Terminology Service < Semantic Lookup Platform

All terms in MESHD

Label	Id	Description
Cholesteatoma	D002781	[A non-neoplastic mass of keratin-producing squamous EPITHELIUM, frequently occurring in the MENINGES; bones of the skull, and most commonly in the MIDDLE EAR and MASTOID region. Cholesteatoma can be congenital or acquired. Cholesteatoma is not a tumor nor is it associated with high CHOLESTEROL.]
Adrenal Hyperplasia, Congenital	D000312	[A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders.]
Adrenal Gland Diseases	D000307	[Pathological processes of the ADRENAL GLANDS.]
Adrenal Gland Neoplasms	D000310	[Tumors or cancer of the ADRENAL GLANDS.]
Hemoglobin SC Disease	D006450	[One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia.]
Anemia, Sickle Cell	D000755	[A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.]
Byssinosis	D002095	[A condition of BRONCHOCONSTRICTION resulting from hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp in the textile industry. Symptoms include wheezing and tightness in the chest.]
Pure Autonomic Failure	D054970	[A degenerative disease of the AUTONOMIC NERVOUS SYSTEM that is characterized by idiopathic ORTHOSTATIC HYPOTENSION and a greatly reduced level of CATECHOLAMINES. No other neurological deficits are present.]
Postural Orthostatic Tachycardia Syndrome	D054972	[A syndrome of ORTHOSTATIC INTOLERANCE combined with excessive upright TACHYCARDIA, and usually without associated ORTHOSTATIC HYPOTENSION. All variants have in common an excessively reduced venous return to the heart (central HYPOVOLEMIA) while upright.]
Perivascular Epithelioid Cell Neoplasms	D054973	[PEComas containing glycogen-rich clear cytoplasm and found in the lung and a wide range of extrapulmonary sites., A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002)., PEComas of the falciform ligament / ligamentum teres.]
Pallister-Hall Syndrome	D054975	[A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member.]
Hamartoma	D006222	[A focal malformation resembling a neoplasm, composed of an overgrowth of mature cells and tissues that normally occur in the affected area.]
Polydactyly	D017689	[A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.]
Hemoglobinuria	D006456	[The presence of free HEMOGLOBIN in the URINE, indicating hemolysis of ERYTHROCYTES within the vascular system. After saturating the hemoglobin-binding proteins (HAPTOGLOBINS), free hemoglobin begins to appear in the urine.]
Non-alcoholic Fatty Liver Disease	D065626	[Fatty liver finding without excessive ALCOHOL CONSUMPTION.]
Hemoglobinuria, Paroxysmal	D006457	[A condition characterized by the recurrence of HEMOGLOBINURIA caused by intravascular HEMOLYSIS. In cases occurring upon cold exposure (paroxysmal cold hemoglobinuria), usually after infections, there is a circulating antibody which is also a cold hemolysin. In cases occurring during or after sleep (paroxysmal nocturnal hemoglobinuria), the clonal hematopoietic stem cells exhibit a global deficiency of cell membrane proteins.]
Myelodysplastic Syndromes	D009190	[Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.]
Anemia, Hemolytic	D000743	[Acquired anemia due to destruction of red blood cells by physical trauma such as FIBRIN strands in the blood vessels, artificial heart valve, AORTIC COARCTATION. I can also be associated with hematologic diseases such as DISSEMINATED INTRAVASCULAR COAGULATION; HEMOLYTIC-UREMIC SYNDROME; and THROMBOTIC THROMBOCYTOPENIC PURPURA., A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).]
Eye Burns	D005126	[Injury to any part of the eye by extreme heat, chemical agents, or ultraviolet radiation.]
Eye Injuries	D005131	[Damage or trauma inflicted to the eye by external means. The concept includes both surface injuries and intraocular injuries.]