Terminology Service < Semantic Lookup Platform

All terms in MESHD

Label	Id	Description
Sjogren-Larsson Syndrome	D016111	[An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism.]
Ichthyosis Vulgaris	D016112	[Most common form of ICHTHYOSIS characterized by prominent scaling especially on the exterior surfaces of the extremities. It is inherited as an autosomal dominant trait.]
Ichthyosis, X-Linked	D016114	[Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency.]
Multiple Chemical Sensitivity	D018777	[An acquired disorder characterized by recurrent symptoms, referable to multiple organ systems, occurring in response to demonstrable exposure to many chemically unrelated compounds at doses below those established in the general population to cause harmful effects. (Cullen MR. The worker with multiple chemical sensitivities: an overview. Occup Med 1987;2(4):655-61)]
Albinism, Oculocutaneous	D016115	[Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.]
Piebaldism	D016116	[Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.]
Albinism, Ocular	D016117	[Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.]
Primary Myelofibrosis	D055728	[A de novo myeloproliferation arising from an abnormal stem cell. It is characterized by the replacement of bone marrow by fibrous tissue, a process that is mediated by CYTOKINES arising from the abnormal clone.]
Leukemia, Prolymphocytic, B-Cell	D054403	[A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly.]
Oligodendroglioma	D009837	[A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)]
Oligomenorrhea	D009839	[Abnormally infrequent menstruation.]
Impotence, Vasculogenic	D018783	[Inability to achieve and maintain an erection (ERECTILE DYSFUNCTION) due to defects in the arterial blood flow to the PENIS, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both.]
Dermatitis, Photoallergic	D017454	[A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin.]
Tricuspid Atresia	D018785	[Absence of the orifice between the RIGHT ATRIUM and RIGHT VENTRICLE, with the presence of an atrial defect through which all the systemic venous return reaches the left heart. As a result, there is left ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR) because the right ventricle is absent or not functional.]
Alice in Wonderland Syndrome	D062026	[Neurological condition characterized by disturbances in VISUAL PERCEPTION, most often of BODY SCHEMA, TIME PERCEPTION and HALLUCINATIONS. It is associated with MIGRAINE, infections (e.g., INFECTIOUS MONONUCLEOSIS), FEVER, EPILEPSY, and other neurological and psychiatric disorders.]
Organophosphate Poisoning	D062025	[Poisoning due to exposure to ORGANOTHIOPHOSPHORUS COMPOUNDS., Poisoning due to exposure to ORGANOPHOSPHORUS COMPOUNDS, such as ORGANOPHOSPHATES; ORGANOTHIOPHOSPHATES; and ORGANOTHIOPHOSPHONATES.]
Linear IgA Bullous Dermatosis	D062027	[Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of IMMUNOGLOBULIN A and occasionally IMMUNOGLOBULIN G classes against epidermal BASEMENT MEMBRANE proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., VANCOMYCIN).]
Flushing	D005483	[A transient reddening of the face that may be due to fever, certain drugs, exertion, or stress.]
Dipetalonema Infections	D004154	[Infections with nematodes of the genus DIPETALONEMA.]
Oligospermia	D009845	[A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen.]