Terminology Service < Semantic Lookup Platform

All terms in MESHD

Label	Id	Description
Myeloproliferative Disorders	D009196	[Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE.]
Citrullinemia	D020159	[A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)]
Urea Cycle Disorders, Inborn	D056806	[Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.]
Chondromalacia Patellae	D046789	[A degeneration of the ARTICULAR CARTILAGE of the PATELLA, caused by a decrease in sulfated MUCOPOLYSACCHARIDES in the ground substance. When accompanied by pain, it is sometimes considered part of or confused with PATELLOFEMORAL PAIN SYNDROME.]
Cartilage Diseases	D002357	[Softening and degeneration of the CARTILAGE., Pathological processes involving the chondral tissue (CARTILAGE).]
Patellofemoral Pain Syndrome	D046788	[A syndrome characterized by retropatellar or peripatellar PAIN resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) CHONDROMALACIA PATELLAE, the latter describing a pathological condition of the CARTILAGE and not a syndrome.]
Joint Diseases	D007592	[Diseases involving the JOINTS.]
Erythroplasia	D004919	[A condition of the mucous membrane characterized by erythematous papular lesions.]
Amino Acid Transport Disorders, Inborn	D020157	[Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epithelial cell membranes of the small intestine (MICROVILLI) and KIDNEY TUBULES; transport across the basolateral membrane; and transport across the membranes of intracellular organelles. (From Nippon Rinsho 1992 Jul;50(7):1587-92)]
Metabolism, Inborn Errors	D008661	[Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.]
Hyperglycinemia, Nonketotic	D020158	[An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system.]
Protein C Deficiency	D020151	[An absence or deficiency in PROTEIN C which leads to impaired regulation of blood coagulation. It is associated with an increased risk of severe or premature thrombosis. (Stedman's Med. Dict., 26th ed.)]
Thrombophilia	D019851	[A disorder of HEMOSTASIS in which there is a tendency for the occurrence of THROMBOSIS.]
Blood Protein Disorders	D001796	[Hematologic diseases caused by structural or functional defects of BLOOD PROTEINS.]
Blood Coagulation Disorders, Inherited	D025861	[Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.]
Antithrombin III Deficiency	D020152	[An absence or reduced level of Antithrombin III leading to an increased risk for thrombosis.]
Chorea Gravidarum	D020150	[A rare movement disorder developed during PREGNANCY, characterized by involuntary jerky motion (CHOREA) and inability to maintain stable position of body parts (ATHETOSIS). RHEUMATIC FEVER and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)]
Chorea	D002819	[Involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. Hypotonia and pendular reflexes are often associated. Conditions which feature recurrent or persistent episodes of chorea as a primary manifestation of disease are referred to as CHOREATIC DISORDERS. Chorea is also a frequent manifestation of BASAL GANGLIA DISEASES.]
Pregnancy Complications	D011248	[Conditions or pathological processes associated with pregnancy. They can occur during or after pregnancy, and range from minor discomforts to serious diseases that require medical interventions. They include diseases in pregnant females, and pregnancies in females with diseases.]
Prader-Willi Syndrome	D011218	[An association of DIABETES MELLITUS with Prader-Willi Syndrome., An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)]