Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)


A class of traumatic stress disorders with symptoms that last more than one month.


narrowing or stricture of the vessels carrying blood away from the heart.


A symptom resulting from laryngeal obstruction. It is characterized by a high pitched breathing sound.


Stroke
Cerebral vascular events
Cerebrovascular accident

A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)


A disturbance in the normal fluency and time patterning of speech that is inappropriate for the individual's age. This disturbance is characterized by frequent repetitions or prolongations of sounds or syllables. Various other types of speech dysfluencies may also be involved including interjections, broken words, audible or silent blocking, circumlocutions, words produced with an excess of physical tension, and monosyllabic whole word repetitions. Stuttering may occur as a developmental condition in childhood or as an acquired disorder which may be associated with BRAIN INFARCTIONS and other BRAIN DISEASES. (From DSM-IV, 1994)


Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status.


Blood between the conjunctiva and sclera.


Subungual hyperkeratosis
Thickened, discolored skin under nail

A thickening of the stratum corneum in the region beneath the nails. [HPO:probinson]


A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms which is called Pemberton's sign. Classification of SVC obstruction is often based on COLLATERAL CIRCULATION.


Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and BRAIN STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation.


The process of exocrine secretion of the SWEAT GLANDS, including the aqueous sweat from the ECCRINE GLANDS and the complex viscous fluids of the APOCRINE GLANDS.


An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with PAROTID NEOPLASMS, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)


A transient loss of consciousness and postural tone caused by diminished blood flow to the brain (i.e., BRAIN ISCHEMIA). Presyncope refers to the sensation of lightheadedness and loss of strength that precedes a syncopal event or accompanies an incomplete syncope. (From Adams et al., Principles of Neurology, 6th ed, pp367-9)


A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.


A malignant neoplasm arising from tenosynovial tissue of the joints and in synovial cells of tendons and bursae. The legs are the most common site, but the tumor can occur in the abdominal wall and other trunk muscles. There are two recognized types: the monophasic (characterized by sheaths of monotonous spindle cells) and the biphasic (characterized by slit-like spaces or clefts within the tumor, lined by cuboidal or tall columnar epithelial cells). These sarcomas occur most commonly in the second and fourth decades of life. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1363)


Longitudinal cavities in the spinal cord, most often in the cervical region, which may extend for multiple spinal levels. The cavities are lined by dense, gliogenous tissue and may be associated with SPINAL CORD NEOPLASMS; spinal cord traumatic injuries; and vascular malformations. Syringomyelia is marked clinically by pain and PARESTHESIA, muscular atrophy of the hands, and analgesia with thermoanesthesia of the hands and arms, but with the tactile sense preserved (sensory dissociation). Lower extremity spasticity and incontinence may also develop. (From Adams et al., Principles of Neurology, 6th ed, p1269)


Racing heart
Tachycardia
Heart racing
Rapid heart beat
Increased heart rate

Abnormally rapid heartbeat, usually with a HEART RATE above 100 beats per minute for adults. Tachycardia accompanied by disturbance in the cardiac depolarization (cardiac arrhythmia) is called tachyarrhythmia.


Abnormally rapid heartbeats originating from one or more automatic foci (nonsinus pacemakers) in the HEART ATRIUM but away from the SINOATRIAL NODE. Unlike the reentry mechanism, automatic tachycardia speeds up and slows down gradually. The episode is characterized by a HEART RATE between 135 to less than 200 beats per minute and lasting 30 seconds or longer.


A rare form of supraventricular tachycardia caused by automatic, not reentrant, conduction initiated from sites at the atrioventricular junction, but not the ATRIOVENTRICULAR NODE. It usually occurs during myocardial infarction, after heart surgery, or in digitalis intoxication with a HEART RATE ranging from 140 to 250 beats per minute.


Abnormally rapid heartbeats with sudden onset and cessation.


Simple rapid heartbeats caused by rapid discharge of impulses from the SINOATRIAL NODE, usually between 100 and 180 beats/min in adults. It is characterized by a gradual onset and termination. Sinus tachycardia is common in infants, young children, and adults during strenuous physical activities.


A generic expression for any tachycardia that originates above the BUNDLE OF HIS.


A foot deformity in which the arch of the foot is high and often the heel adducted.


Permanent dilation of preexisting blood vessels (CAPILLARIES; ARTERIOLES; VENULES) creating small focal red lesions, most commonly in the skin or mucous membranes. It is characterized by the prominence of skin blood vessels, such as vascular spiders.


Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body.


A true neoplasm composed of a number of different types of tissue, none of which is native to the area in which it occurs. It is composed of tissues that are derived from three germinal layers, the endoderm, mesoderm, and ectoderm. They are classified histologically as mature (benign) or immature (malignant). (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1642)


Testicular neoplasia
Testicular neoplasm
Testicular tumour

Tumors or cancer of the TESTIS. Germ cell tumors (GERMINOMA) of the testis constitute 95% of all testicular neoplasms.


A disorder characterized by muscle twitches, cramps, and carpopedal spasm, and when severe, laryngospasm and seizures. This condition is associated with unstable depolarization of axonal membranes, primarily in the peripheral nervous system. Tetany usually results from HYPOCALCEMIA or reduced serum levels of MAGNESIUM that may be associated with HYPERVENTILATION; HYPOPARATHYROIDISM; RICKETS; UREMIA; or other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1490)


A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS.


Low levels of vitamin B1
Reduced blood thiamine level

A nutritional condition produced by a deficiency of THIAMINE in the diet, characterized by anorexia, irritability, and weight loss. Later, patients experience weakness, peripheral neuropathy, headache, and tachycardia. In addition to being caused by a poor diet, thiamine deficiency in the United States most commonly occurs as a result of alcoholism, since ethanol interferes with thiamine absorption. In countries relying on polished rice as a dietary staple, BERIBERI prevalence is very high. (From Cecil Textbook of Medicine, 19th ed, p1171)


A state of insufficient flesh on the body usually defined as having a body weight less than skeletal and physical standards, such as BODY MASS INDEX, and dependent on age, sex, and genetic background.


A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance. [PMID:12162234, PMID:18493546]


A congenital bleeding disorder with prolonged bleeding time, absence of aggregation of platelets in response to most agents, especially ADP, and impaired or absent clot retraction. Platelet membranes are deficient in or have a defect in the glycoprotein IIb-IIIa complex (PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX).


Thromboembolism
Thromboembolic events
Thromboembolic disease

Obstruction of a blood vessel (embolism) by a blood clot (THROMBUS) in the blood stream.


Inflammation of a vein associated with a blood clot (THROMBUS).


A neoplasm originating from thymic tissue, usually benign, and frequently encapsulated. Although it is occasionally invasive, metastases are extremely rare. It consists of any type of thymic epithelial cell as well as lymphocytes that are usually abundant. Malignant lymphomas that involve the thymus, e.g., lymphosarcoma, Hodgkin's disease (previously termed granulomatous thymoma), should not be regarded as thymoma. (From Stedman, 25th ed)


Enlargement of the thymus. A condition described in the late 1940's and 1950's as pathological thymic hypertrophy was status thymolymphaticus and was treated with radiotherapy. Unnecessary removal of the thymus was also practiced. It later became apparent that the thymus undergoes normal physiological hypertrophy, reaching a maximum at puberty and involuting thereafter. The concept of status thymolymphaticus has been abandoned. Thymus hyperplasia is present in two thirds of all patients with myasthenia gravis. (From Segen, Dictionary of Modern Medicine, 1992; Cecil Textbook of Medicine, 19th ed, p1486)


A cyst in the neck caused by persistence of portions of, or by lack of closure of, the primitive thyroglossal duct. (Dorland, 27th ed)


A dangerous life-threatening hypermetabolic condition characterized by high FEVER and dysfunction of the cardiovascular, the nervous, and the gastrointestinal systems.


Pathological processes involving the THYROID GLAND.


A small circumscribed mass in the THYROID GLAND that can be of neoplastic growth or non-neoplastic abnormality. It lacks a well-defined capsule or glandular architecture. Thyroid nodules are often benign but can be malignant. The growth of nodules can lead to a multinodular goiter (GOITER, NODULAR).


Inflammatory diseases of the THYROID GLAND. Thyroiditis can be classified into acute (THYROIDITIS, SUPPURATIVE), subacute (granulomatous and lymphocytic), chronic fibrous (Riedel's), chronic lymphocytic (HASHIMOTO DISEASE), transient (POSTPARTUM THYROIDITIS), and other AUTOIMMUNE THYROIDITIS subtypes.


Fractured tibia
Tibial fracture
Broken tibia
Fracture of the tibia


A fungal infection of the nail, usually caused by DERMATOPHYTES; YEASTS; or nondermatophyte MOLDS.


A nonspecific symptom of hearing disorder characterized by the sensation of buzzing, ringing, clicking, pulsations, and other noises in the ear. Objective tinnitus refers to noises generated from within the ear or adjacent structures that can be heard by other individuals. The term subjective tinnitus is used when the sound is audible only to the affected individual. Tinnitus may occur as a manifestation of COCHLEAR DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES; INTRACRANIAL HYPERTENSION; CRANIOCEREBRAL TRAUMA; and other conditions.


Lingual furrow
Fissured tongue
Furrowed tongue
Prominent tongue grooves
Plicated tongue
Scrotal tongue
Lingue plicata

The occurrence of of breaks or slits in the tissue of the dorsal surface of the TONGUE.


A pupillary abnormality characterized by a poor pupillary light reaction, reduced accommodation, iris sector palsies, an enhanced pupillary response to near effort that results in a prolonged, "tonic" constriction, and slow pupillary redilation. This condition is associated with injury to the postganglionic parasympathetic innervation to the pupil. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp492-500)


Misshapened teeth
Malformed teeth
Misshapen teeth
Abnormality of dental morphology
Dental deformity
Tooth abnormalities
Deformity of teeth
Abnormality of dental shape
Abnormality of shape of tooth
Abnormally shaped teeth
Dental malformations

Congenital absence of or defects in structures of the teeth.


Dental overcrowding
Dental crowding
Overcrowding of teeth

The condition when the summation of the mesio distal width of the teeth is larger than the arch perimeter.


A tooth that is prevented from erupting by a physical barrier, usually other teeth. Impaction may also result from orientation of the tooth in an other than vertical position in the periodontal structures.


Supernumerary teeth
Extra tooth
Supernumerary tooth
Supernumary dentition
Supplemental teeth
Tooth, supernumerary
Extra teeth
Supplemental dentition
More teeth than normal
Increased tooth count
Supernumary teeth
Hyperdontia

An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption.


Pseudoanodontia
Eruption failure
Unerupted tooth
Pseudo-anodontia
Unerupted dentition

A normal developing tooth which has not yet perforated the oral mucosa or one that fails to erupt in the normal sequence or time interval expected for the type of tooth in a given gender, age, or population group.


A malignant form of polymorphic ventricular tachycardia that is characterized by HEART RATE between 200 and 250 beats per minute, and QRS complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long QT intervals exceeding 500 milliseconds or BRADYCARDIA. Torsades de pointes may be self-limited or may progress to VENTRICULAR FIBRILLATION.


A symptom, not a disease, of a twisted neck. In most instances, the head is tipped toward one side and the chin rotated toward the other. The involuntary muscle contractions in the neck region of patients with torticollis can be due to congenital defects, trauma, inflammation, tumors, and neurological or other factors.


New abnormal growth of tissue in the TRACHEA.


A pathological narrowing of the TRACHEA.


Abnormal passage between the ESOPHAGUS and the TRACHEA, acquired or congenital, often associated with ESOPHAGEAL ATRESIA.


A congenital cardiovascular malformation in which the AORTA arises entirely from the RIGHT VENTRICLE, and the PULMONARY ARTERY arises from the LEFT VENTRICLE. Consequently, the pulmonary and the systemic circulations are parallel and not sequential, so that the venous return from the peripheral circulation is re-circulated by the right ventricle via aorta to the systemic circulation without being oxygenated in the lungs. This is a potentially lethal form of heart disease in newborns and infants.


Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE.


Tricuspid insufficiency
Tricuspid regurgitation

Backflow of blood from the RIGHT VENTRICLE into the RIGHT ATRIUM due to imperfect closure of the TRICUSPID VALVE.


Abnormal protrusion of one or more of the leaflets of TRICUSPID VALVE into the RIGHT ATRIUM during SYSTOLE. This allows the backflow of blood into right atrium leading to TRICUSPID VALVE INSUFFICIENCY; SYSTOLIC MURMURS. Its most common cause is not primary valve abnormality but rather the dilation of the RIGHT VENTRICLE and the tricuspid annulus.


The pathologic narrowing of the orifice of the TRICUSPID VALVE. This hinders the emptying of RIGHT ATRIUM leading to elevated right atrial pressure and systemic venous congestion. Tricuspid valve stenosis is almost always due to RHEUMATIC FEVER.


A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)


Spasmodic contraction of the masseter muscle resulting in forceful jaw closure. This may be seen with a variety of diseases, including TETANUS, as a complication of radiation therapy, trauma, or in association with neoplastic conditions.


Trophoblastic growth, which may be gestational or nongestational in origin. Trophoblastic neoplasia resulting from pregnancy is often described as gestational trophoblastic disease to distinguish it from germ cell tumors which frequently show trophoblastic elements, and from the trophoblastic differentiation which sometimes occurs in a wide variety of epithelial cancers. Gestational trophoblastic growth has several forms, including HYDATIDIFORM MOLE and CHORIOCARCINOMA. (From Holland et al., Cancer Medicine, 3d ed, p1691)


The arterial trunk arising from the fetal heart. During development, it divides into AORTA and the PULMONARY ARTERY.


Nephritis, Tubulointerstitial
Tubulointerstitial nephropathy
Interstitial nephritis

Disease affecting the renal tubules and interstitium of the kidney.


Fractures of the larger bone of the forearm.


Loss of the ability to maintain awareness of self and environment combined with markedly reduced responsiveness to environmental stimuli. (From Adams et al., Principles of Neurology, 6th ed, pp344-5)


Adverse drug response
Toxic drug response
Drug-induced reaction
Drug-induced response

Disorders that result from the intended use of PHARMACEUTICAL PREPARATIONS. Included in this heading are a broad variety of chemically-induced adverse conditions due to toxicity, DRUG INTERACTIONS, and metabolic effects of pharmaceuticals.


Redness of the skin produced by congestion of the capillaries. This condition may result from a variety of disease processes.


Cyst occurring in a persistent portion of the urachus, presenting as an extraperitoneal mass in the umbilical region. It is characterized by abdominal pain, and fever if infected. It may rupture, leading to peritonitis, or it may drain through the umbilicus.


Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom.


Blockage in any part of the URETER causing obstruction of urine flow from the kidney to the URINARY BLADDER. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as HYDRONEPHROSIS and obstructive nephropathy.


A cystic dilatation of the end of a URETER as it enters into the URINARY BLADDER. It is characterized by the ballooning of the ureteral orifice into the lumen of the bladder and may obstruct urine flow.


An abnormal communication between the urethra and another organ or anatomic site.


Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males.


Partial or complete blockage in any part of the URETHRA that can lead to difficulty or inability to empty the URINARY BLADDER. It is characterized by an enlarged, often damaged, bladder with frequent urges to void.


Narrowing of any part of the URETHRA. It is characterized by decreased urinary stream and often other obstructive voiding symptoms.


Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both.


Urination at short intervals; it may result from increased urine formation, decreased bladder capacity, or lower urinary tract irritation.


Bladder incontinence
Urinary incontinence

Involuntary loss of URINE, such as leaking of urine. It is a symptom of various underlying pathological processes. Major types of incontinence include URINARY URGE INCONTINENCE and URINARY STRESS INCONTINENCE.


Involuntary discharge of URINE as a result of physical activities that increase abdominal pressure on the URINARY BLADDER without detrusor contraction or overdistended bladder. The subtypes are classified by the degree of leakage, descent and opening of the bladder neck and URETHRA without bladder contraction, and sphincter deficiency.


Abnormality of the GU system
Urogenital anomalies
Genitourinary tract malformation
Urogenital abnormalities
Genitourinary abnormality
Abnormality of the genitourinary system

Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female.


Neoplasm of the genitourinary tract
Neoplasm of the GU tract
Genitourinary tract tumors
Genitourinary tract neoplasm

Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female.


Tumors or cancer of the URINARY TRACT in either the male or the female.


A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress.


Benign uterine leiomyomas
Uterine fibroid

A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


Uterine tumor
Uterine tumour
Uterine neoplasm


Downward displacement of the UTERUS. It is classified in various degrees: in the first degree the UTERINE CERVIX is within the vaginal orifice; in the second degree the cervix is outside the orifice; in the third degree the entire uterus is outside the orifice.


A complete separation or tear in the wall of the UTERUS with or without expulsion of the FETUS. It may be due to injuries, multiple pregnancies, large fetus, previous scarring, or obstruction.


Inflammation of part or all of the uvea, the middle (vascular) tunic of the eye, and commonly involving the other tunics (sclera and cornea, and the retina). (Dorland, 27th ed)


Inflammation of the anterior uvea comprising the iris, angle structures, and the ciliary body. Manifestations of this disorder include ciliary injection, exudation into the anterior chamber, iris changes, and adhesions between the iris and lens (posterior synechiae). Intraocular pressure may be increased or reduced.


Inflammation of the pars plana, ciliary body, and adjacent structures.


Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis.


Removal of the fetus from the uterus or vagina at or near the end of pregnancy with a metal traction cup that is attached to the fetus' head. Negative pressure is applied and traction is made on a chain passed through the suction tube. (From Stedman, 26th ed & Dorland, 28th ed)


An abnormal anatomical passage that connects the VAGINA to other organs, such as the bladder (VESICOVAGINAL FISTULA) or the rectum (RECTOVAGINAL FISTULA).


Itching of the skin of the vagina, vulva, and surrounding area.


Inflammation of the vagina characterized by pain and a purulent discharge.


A condition characterized by the dilated tortuous veins of the SPERMATIC CORD with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume.


Inflammation of any one of the blood vessels, including the ARTERIES; VEINS; and rest of the vasculature system in the body.


Loss of consciousness due to a reduction in blood pressure that is associated with an increase in vagal tone and peripheral vasodilation.


Failure of the SOFT PALATE to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (ADENOIDECTOMY; CLEFT PALATE) or an incompetent PALATOPHARYNGEAL SPHINCTER. It is characterized by hypernasal speech.


Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with EDEMA and sometimes with VENOUS STASIS ULCERS at the ankle.


The formation or presence of a blood clot (THROMBUS) within a vein.


A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness (SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST.


An abnormally rapid ventricular rhythm usually in excess of 150 beats per minute. It is generated within the ventricle below the BUNDLE OF HIS, either as autonomic impulse formation or reentrant impulse conduction. Depending on the etiology, onset of ventricular tachycardia can be paroxysmal (sudden) or nonparoxysmal, its wide QRS complexes can be uniform or polymorphic, and the ventricular beating may be independent of the atrial beating (AV dissociation).


A wart in the plantar surface of the foot. It is caused by human papillomavirus.


An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (EAR, INNER); VESTIBULAR NERVE; BRAINSTEM; or CEREBRAL CORTEX. Lesions in the TEMPORAL LOBE and PARIETAL LOBE may be associated with FOCAL SEIZURES that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)


Vesicoureteric reflux
Ureteral reflux
Vesico-ureteral reflux
Vesicoureteral reflux

Retrograde flow of urine from the URINARY BLADDER into the URETER. This is often due to incompetence of the vesicoureteral valve.


An abnormal anatomical passage between the URINARY BLADDER and the VAGINA.


An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis.


Abnormal increased size of the viscera of the abdomen. [HPO:probinson]


Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).


A nutritional condition produced by a deficiency of VITAMIN A in the diet, characterized by NIGHT BLINDNESS and other ocular manifestations such as dryness of the conjunctiva and later of the cornea (XEROPHTHALMIA). Vitamin A deficiency is a very common problem worldwide, particularly in developing countries as a consequence of famine or shortages of vitamin A-rich foods. In the United States it is found among the urban poor, the elderly, alcoholics, and patients with malabsorption. (From Cecil Textbook of Medicine, 19th ed, p1179)


A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848)


Deficient in vitamin D
Vitamin D deficiency

A nutritional condition produced by a deficiency of VITAMIN D in the diet, insufficient production of vitamin D in the skin, inadequate absorption of vitamin D from the diet, or abnormal conversion of vitamin D to its bioactive metabolites. It is manifested clinically as RICKETS in children and OSTEOMALACIA in adults. (From Cecil Textbook of Medicine, 19th ed, p1406)


Low levels of vitamin E
Vitamin E deficiency

A nutritional condition produced by a deficiency of VITAMIN E in the diet, characterized by posterior column and spinocerebellar tract abnormalities, areflexia, ophthalmoplegia, and disturbances of gait, proprioception, and vibration. In premature infants vitamin E deficiency is associated with hemolytic anemia, thrombocytosis, edema, intraventricular hemorrhage, and increasing risk of retrolental fibroplasia and bronchopulmonary dysplasia. An apparent inborn error of vitamin E metabolism, named familial isolated vitamin E deficiency, has recently been identified. (Cecil Textbook of Medicine, 19th ed, p1181)


Blotchy loss of skin color
Blotchy loss of skin colour

A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached.


Congenital or acquired paralysis of one or both VOCAL CORDS. This condition is caused by defects in the CENTRAL NERVOUS SYSTEM, the VAGUS NERVE and branches of LARYNGEAL NERVES. Common symptoms are VOICE DISORDERS including HOARSENESS or APHONIA.


A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice.


Twisting of a loop of bowel that results in intestinal obstruction.


The forcible expulsion of the contents of the STOMACH through the MOUTH.


Neoplasm of the vulva
Tumor of the vulva
Tumour of the vulva


Inflammation of the VULVA and the VAGINA, characterized by discharge, burning, and PRURITUS.


Increase in BODY WEIGHT over existing weight.


A symptom and a finding during physical examination, characterized by a high-pitched, whistling sound during breathing. It results from the narrowing or obstruction of the respiratory airways. The most common causes of wheezing are asthma, chronic obstructive pulmonary disease, tracheobronchitis, and pulmonary edema.


What is whooping cough?

Whooping cough, or pertussis, is a respiratory infection that can cause coughing fits. In serious cases, the coughing can become violent and rapid. You may cough so hard that you vomit. The name of the disease comes from the whooping noise you might make when you try to breathe in after coughing.

Whooping cough is very contagious and can affect anyone. But it can be especially serious in babies who did not yet get the vaccine. About half of babies under age one who get whooping cough need care in the hospital.

What causes whooping cough?

Whooping cough is caused by a type of bacteria called Bordetella pertussis. It spreads from person to person. People who have pertussis usually spread it through coughing, sneezing, or breathing very close to someone. It can also sometimes be spread by touching an infected surface and then touching your nose or mouth.

If you get pertussis, you are contagious for about 2 weeks after you start coughing. Antibiotics may shorten the time that you are contagious.

What are the symptoms of whooping cough?

The symptoms of pertussis usually start within 5 to 10 days after you are exposed. But sometimes you may not get symptoms until up to 3 weeks later.

Whooping cough usually starts with cold-like symptoms. They may last for 1 to 2 weeks and can include

Runny nose

Mild fever

Mild, occasional cough

The early symptoms in babies can be different. They may only cough a little bit, or they may not cough at all. Babies may have apnea, which means that there is a pause in breathing. They may start to turn blue. If this happens, get medical care for your baby right away.

As whopping cough gets worse, the symptoms may include

Fits of many, rapid coughs followed by a high-pitched "whoop" sound

Vomiting during or after coughing fits

Exhaustion after coughing fits

The coughing fits get worse and start happening more often, especially at night. You may have them for up to 10 weeks or more.

Recovery from this can happen slowly. Your cough gets milder and happens less often. The coughing fits can come back if you have another respiratory infection, even months after you first got whooping cough.

How is whooping cough diagnosed?

Your health care provider may use many tools to diagnose whooping cough:

A medical history, which includes asking about your symptoms

A physical exam

A lab test which involves taking a sample of mucus from the back of the throat through the nose. This may be done with a swab or syringe filled with saline. The sample is tested for the bacteria that causes whooping cough.

Blood test

Chest x-ray

What are the treatments for whooping cough?

The treatment for whooping cough is usually antibiotics. Early treatment is very important. It may make your infection less serious and can also help prevent spreading the disease to others.

Treatment after you have been sick for 3 weeks or longer may not help. The bacteria are gone from your body by then, even though you usually still have symptoms. This is because the bacteria have already done damage to your body.

Whooping cough can sometimes be very serious and require treatment in the hospital.

Can whooping cough be prevented?

Vaccines are the best way to prevent whooping cough. There are two vaccines in the United States that can help prevent whooping cough: DTaP and Tdap. These vaccines also provide protection against tetanus and diphtheria.

Babies and other people at high risk serious disease should be kept away from people who have whooping cough.

Sometimes health care providers give antibiotics to family members of people who have had whooping cough or people who have been exposed to it. The antibiotics may prevent them from getting the disease.

You may also help prevent the spread of whooping cough (and other respiratory diseases) by

Washing your hands often with soap and water. You can use an alcohol-based hand rub if soap and water are not available.

Avoiding touching your face with unwashed hands

Cleaning and disinfecting surfaces that you frequently touch, including toys

Covering coughs and sneezes with a tissue or upper shirt sleeve, not hands

Staying home when sick

Avoiding close contact with people who are sick

Centers for Disease Control and Prevention


A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase.


A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS.


Dryness of the eye surfaces caused by deficiency of tears or conjunctival secretions. It may be associated with vitamin A deficiency, trauma, or any condition in which the eyelids do not close completely.


Reduced salivation
Dry mouth syndrome
Xerostomia
Dry mouth


A syndrome that is characterized by the triad of severe PEPTIC ULCER, hypersecretion of GASTRIC ACID, and GASTRIN-producing tumors of the PANCREAS or other tissue (GASTRINOMA). This syndrome may be sporadic or be associated with MULTIPLE ENDOCRINE NEOPLASIA TYPE 1.


Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues. [HPO:probinson]


Absent pigmentation in the eye
Albinism, Ocular

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.


Fluid-filled sac located in membrane surrounding brain or spinal cord

Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with HYDROCEPHALUS; HEADACHE; SEIZURES; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)


Constriction of the bronchi
Bronchoconstriction

Narrowing of the caliber of the BRONCHI, physiologically or as a result of pharmacological intervention.


Congenital bullous ichthyosiform erythroderma

A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.

Bullous congenital ichthyosiform erythroderma


Nonbullous congenital ichthyosiform erythroderma

Congenital nonbullous ichthyosiform erythroderma

A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate.


A childhood counterpart of abdominal or extra-abdominal desmoid tumors, characterized by firm subcutaneous nodules that grow rapidly in any part of the body but do not metastasize. The adult form of abdominal fibromatosis is FIBROMATOSIS, ABDOMINAL. (Stedman, 25th ed)


A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending. [HPO:probinson]


Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.


Congenital ichthyosis
Congenital ichthyosiform erythroderma

Designation for several severe forms of ichthyosis, present at birth, that are characterized by hyperkeratotic scaling. Infants may be born encased in a collodion membrane which begins shedding within 24 hours. This is followed in about two weeks by persistent generalized scaling. The forms include bullous (HYPERKERATOSIS, EPIDERMOLYTIC), non-bullous (ICHTHYOSIS, LAMELLAR), wet type, and dry type.


A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes.


A group of heterogeneous lymphoid tumors representing malignant transformations of T-lymphocytes.


A group of lymphomas exhibiting clonal expansion of malignant T-lymphocytes arrested at varying stages of differentiation as well as malignant infiltration of the skin. MYCOSIS FUNGOIDES; SEZARY SYNDROME; LYMPHOMATOID PAPULOSIS; and PRIMARY CUTANEOUS ANAPLASTIC LARGE CELL LYMPHOMA are the best characterized of these disorders.


A condition of abnormally low AMNIOTIC FLUID volume. Principal causes include malformations of fetal URINARY TRACT; FETAL GROWTH RETARDATION; GESTATIONAL HYPERTENSION; nicotine poisoning; and PROLONGED PREGNANCY.


Piebaldism
Partial absent skin pigmentation
Congenital partial leucoderma
Partial albinism

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.

Congenital partial albinism on face, trunk, or limbs


A common congenital midline defect of fusion of the vertebral arch without protrusion of the spinal cord or meninges. The lesion is also covered by skin. L5 and S1 are the most common vertebrae involved. The condition may be associated with an overlying area of hyperpigmented skin, a dermal sinus, or an abnormal patch of hair. The majority of individuals with this malformation are asymptomatic although there is an increased incidence of tethered cord syndrome and lumbar SPONDYLOSIS. (From Joynt, Clinical Neurology, 1992, Ch55, p34)


Incomplete closure of the vertebral arch

Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)


A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence.


Inability to empty the URINARY BLADDER with voiding (URINATION).

Increased post-void residual urine volume


A non-neoplastic or neoplastic disorder that affects the genitourinary system.


Delivery of an infant through the vagina in a female who has had a prior cesarean section.


Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART.


Corneal vascularization
Corneal neovascularization
New blood vessel formation in cornea
Corneal neovascularisation

New blood vessels originating from the corneal blood vessels and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION.


Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).


A state of elevated cardiac output due to conditions of either increased hemodynamic demand or reduced cardiac oxygen output. These conditions may include ANEMIA; ARTERIOVENOUS FISTULA; THYROTOXICOSIS; PREGNANCY; EXERCISE; FEVER; and HYPOXIA. In time, compensatory changes of the heart can lead to pathological form of high cardiac output and eventual HEART FAILURE.


An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)


Tumours of the central nervous system
Neoplasia of the central nervous system
Neoplasm of the CNS
Neoplasm of the central nervous system

Benign and malignant neoplastic processes that arise from or secondarily involve the brain, spinal cord, or meninges.


Intracytoplasmic, eosinophilic, round to elongated inclusions found in vacuoles of injured or fragmented neurons. The presence of Lewy bodies is the histological marker of the degenerative changes in LEWY BODY DISEASE and PARKINSON DISEASE but they may be seen in other neurological conditions. They are typically found in the substantia nigra and locus coeruleus but they are also seen in the basal forebrain, hypothalamic nuclei, and neocortex.


Diabetes mellitus induced by PREGNANCY but resolved at the end of pregnancy. It does not include previously diagnosed diabetics who become pregnant (PREGNANCY IN DIABETICS). Gestational diabetes usually develops in late pregnancy when insulin antagonistic hormones peaks leading to INSULIN RESISTANCE; GLUCOSE INTOLERANCE; and HYPERGLYCEMIA.


A heterogeneous group of sporadic or familial disorders characterized by AMYLOID deposits in the walls of small and medium sized blood vessels of CEREBRAL CORTEX and MENINGES. Clinical features include multiple, small lobar CEREBRAL HEMORRHAGE; cerebral ischemia (BRAIN ISCHEMIA); and CEREBRAL INFARCTION. Cerebral amyloid angiopathy is unrelated to generalized AMYLOIDOSIS. Amyloidogenic peptides in this condition are nearly always the same ones found in ALZHEIMER DISEASE. (from Kumar: Robbins and Cotran: Pathologic Basis of Disease, 7th ed., 2005)


Autoagression
Self-injurious behavior
Self-injurious behaviour
Self-injurious behaviors

Behavior in which persons hurt or harm themselves without the motive of suicide or of sexual deviation.


A phenomenon in which symptoms of a disease are fabricated by an individual other than the patient causing unnecessary, and often painful, physical examinations and treatments. This syndrome is considered a form of CHILD ABUSE, since another individual, usually a parent, is the source of the fabrication of symptoms and presents the child for medical care.


The observable, measurable, and often pathological activity of an organism that portrays its inability to overcome a habit resulting in an insatiable craving for a substance or for performing certain acts. The addictive behavior includes the emotional and physical overdependence on the object of habit in increasing amount or frequency.


Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)


A collective term for pathological conditions which are caused by the formation of a blood clot (THROMBUS) in a blood vessel, or by blocking of a blood vessel with an EMBOLUS, undissolved materials in the blood stream.


Hypocarbia
Reduced carbon dioxide in the blood

Clinical manifestation consisting of a deficiency of carbon dioxide in arterial blood.


Neurofibrillary tangles
Paired helical filaments

Abnormal structures located in various parts of the brain and composed of dense arrays of paired helical filaments (neurofilaments and microtubules). These double helical stacks of transverse subunits are twisted into left-handed ribbon-like filaments that likely incorporate the following proteins: (1) the intermediate filaments: medium- and high-molecular-weight neurofilaments; (2) the microtubule-associated proteins map-2 and tau; (3) actin; and (4) UBIQUITINS. As one of the hallmarks of ALZHEIMER DISEASE, the neurofibrillary tangles eventually occupy the whole of the cytoplasm in certain classes of cell in the neocortex, hippocampus, brain stem, and diencephalon. The number of these tangles, as seen in post mortem histology, correlates with the degree of dementia during life. Some studies suggest that tangle antigens leak into the systemic circulation both in the course of normal aging and in cases of Alzheimer disease.

Neurofibrillary tangles composed of disordered microtubules in neurons


Meningeal inflammation produced by CRYPTOCOCCUS NEOFORMANS, an encapsulated yeast that tends to infect individuals with ACQUIRED IMMUNODEFICIENCY SYNDROME and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature HEADACHE; NAUSEA; PHOTOPHOBIA; focal neurologic deficits; SEIZURES; cranial neuropathies; and HYDROCEPHALUS. (From Adams et al., Principles of Neurology, 6th ed, pp721-2)


Meningitis caused by fungal agents which may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts.


Epilepsia partialis continua of Kojevnikov

A variant of EPILEPSY characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)


Acidosis (pH less than 7.35) that develops with an increase in ionic chloride. [PMID:29493965]


Anemia in which the red blood cell volume is normal.


Decreased lung volume and inadequate ventilation due to parenchymal lung disorders (e.g., interstitial pulmonary fibrosis) or extrapulmonary disorders (e.g., scoliosis). Patients present with shortness of breath and cough.


Optic neuritis that occurs in the section of the optic nerve located behind the eyeball. [HPO:sdoelken]


Abnormal movement characterized by involuntary jerking and writhing affecting the limbs, trunk, and facial muscles.


A functional and/or structural disorder of the brain caused by diseases (e.g. liver disease, kidney disease), medications, chemicals, and injuries.


The sudden sensation of being cold. It may be accompanied by SHIVERING.


Body smell resulting from the growth of bacteria on the body.


Chronic excessive intake of water; it may be from an organic cause, such as the dehydration of diabetes mellitus, diabetes insipidus, or a reaction to medication, or from a psychological cause. When untreated it can lead to water intoxication.


Severe inability of the LIVER to perform its normal metabolic functions, as evidenced by severe JAUNDICE and abnormal serum levels of AMMONIA; BILIRUBIN; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; LACTATE DEHYDROGENASES; and albumin/globulin ratio. (Blakiston's Gould Medical Dictionary, 4th ed)


An acute and compelling urge to urinate.


A disorder characterized by an electrocardiographic finding of abnormally slow heart rate with its origin in the sinus node. Thresholds for different age, gender, and patient populations exist. (CDISC)


An electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac atria.


A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.


A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds.


A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. [DDD:dbrown, HPO:probinson]


spasm of the blood vessels resulting in decrease in their caliber.


Breathlessness in the recumbent position.


A state of restlessness associated with unpleasant feelings of irritability and tension. Causes include pain, stress, fever, alcohol and nicotine withdrawal, cocaine and hallucinogenic drugs use, depression, bipolar disorders, and schizophrenia.


Lack of emotion or emotional expression; a disorder of motivation that persists over time.


Mood alterations
Emotional lability
Mood changes
Mood lability
Emotional instability

A condition of frequent mood changes associated with excessive emotional reactions.


Perceived flashes of light. [HPO:probinson, PMID:10506812]


Extreme sensitivity of the eyes to light

Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS.


An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications. [HPO:curators]


A sudden movement downward, usually resulting in injury.


Elevated skin lesions associated with the presence of purulent material.


A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming.


Swelling due to an excessive accumulation of fluid in the upper or lower extremities.


An idiopathic, rapidly evolving, and severely debilitating disease occurring most commonly in association with chronic ulcerative colitis. It is characterized by the presence of boggy, purplish ulcers with undermined borders, appearing mostly on the legs. The majority of cases are in people between 40 and 60 years old. Its etiology is unknown.


A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet [PMID:26091664]


Separation of nail plate from the underlying nail bed. It can be a sign of skin disease, infection (such as ONYCHOMYCOSIS) or tissue injury.


A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin. [ORCID:0000-0002-4095-8489, PMID:33085427]


A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).


An abnormally increased chloride concentration in the blood. [HPO:probinson]


abnormally low level of chloride in the blood.


A condition of abnormally high level of PHOSPHATES in the blood, usually significantly above the normal range of 0.84-1.58 mmol per liter of serum.


Hypophosphataemia
Low blood phosphate level

A condition of an abnormally low level of PHOSPHATES in the blood.


Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling. [HPO:curators]


Inflammation of the stomach that is chronic in nature.


Abnormally high level of monocytes in the blood.


The severe form of Hirschsprung disease, this is characterized by a complete lack of nerve cells in the large intestine, and often a partial lack in the small intestine. The bowel is not stimulated without innervation and obstruction ensues. Surgical intervention is necessary.


Joint ligamentous laxity
Loose-jointedness
Ligamentous laxity
Joint laxity
Hyperlaxity
Lax joints


A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes.


Decreased spontaneous movement
Hypokinesia
Decreased muscle movement

Slow or diminished movement of body musculature. It may be associated with BASAL GANGLIA DISEASES; MENTAL DISORDERS; prolonged inactivity due to illness; and other conditions.


Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)


A finding that indicates abnormal liver function.


An episode of intense fear accompanied by symptoms such as heart palpitations, sweating and chills or hot flushes, a sensation of dyspnea, chest pain, abdominal distress, depersonalization, fear of going crazy, and fear of dying.


An autosomal recessive inherited disorder of mucopolysaccharide metabolism. It is the most severe form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase resulting in the accumulation of mucopolysaccharides in the tissues.


A group of predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)


Sinusitis lasting less than or equal to thirty days.


Acute inflammation and edema of the larger bronchi caused by viruses or bacteria. Signs and symptoms include cough, sputum production, shortness of breath, and wheezing.


Inflammation of the paranasal sinuses that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.


A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus.


Aortic valve has two leaflets rather than three

A congenital anomaly in which the aortic valve has two leaflets. It is associated with mutations in the NOTCH1 gene or the SMAD6 gene, encoding neurogenic locus notch homolog protein 1 and mothers against decapentaplegic homolog 6, respectively. It is a clinically heterogeneous condition, with a high incidence of aortic valve and ascending aortic complications requiring surgery.


An abnormality of the urinary bladder. [HPO:probinson]


An enlargement of the tips of the fingers or toes and a change in the angle where the nails emerge. It occurs when the amount of soft tissue beneath the nail beds increases. It may be idiopathic, hereditary, or associated with a wide range of diseases, including cardiopulmonary disorders and malignant neoplasms.


Digestive system disorder where a particular food irritates the digestive tract or cannot be properly digested (i.e., due to a lack of a digestive enzyme). It differs from FOOD HYPERSENSITIVITY which is an immune system disorder, usually due to specific proteins in food. http://my.clevelandclinic.org/health/articles/problem-foods-is-it-an-allergy-or-intolerance.


Fractured fibula
bone fibula
Broken fibula
Fracture of the fibula


Left ventricular wall hypertrophy
Left ventricular hypertrophy

Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality.


An acute or chronic, viral or bacterial infectious process that affects the lower respiratory tract.


Abnormality of the lymph nodes
Abnormal lymph node histology

A lymph node abnormality. [HPO:probinson]


A loss of mucous substance of the mouth showing local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. It is the result of a variety of causes, e.g., denture irritation, aphthous stomatitis (STOMATITIS, APHTHOUS); NOMA; necrotizing gingivitis (GINGIVITIS, NECROTIZING ULCERATIVE); TOOTHBRUSHING; and various irritants. (From Jablonski, Dictionary of Dentistry, 1992, p842)


A collection of pus in the area of the rectum. [HPO:probinson]


Herniation of the RECTUM into the VAGINA.


Any abnormality of the salivary glands, the exocrine glands that produce saliva. [HPO:probinson]


An abscess that develops in the skin and subcutaneous tissues. Causes include folliculitis, furuncle, skin injury, and bacterial infections. Signs and symptoms include the presence of a swollen, tender, and erythematous nodular lesion in the skin associated with fever and chills.


Pneumothorax occurring without traumatic injury to the chest or lung. [HPO:probinson]


A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma.


Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245)


Inflamation of the eyelid due to overactivity of the sebaceous gland. [PMID:10777824]


Hemorrhage into the parenchyma of the cerebellum. [HPO:probinson]


Deep venous thrombosis
Deep vein thrombosis
Blood clot in a deep vein

A blood clot in a deep vein, predominantly in the lower extremity, but may include the pelvis or upper extremity.


Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage. [HPO:probinson]


Simple febrile seizure
Simple fever fit
Simple febrile convulsion

A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance. [HPO:jalbers, PMID:19125841, PMID:6779259, PMID:972656]


Slipped capital femoral epiphyses
Slipped end part of innermost thighbone
Slipped capilal femoral epiphysis

A developmental deformity in which the metaphysis of the FEMUR moves proximally and anteriorly away from FEMUR HEAD (epiphysis) at the upper GROWTH PLATE. It is most common in male adolescents and is associated with a greater risk of early OSTEOARTHRITIS of the hip.


Small cell lung cancer
Oat cell lung cancer
Small cell lung carcinoma

A form of highly malignant lung cancer that is composed of small ovoid cells (SMALL CELL CARCINOMA).


A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity.


A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts.


A rare congenital abnormality in which the duodenum is surrounded by a ring of pancreatic tissue. It may result in constriction of the duodenum and feeding intolerance.


A seizure that originates in one area of the brain that affects consciousness.


Radial subluxation
Radial head subluxation

Partial dislocation of the head of the radius. [HPO:curators]


Aching sensation that persists for more than a few months. It may or may not be associated with trauma or disease, and may persist after the initial injury has healed. Its localization, character, and timing are more vague than with acute pain.


Poor social interactions
Impaired social interaction

Persistent difficulties in the social uses of verbal and nonverbal communications. (DSM-V)


Localized thickening and tightness of the skin of the fingers or toes. [HPO:probinson]


Depressions on the surface of the nail. This finding may be associated with psoriasis.


Palpable Purpura: minute bluish rash which results from extra- vasation of blood into subcutaneous tissue. By histopathology, it is a leukocytoclastic angiitis. A common manifestation of many disorders which cause small vessel inflammation.


Swelling due to an excessive accumulation of fluid around the orbits of the face.


Pain or discomfort of the scalp elicited by palpation. [HPO:probinson]


Inflammation of the cartilage of the nose. [PMID:33108101]


A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome.


Cranial nerve paralysis
Cranial nerve palsies
Cranial nerve palsy

Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.


Damage to nerves that sense feeling
Peripheral sensory neuropathy

Inflammation or degeneration of the sensory nerves.


Limited mobility of the neck, usually accompanied by pain.


Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection. []


Rheumatoid Factor: an immunoglobulin, most often of the IgM class, directed against the host's own immunoglobulin, usually an IgG. It is a non-specific marker and is present in many diseases.


Renal parenchymal abcess
Intrarenal abscess

An abscess that is located within the renal parenchyma.


A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics.


Antinuclear antibody positive
Serum antinuclear antibody
Antinuclear antibodies
Antinuclear antibody positivity

Indicates that antibodies directed against nuclear antigens have been detected.


Skin atrophy
Skin degeneration
Atrophic skin

The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging.


Developmental hypoplasia of the thyroid gland. [HPO:probinson]


Third-degree heart block
Third degree atrioventricular block

A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)


Premature delivery of affected infants
Shortened gestation time
Premature delivery
Preterm birth
Preterm delivery

Birth when a fetus is less than 37 weeks and 0 days gestational age.


Increased bleeding time
Prolonged bleeding time

Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. [DDD:mumford]


Laboratory results demonstrating an increase in the concentration of urea nitrogen in a blood sample.


A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma.


An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot. [HPO:probinson]


Muscular rigidity that is characterized by jerky incremental movements of a limb when passively moved through the range of motion of a joint. Cogwheel rigidity is often an early sign of Parkinson's disease.


Reduced corneal reflex
Decreased corneal reflex

An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids. [HPO:probinson]


Crystals in the URINE found in urinary sediment analysis. Urinary crystalline may be formed from various metabolites (e.g., CALCIUM OXALATES; CALCIUM PHOSPHATES; URATES) and drugs (e.g., SULPHADIAZINE; ACYCLOVIR; and TRIAMTERENE).


The presence of uric acid crystals in the urine. [PMID:25045326, PMID:8671802]


Abnormal CSF findings
Abnormality of the CSF

An abnormality of the cerebrospinal fluid (CSF). [HPO:probinson]


Passage of many stools containing blood. []


A condition that is characterized by the presence of generalized edema. Causes include congestive heart failure, liver failure, renal failure, and severe malnutrition.


Swelling due to an excessive accumulation of fluid in the genitals.


An abnormal accumulation of fluid and swelling in the tongue. []


Abnormal EEG
Electroencephalogram abnormal
Abnormal electroencephalogram
EEG abnormalities
Electroencephalogram abnormalities

An electroencephalogram that contains findings outside the parameters considered normal.


Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. [HPO:probinson, PMID:12624140]


A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. [PMID:10524488]

Decreased erythrocyte sedimentation rate


Increased erythrocyte sedimentation rate

An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. [PMID:10524488]


Premature ventricular beat
Premature ventricular contraction
Ventricular ectopics
Ventricular ectopy
Ventricular premature beat
Premature ventricular contractions
Extra heart beat

A type of cardiac arrhythmia with premature contractions of the HEART VENTRICLES. It is characterized by the premature QRS complex on ECG that is of abnormal shape and great duration (generally >129 msec). It is the most common form of all cardiac arrhythmias. Premature ventricular complexes have no clinical significance except in concurrence with heart diseases.


Decreased fertility in females
Reduced fertility in females


Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. [HPO:probinson, PMID:16408108]


The accumulation of fibrotic tissue in the myocardium. This may result from chronic hypertension, myocardial infarction or cardiomyopathy and eventually lead to heart failure.


Impaired glucose tolerance
Glucose tolerance decreased

An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose. [HPO:probinson]


Abnormally high level of neutrophils in the blood.


Stature that is smaller than normal as expected for age.


Decreased circulating high-density lipoprotein levels

Decreased circulating high-density lipoprotein cholesterol

An decreased concentration of high-density lipoprotein cholesterol in the blood. [HPO:gcarletti]


Bleeding within the skull
Intracranial haemorrhage


Pulmonary haemorrhage
Pulmonary hemorrhage
Intrapulmonary haemorrhage


Bleeding occuring within a muscle [PMID:27231694]


abnormally diminished amount of cholesterol in the blood.


Eunuch-like state in which the male individual has non-functional TESTES.


Lower than normal levels of magnesium in the circulating blood.


Formation of infarct resulting from obstruction of HEPATIC ARTERY and/or PORTAL VEIN most often after LIVER TRANSPLANTATION or hepatobiliary surgery.


A rupture in the wall of the small intestine due to traumatic or pathologic processes.


Intracranial pressure elevation
Intracranial hypertension
Increased intracranial pressure

Increased pressure within the cranial vault. This may result from several conditions, including HYDROCEPHALUS; BRAIN EDEMA; intracranial masses; severe systemic HYPERTENSION; PSEUDOTUMOR CEREBRI; and other disorders.


An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. []


Abnormal kidney function
Renal functional abnormality
Abnormal renal physiology
Kidney function issue
Abnormal renal function

An abnormal functionality of the kidney. [HPO:probinson]


disease of the kidney structure called tubule


Atypical results found on serum liver enzyme testing, which may indicate significant disease and/or disease progression.


A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma.


A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)


Myeloid maturation arrest in bone marrow

Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow. [PMID:23233578]


A necrotic process affecting the hepatic parenchyma.


Subcutaneous nodules
Nodule below the skin
Subcutaneous nodule
Firm lump under the skin

A small palpable mass in the subcutaneous tissues.

Growth of abnormal tissue under the skin


A platelet characterized by a structural or functional abnormality.


Cerebrospinal fluid pleocytosis
Increased leukocyte count in CSF

Abnormally high cell count in a body fluid.


Abnormally increased excretion of porphyrins in the urine. [HPO:probinson]


Prolong qt interval on ekg
Long Q-T syndrome
Prolonged QT interval

An electrocardiographic finding in which the QT interval not corrected for heart rate is prolonged. Thresholds for different age, gender, and patient populations exist. (CDISC)


Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). [HPO:probinson]


Increased deep tendon reflexes
Hyperreflexia

Autonomic nervous system overreaction to stimuli, most commonly after spinal cord injury at a T-5 level and above.


Fundus hypopigmentation
Hypopigmentation of the fundus

Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). [ORCID:0000-0003-0986-4123]


Elevated serum aspartate aminotransferase

Elevated circulating aspartate aminotransferase concentration

An increase in the level of aspartate aminotransferase in the blood.

Elevated serum glutamic oxaloacetic transaminase


Elevated serum glutamic-pyruvic transaminase

Elevated circulating alanine aminotransferase concentration

An increase in the level of alanine aminotransferase in the blood.


The pores are generally fine with a papery thin texture that feels dry to the touch. Usually flaky and dull looking.


Narrowing of the lumen of small intestine.


Tendon/muscle rupture
Ruptured tendon
Rupture of tendons

Breakage (tear) of a tendon. [HPO:probinson, PMID:27047816]


Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms. [HPO:probinson]


Formation of a blood clot in the lumen of an artery.


Cerebral venous thrombosis
Cerebral vein thrombosis
Blood clot in cerebral vein

The formation of a blood clot in a cerebral vein.


Esophageal ulceration
Esophagus ulcer
Oesophagus ulceration

An ulcerated lesion in the esophageal wall.


The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine. [Eurenomics:ewuehl, PMID:26079824]


An increase in the overall dimensions or volume of the uterus compared to normal.


An abnormality of leukocytes. [HPO:probinson]


A carcinoma originating in the lung and the most common lung cancer type in never-smokers. Malignant cells exhibit distinct features such as glandular epithelial, or tubular morphology. Mutations in KRAS, EGFR, BRAF, and ERBB2 genes are associated with this cancer.


A malignant epithelial tumor arising from the esophageal mucosa. Two major histologic types of esophageal carcinoma have been described: squamous cell carcinoma and adenocarcinoma. This type of cancer is associated with excessive ethanol and cigarette usage.


Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS.


Diseases of multiple peripheral nerves simultaneously. Polyneuropathies usually are characterized by symmetrical, bilateral distal motor and sensory impairment with a graded increase in severity distally. The pathological processes affecting peripheral nerves include degeneration of the axon, myelin or both. The various forms of polyneuropathy are categorized by the type of nerve affected (e.g., sensory, motor, or autonomic), by the distribution of nerve injury (e.g., distal vs. proximal), by nerve component primarily affected (e.g., demyelinating vs. axonal), by etiology, or by pattern of inheritance.


Inflammation of the retinal vasculature with various causes including infectious disease; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; BEHCET SYNDROME; and CHORIORETINITIS.


A condition caused by underdevelopment of the whole left half of the heart. It is characterized by hypoplasia of the left cardiac chambers (HEART ATRIUM; HEART VENTRICLE), the AORTA, the AORTIC VALVE, and the MITRAL VALVE. Severe symptoms appear in early infancy when DUCTUS ARTERIOSUS closes.


A rare movement disorder of unknown etiology, characterized by painful, involuntary turns of the head to the right, left, upwards, or downwards.


Degenerative changes to the RETINA due to HYPERTENSION.


An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule. [HPO:probinson, PMID:1344079, PMID:21687160, PMID:25145891]


Lack of production or secretion of breast milk.


A disorder characterized by an electrocardiographic finding of a high ventricular rate (180 to 250 beats per minute) with a regular rhythm and large oscillating sine wave-like complexes occurring as a result of QRS complexes and T waves being merged. The P wave is not visible.


An area of depressed vision located at the point of fixation and that interferes with central vision. [HPO:probinson]


A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision. []


Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing. []


Esotropia in which either eye may be used for fixation. [ORCID:0000-0003-0986-4123]


A type of exotropia in which either eye may be used for fixation. [ORCID:0000-0003-0986-4123]


Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye.


A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia). [ORCID:0000-0003-0986-4123]


A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters. []


A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia. []


A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation. [ORCID:0000-0003-0986-4123]


A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards. [ORCID:0000-0003-0986-4123]


An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them. [ORCID:0000-0003-0986-4123]


Watery eyes
Increased tears
Epiphora
Increased lacrimation


A rare neural tube defect characterized by extreme retroflexion of the head and severe defects of the spine. It is usually associated with other congenital anomalies.


Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot. [HPO:probinson]


Progressive acquired flatfoot in which the arch of the foot is flat only when standing. It is often caused by POSTERIOR TIBIAL TENDON DYSFUNCTION.


A congenital duplication of the UTERUS in which a septem is formed separating the uterus. The partitioning septum can also separate the CERVIX and VAGINA.


Fibrous blood-filled cyst in the bone. Although benign it can be destructive causing deformity and fractures.


Anterior synechiae
Iridocorneal synechia
Cornea-iris adhesion

Adhesions between the iris and the cornea. [DDD:ncarter]

Anterior synechiae of the anterior chamber


Posterior synechiae of the anterior chamber

Adhesions between the iris and the lens. [DDD:ncarter]


A yellowish thickened lesion on the conjunctiva near the CORNEA representing a benign degenerative change in the CONJUNCTIVA caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the LIMBUS.


A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth.


A rare congenital cardiovascular disorder characterized by the presence of a gap between the ascending and descending portions of the thoracic aorta. This disorder is often associated with ventricular septal defect, ductus arteriosus, or truncus arteriosus.


Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). [PMID:19152421]


The absence of the lens of the eye that is present at the time of birth.


Hypoplastic pinna
Hypoplasia of the external ear
Hypoplastic ears
Underdeveloped ears
Microtia
Bilateral microtia
Small ears

Underdevelopment of the external ear. [HPO:probinson, PMID:19152421, PMID:3270622]


An umbrella term used to describe several very different complex congenital heart defects that share the same problem: the heart has only one functional ventricle (anatomically right or left or indeterminate) supplying the systemic circulation. These defects include tricuspid atresia, hypoplastic left or right heart syndrome, double outlet right ventricle, double inlet left ventricle, and other forms of single ventricle defects.


A rare and severe form of neural tube defect in which there are open cranial and open spinal defects at birth.


More than five fingers or toes on hands or feet

A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.


A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina. [PMID:24822139]


Congenital, upward displacement of the scapula

A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). [HPO:probinson]


A vitreoretinal dystrophy characterized by splitting of the neuroretinal layers. It occurs in two forms: degenerative retinoschisis and X chromosome-linked juvenile retinoschisis.


An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. [HPO:probinson, PMID:12362035]


A pouch or sac-like protrusion in the urethra.


Abnormal widening of the central spinal canal.


Eyelid adhesion to globe of eye
Symblepharon

A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. [GOC:MG, http://en.wikipedia.org/wiki/Symblepharon]


Fleischer-Kayser ring
Kayser-Fleischer ring
Fleischer's ring

Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea. [HPO:SKOEHLER]


An abnormal white reflection from the pupil rather than the usual black reflection. [HPO:probinson]


Striae
Striae distensae
Striae cutis distensae
Striae atrophicae
Purplish striae

Parallel red lines of stretched skin which eventually become whitish. Pregnancy, weight gain and corticosteroids usage are predisposing conditions.


Osteomyelitis caused by infection with the bacteria, salmonella. [PMID:26668420]


A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges. [PMID:27927853]


Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix.


A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma.


A primary or metastatic malignant tumor involving the ureter. The majority are carcinomas.


Thyrotoxicosis with toxic single thyroid nodule


Thyrotoxicosis with toxic multinodular goitre

Thyrotoxicosis with toxic multinodular goiter


Thyrotoxicosis from ectopic thyroid tissue


Portal hypertension without known risk factors for hypertension, e.g., HEPATIC CIRRHOSIS and SCHISTOSOMIASIS. Idiopathic Noncirrhotic Portal Hypertension is most often associated with pathology in the PORTAL SYSTEM vasculature.

Idiopathic non-cirrhotic portal hypertension


Neuroaxonal degeneration in the brain
Degeneration of cerebrum
Brain degeneration

result of genetic metabolic defects or damage by exogenous or endogenous toxins; characterized by cerebral cortex atrophy and progressive cerebral demyelination; dementia and mental deterioration are common.


A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument. [HPO:probinson]


Anterior horn cell disease
Abnormal anterior horn cell morphology
Anomaly of the anterior horn cells

Any anomaly of the anterior horn cell. [HPO:probinson]


A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body.


A migraine disorder characterized by episodes that are preceded by focal neurological symptoms.


Retinal detachment secondary to fluid accumulation under the neurosensory retina without a retinal tear or break.


Retinal detachment secondary to vasoproliferative changes in the retina and/or vitreous.


A group of rare, idiopathic, congenital retinal vascular anomalies affecting the retinal capillaries. It is characterized by dilation and tortuosity of retinal vessels and formation of multiple aneurysms, with different degrees of leakage and exudates emanating from the blood vessels.


A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells. [ORCID:0000-0002-6601-2165, PMID:23371018, PMID:24425852]


Dilatation of small blood vessels of the retina. [HPO:probinson]


A form of macular degeneration characterized by the presence of multiple cysts in the macula. [HPO:probinson]


Iris neovascularization
New blood vessel formation in iris
Neovascularization of the iris

New growth of vessels on the surface of the iris. [DDD:ncarter]


Reduced iris pigmentation
Iris hypopigmentation
Light eye colour

An abnormal reduction in the amount of pigmentation of the iris. [HPO:probinson]


Abnormal pupillary morphology
Pupillary abnormalities
Pupillary abnormality
Abnormal pupil morphology

An abnormality of the pupil. [HPO:probinson]


Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual. [HPO:probinson, PMID:17030721]


Dyschromatopsia with red-green confusion

Difficulty with discriminating red and green hues. [DDD:gblack]


Dyschromatopsia, blue-yellow
Blue-yellow dyschromatopsia
Tritanomaly
Blue yellow color blindness

Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment. [HPO:probinson]


Superficial vascularization of the cornea with infiltration of granulation tissue; an inflammatory exudate overlying the lining layer of synovial cells on the inside of a joint.


Reduced transparency of the peripheral region of the cornea. [HPO:probinson]


Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea. [HPO:probinson]


Recurrent breakdown of clear protective layer of eye

The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations. [HPO:curators]


Calcific band keratopathy
Band keratopathy

The deposition of calcium on the cornea, resulting in pain and decreased visual acuity.


The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea. [HPO:curators]


An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle. [ORCID:0000-0003-0986-4123]


A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe. [ORCID:0000-0003-0986-4123]


Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid. [ORCID:0000-0003-0986-4123]


An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring. [ORCID:0000-0003-0986-4123]


Inability to close eyelids completely due to facial nerve paralysis (e.g., Bell's Palsy).


Inability to close the eyelids due to scarring

Inability to close eyelids completely secondary to trauma.


Fatty deposits on eyelids
Xanthelasma palpebrarum
Xanthelasma
Fatty deposits in skin around the eyes
Xanthoma of eyelid

A condition characterized by the formation of fatty deposits under the skin in the area of the eyelids. These well-demarcated growths, more common in women than men and sometimes hereditary, may indicate elevated cholesterol levels in the blood or the fatty degeneration of the superficial fibers of the orbicularis muscle.


Localized swelling of the eyelid due to blockage of the meibomian glands, usually caused by inflammation.


A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction.


Punctal stenosis
Lacrimal punctum stenosis

Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded. [PMID:22848141]


Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium). [HPO:probinson]


Optic nerve coloboma
Optic disc coloboma
Optic disk coloboma

A cleft of the optic nerve that extends inferiorly. [HPO:probinson, PMID:16219745]


Apparent optic disc swelling in the absence of increased intracranial pressure. [HPO:probinson]


A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex. [ORCID:0000-0003-0986-4123]


Total internal and external ophthalmoplegia

Paralysis of both the extrinsic and intrinsic ocular muscles. [HPO:probinson]


An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result. [ORCID:0000-0003-0986-4123, PMID:28841851]


A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. [HPO:probinson, PMID:22454726]


A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. [HPO:probinson, PMID:25376120]


Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components. [HPO:curators]


A benign bony growth projecting outward from a bone surface within the external auditory canal. [HPO:probinson]

Exostosis of the external auditory canal


Mixed hearing impairment
Hearing loss, mixed

Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear.