75
(75.6%)

Juvenile xanthogranuloma
----
若年性黄色肉芽腫

肝脾腫 貧血 高リポ蛋白血症 黄疸

Juvenile xanthogranuloma is the most common type of non-Langerhans cell histiocytosis (see this term) characterized by the occurrence of one or more reddish or yellowish self-limiting and benign papules or nodules of several millimeters in diameter, usually appearing on the head and neck (but sometimes on the extremities and trunk) during the first year of life (or rarely in adulthood) and usually regressing spontaneously. Extracutaneous involvement has also been reported, involving most commonly the eye (uveal tract) but with other locations including the central nervous system, lung, liver, bones and endocrine glands, and may be associated with considerable morbidity.  >> 翻訳 (Google)

75
(75.6%)

Infant acute respiratory distress syndrome

代謝性アシドーシス 肝脾腫 貧血 黄疸

多因子性遺伝 孤発性

Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.  >> 翻訳 (Google)

75
(75.6%)

Somatostatinoma
----
ソマトスタチン産生腫瘍

糖尿病 肝腫大 貧血 黄疸

Somatostatinoma (SSoma) is an extremely rare pancreatic neuroendocrine tumor or duodenal endocrine tumor (see these terms) that originates either in the pancreas (50%) or the gastrointestinal tract (50%) and mainly presents with non-specific symptoms of abdominal pain, weight loss, jaundice and diarrhea but, in approximately 20% of pancreatic cases, leads to a somatostatin hypersecretion syndrome (somatostatinoma syndrome) characterized by diabetes mellitus, cholelithiasis, steatorrhea and hypochlorhydria.  >> 翻訳 (Google)

75
(75.6%)

Congenital toxoplasmosis
----
先天性トキソプラズマ症

糖尿病 肝脾腫 貧血 黄疸

Congenital toxoplasmosis (CTX) is an embryo-fetopathy characterized by ocular, visceral or intracranial lesions secondary to maternal primo-infection by Toxoplasma gondii (Tg).  >> 翻訳 (Google)

75
(75.6%)

Cystic echinococcosis
----
嚢胞性包虫症

肝腫大 血尿 貧血 黄疸

Hydatidosis or cyst hydatic disease is a cosmopolitan larval cestodosis caused principally by the Echinococcus granulosus tapeworm, the adult form of which parasitises the intestine of dogs. Hydatidosis generally affects large domestic herbivores; humans are dead-end hosts, infected through contact with herding dogs or through ingestion of food contaminated with canine excrement.  >> 翻訳 (Google)

75
(75.6%)

Dengue fever
----
デング熱

浮腫 肝腫大 貧血 黄疸

Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).  >> 翻訳 (Google)

75
(75.6%)

Chondrosarcoma
----
軟骨肉腫

糖尿病 肝脾腫 貧血 黄疸

常染色体劣性遺伝

Chondrosarcoma is a malignant bone tumor arising from cartilaginous tissue, most frequently occuring at the ends of the femur and tibia, the proximal end of the humerus and the pelvis; and presenting with a palpable mass and progressive pain. Chondrosarcoma is usually slow growing at low histological grades and can be well managed by intralesional curettage or en-block wide resection.  >> 翻訳 (Google)

75
(75.6%)

AL amyloidosis
----
ALアミロイド症

肝脾腫 蛋白尿 貧血 黄疸

A plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.  >> 翻訳 (Google)

75
(75.6%)

Plasmacytoma
----
形質細胞腫

肝脾腫 蛋白尿 貧血 黄疸

Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.  >> 翻訳 (Google)

75
(75.6%)

Leprosy
----
ハンセン病

溶血性貧血 肝脾腫 蛋白尿 黄疸

A chronic infectious disease affecting primarily the skin and peripheral nervous system.  >> 翻訳 (Google)

75
(75.6%)

Leiomyosarcoma
----
平滑筋肉腫

溶血性貧血 肝腫大 蛋白尿 黄疸

75
(75.6%)

Polymyositis
----
多発性筋炎

溶血性貧血 肝脾腫 蛋白尿 黄疸

A rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes.  >> 翻訳 (Google)

75
(75.6%)

Neurofibromatosis type 1
----
神経線維腫症1型

糖尿病 肝脾腫 鉄欠乏症貧血 黄疸

常染色体優性遺伝

Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.  >> 翻訳 (Google)

75
(75.6%)

Small cell lung cancer
----
小細胞肺癌

溶血性貧血 肝腫大 蛋白尿 黄疸

常染色体優性遺伝

Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized by rapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.  >> 翻訳 (Google)

75
(75.6%)

Thymoma
----
胸腺腫

溶血性貧血 肝脾腫 蛋白尿 黄疸

Thymoma is a thymic epithelial neoplasm (TEN; see this term), a rare malignancy that arises from the epithelium of the thymic gland.  >> 翻訳 (Google)

75
(75.6%)

Down syndrome
----
ダウン症候群

溶血性貧血 肝脾腫 蛋白尿 黄疸

孤発性

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.  >> 翻訳 (Google)

97
(75.1%)

Aggressive systemic mastocytosis
----
侵襲性全身性肥満細胞症

口内乾燥症 胆汁うっ滞 脾腫 貧血

A severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues.  >> 翻訳 (Google)

98
(74.9%)

Autoimmune lymphoproliferative syndrome
----
自己免疫性リンパ増殖症候群 (ALPS)

Abnormal vitamin B12 level 脾腫 自己免疫性溶血性貧血 黄疸

A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.  >> 翻訳 (Google)

98
(74.9%)

POEMS syndrome
----
POEMS症候群

ビタミンB12欠乏症 多血症 脾腫 貧血 黄疸

POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.  >> 翻訳 (Google)

98
(74.9%)

Multiple myeloma
----
多発性骨髄腫

ビタミン B12代謝の異常 溶血性貧血 脾腫 黄疸

常染色体劣性遺伝 体細胞突然変

Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).  >> 翻訳 (Google)

98
(74.9%)

Tuberculosis
----
結核

ビタミンB12欠乏症 溶血性貧血 脾腫 黄疸

Tuberculosis (TB) is a contagious-infectious disease caused mainly by Mycobacterium tuberculosis that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency.  >> 翻訳 (Google)

102
(74.8%)

Crigler-Najjar syndrome
----
Crigler-Najjar 症候群 I 型

多脾症 溶血性貧血 高ビリルビン血症 黄疸

Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.  >> 翻訳 (Google)

102
(74.8%)

Murine typhus
----
発疹熱

発熱 脾破裂 貧血 黄疸

102
(74.8%)

Congenital diaphragmatic hernia
----
先天性横隔膜ヘルニア

低体温 脾破裂 貧血 黄疸

Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.  >> 翻訳 (Google)

102
(74.8%)

Hemophilia A
----
血友病 A

脾破裂 血尿 鉄欠乏症貧血 黄疸

常染色体優性遺伝 X連鎖劣性遺伝

Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.  >> 翻訳 (Google)

102
(74.8%)

Cholangiocarcinoma
----
胆管細胞癌

多脾症 糖尿病 鉄欠乏症貧血 黄疸

Cholangiocarcinoma (CCA) is a biliary tract cancer (BTC, see this term) originating in the epithelium of the biliary tree, either intra or extra hepatic.  >> 翻訳 (Google)

102
(74.8%)

Rhabdomyosarcoma
----
横紋筋肉腫

Splenogonadal fusion 血尿 貧血 黄疸

A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents.  >> 翻訳 (Google)

108
(74.8%)

Primary sclerosing cholangitis
----
原発性硬化性胆管炎

ビタミンA欠乏症 溶血性貧血 脾腫 黄疸

常染色体優性遺伝 多因子性遺伝

Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.  >> 翻訳 (Google)

108
(74.8%)

Cystic fibrosis
----
嚢胞性線維症 (CF)

ビタミンA欠乏症 溶血性貧血 脾腫 黄疸

常染色体劣性遺伝

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.  >> 翻訳 (Google)

110
(74.7%)

Eisenmenger syndrome
----
アイゼンメンゲル症候群

チアノーゼ 肝腫大 蛋白尿 鉄欠乏症貧血

Eisenmenger syndrome (ES) is a form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.  >> 翻訳 (Google)

110
(74.7%)

Interatrial communication

チアノーゼ 巨赤芽球性貧血 浮腫 肝脾腫

Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart.  >> 翻訳 (Google)

112
(74.6%)

Kasabach-Merritt syndrome
----
血管腫-血小板減少症候群

溶血性貧血 脾機能亢進 血尿 黄疸

常染色体優性遺伝

Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.  >> 翻訳 (Google)

112
(74.6%)

Kaposi sarcoma
----
カポジ肉腫

微小血管症性溶血性貧血 浮腫 脾の異常 黄疸

A rare vascular tumor that is characterized by human herpes virus 8 (HHV-8)-induced endothelial inflammatory neoplasm that develops with various clinically distinct settings, manifesting mostly as cutaneous lesions, or mucosal or visceral involvement.  >> 翻訳 (Google)

114
(74.6%)

Rapidly progressive glomerulonephritis
----
急速進行性糸球体腎炎

溶血性貧血 胆嚢炎 脾腫 蛋白尿

114
(74.6%)

Mixed connective tissue disease
----
混合性結合組織病

溶血性貧血 糖尿病 脾腫 血性胆汁

Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) (see these terms) and/or rheumatoid arthritis (RA).  >> 翻訳 (Google)

114
(74.6%)

Leishmaniasis
----
リーシュマニア症

溶血性貧血 胆嚢炎 脾腫 蛋白尿

A parasitic disease caused by different species of the genus Leishmania, transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).  >> 翻訳 (Google)

114
(74.6%)

22q11.2 deletion syndrome
----
22q11.2欠失症候群

糖尿病 胆石症 脾腫 貧血

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.  >> 翻訳 (Google)

114
(74.6%)

Polyarteritis nodosa
----
結節性多発動脈炎

溶血性貧血 胆嚢炎 脾腫 蛋白尿

Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney.  >> 翻訳 (Google)

119
(74.4%)

AA amyloidosis
----
AAアミロイド症

正球性貧血 肝脾腫 胆汁うっ滞 蛋白尿

Secondary amyloidosis is a form of amyloidosis (see this term), that complicates chronic inflammatory disorders (mainly rheumatoid arthritis, see this term) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.  >> 翻訳 (Google)

120
(74.4%)

Congenital dyserythropoietic anemia type II

グリコシル化異常 溶血性貧血 脾腫 黄疸

常染色体劣性遺伝

Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.  >> 翻訳 (Google)