶血性貧血 脾腫 蛋白尿 黄疸

体細胞突然変

Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.  >> 翻訳 (Google)

24
(78.4%)

Systemic sclerosis
----
全身性硬化症

脾腫 蛋白尿 鉄欠乏症貧血 黄疸

Systemic sclerosis (SSc) is a generalized disorder of small arteries, microvessels and connective tissue, characterized by fibrosis and vascular obliteration in the skin and organs, particularly the lungs, heart, and digestive tract. There are two main subsets of SSc: diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc) (see these terms). A third subset of SSc has also been observed, called limited Systemic Sclerosis (lSSc) or systemic sclerosis sine scleroderma (see these terms).  >> 翻訳 (Google)

24
(78.4%)

Cleft lip/palate

溶血性貧血 脾腫 血尿 黄疸

Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.  >> 翻訳 (Google)

24
(78.4%)

Sarcoidosis
----
サルコイドーシスへの感受性1

溶血性貧血 脾腫 蛋白尿 黄疸

Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.  >> 翻訳 (Google)

24
(78.4%)

Systemic lupus erythematosus

溶血性貧血 脾腫 蛋白尿 黄疸

58
(77.5%)

Severe congenital hypochromic anemia with ringed sideroblasts

大小不同生奇形赤血球 (Anisopoikilocytosis) 肝脾腫 血清フェリチン増加 貧血

常染色体優性遺伝

STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.  >> 翻訳 (Google)

58
(77.5%)

Acute erythroid leukemia

楕円赤血球症 糖尿病 肝脾腫 貧血

60
(77.5%)

Eosinophilic fasciitis
----
エオジン好性筋膜炎

浮腫 肢端チアノーゼ 脾腫 貧血

常染色体劣性遺伝

Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.  >> 翻訳 (Google)

60
(77.5%)

Inflammatory myofibroblastic tumor

チアノーゼ 脾腫 血尿 貧血

Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.  >> 翻訳 (Google)

60
(77.5%)

Dyskeratosis congenita
----
先天性角化異常症

チアノーゼ 糖尿病 脾腫 貧血

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.  >> 翻訳 (Google)

60
(77.5%)

Gaucher disease
----
ゴーシェ病

チアノーゼ 溶血性貧血 脾腫 蛋白尿

Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).  >> 翻訳 (Google)

60
(77.5%)

Immune thrombocytopenic purpura
----
血小板減少性紫斑病, 自己免疫性

チアノーゼ 溶血性貧血 脾腫 血尿

常染色体優性遺伝

Immune thrombocytopenic purpura (or immune thrombocytopenia; ITP) is an autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia.  >> 翻訳 (Google)

60
(77.5%)

Pyoderma gangrenosum
----
壊疽性膿皮症

多血症 溶血性貧血 脾腫 蛋白尿

Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate.  >> 翻訳 (Google)

60
(77.5%)

Tetralogy of Fallot
----
ファロー四徴症

チアノーゼ 浮腫 脾腫 貧血

常染色体優性遺伝 多因子性遺伝

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.  >> 翻訳 (Google)

60
(77.5%)

Meningioma
----
髄膜腫

多血症 溶血性貧血 脾腫 血尿

A rare, mostly benign, primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding.  >> 翻訳 (Google)

68
(77.2%)

Mevalonic aciduria
----
メヴァロン酸尿症

発熱 胆汁うっ滞 脾腫 貧血

常染色体劣性遺伝

A rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.  >> 翻訳 (Google)

68
(77.2%)

LCAT deficiency
----
レシチン-コレステロール・アシルトランスフェラーゼ欠損症

溶血性貧血 胆汁うっ滞 脾腫 蛋白尿

LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.  >> 翻訳 (Google)

68
(77.2%)

Toxocariasis
----
トキソカラ症

胆汁うっ滞 脾腫 蛋白尿 貧血

A cosmopolitan zoonotic disease caused in humans by the accidental ingestion of eggs or larvae of the ascarids Toxocara canis or Toxocara cati, the common round worm of dogs and cats respectively. The infestation can be asymptomatic or can present as visceral larva migrans caused by larval migration through major organs such as liver, lungs or central nervous system (manifesting with fever, cough, hepatomegaly, pneumonia or rarely encephalitis), or as ocular larva migrans caused by larval migration to the eye (manifesting as ocular inflammation and retinal scaring).  >> 翻訳 (Google)

68
(77.2%)

IgG4-related retroperitoneal fibrosis
----
IgG4関連後腹膜線維症

正球性貧血 胆汁うっ滞 脾腫 蛋白尿

Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle.  >> 翻訳 (Google)

72
(76.6%)

Progressive muscular atrophy
----
進行性筋萎縮症

有棘赤血球増加 発熱 肝脾腫

73
(76.3%)

Peutz-Jeghers syndrome
----
Peutz-Jeghers 症候群 (PJS)

尿管異常 脾腫 鉄欠乏症貧血 黄疸

常染色体優性遺伝

An inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies.  >> 翻訳 (Google)

74
(76.2%)

Lead poisoning
----
鉛中毒

楕円赤血球症 浮腫 溶血性貧血 黄疸

Lead poisoning is defined as acute or chronic exposure to lead resulting in lead accumulation (blood lead concentration (BLC) >5 ug/dL) that can affect every organ system in the body and to which children are more susceptible. Clinical manifestations depend on the amount and duration of exposure and include abdominal pain, colic, constipation, lead line on gingival tissue, arthralgia, myalgia, peripheral neuropathy, fatigue, irritability, anemia, chronic nephropathy and hypertension. In children, even low levels of exposure (BLC <5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.  >> 翻訳 (Google)

75
(75.6%)

Glutamate-cysteine ligase deficiency

アミノ酸尿 溶血性貧血 肝脾腫 黄疸

常染色体劣性遺伝

A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.  >> 翻訳 (Google)

75
(75.6%)

Neonatal hemochromatosis

浮腫 肝腫大 貧血 黄疸

常染色体劣性遺伝

Neonatal hemochromatosis (NH) is an iron storage disorder present at birth. It is a distinct entity that differs from adult hemochromatosis with respect to its molecular origin.  >> 翻訳 (Google)

75
(75.6%)

Hepatic veno-occlusive disease-immunodeficiency syndrome

汎低ガンマグロブリン血症 肝脾腫 貧血 黄疸

常染色体劣性遺伝

Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.  >> 翻訳 (Google)

75
(75.6%)

Lysosomal acid lipase deficiency
----
リソソーム酸性リパーゼ欠損症

肝脾腫 腎性塩類喪失 貧血 黄疸

常染色体劣性遺伝

Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis.  >> 翻訳 (Google)

75
(75.6%)

Congenital factor II deficiency

肝腫大 血尿 貧血 黄疸

常染色体劣性遺伝

An inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms.  >> 翻訳 (Google)

75
(75.6%)

VIPoma
----
VIP産生腫瘍

正色素性貧血 糖尿病 肝腫大 間歇的黄疸

VIPoma is an extremely rare type of pancreatic neuroendocrine tumor (see this term) that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).  >> 翻訳 (Google)