Terminology Service < Semantic Lookup Platform

All terms in MESHD

Label	Id	Description
Basal Ganglia Hemorrhage	D020145	[A collection of blood in BASAL GANGLIA., Bleeding within the subcortical regions of cerebral hemispheres (BASAL GANGLIA). It is often associated with HYPERTENSION or ARTERIOVENOUS MALFORMATIONS. Clinical manifestations may include HEADACHE; DYSKINESIAS; and HEMIPARESIS.]
Cerebral Hemorrhage	D002543	[Bleeding into one or both CEREBRAL HEMISPHERES including the BASAL GANGLIA and the CEREBRAL CORTEX. It is often associated with HYPERTENSION and CRANIOCEREBRAL TRAUMA.]
Putaminal Hemorrhage	D020146	[Intracranial bleeding into the PUTAMEN, a BASAL GANGLIA nucleus. This is associated with HYPERTENSION and lipohyalinosis of small blood vessels in the putamen. Clinical manifestations vary with the size of hemorrhage, but include HEMIPARESIS; HEADACHE; and alterations of consciousness., A collection of blood in PUTAMEN.]
Coagulation Protein Disorders	D020147	[Hemorrhagic and thrombotic disorders resulting from abnormalities or deficiencies of coagulation proteins.]
Blood Coagulation Disorders	D001778	[Hemorrhagic and thrombotic disorders that occur as a consequence of abnormalities in blood coagulation due to a variety of factors such as COAGULATION PROTEIN DISORDERS; BLOOD PLATELET DISORDERS; BLOOD PROTEIN DISORDERS or nutritional conditions.]
Lysosomal Storage Diseases, Nervous System	D020140	[A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes.]
Lysosomal Storage Diseases	D016464	[Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.]
Brain Diseases, Metabolic, Inborn	D020739	[Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.]
Incontinentia Pigmenti	D007184	[A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages.]
Skin Abnormalities	D012868	[Congenital structural abnormalities of the skin.]
Abnormalities, Multiple	D000015	[Congenital abnormalities that affect more than one organ or body structure.]
Skin Diseases, Genetic	D012873	[Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.]
Pigmentation Disorders	D010859	[Diseases affecting PIGMENTATION, including SKIN PIGMENTATION.]
Hemostatic Disorders	D020141	[Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of BLOOD VESSELS, blood fluidity, and BLOOD COAGULATION. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the VASCULAR ENDOTHELIUM, the plasma proteins (including BLOOD COAGULATION FACTORS), and PLATELETS.]
Hemorrhagic Disorders	D006474	[Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS).]
Vascular Diseases	D014652	[Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body.]
Lymphadenopathy	D000072281	[Disease of LYMPH NODES which are abnormal in size, number or consistency.]
Lymphatic Diseases	D008206	[Diseases of LYMPH; LYMPH NODES; or LYMPHATIC VESSELS.]
Gangliosidoses, GM2	D020143	[A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.]
Gangliosidoses	D005733	[A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.]