Dilatation of the COLON, often to alarming dimensions. There are various types of megacolon including congenital megacolon in HIRSCHSPRUNG DISEASE, idiopathic megacolon in CONSTIPATION, and TOXIC MEGACOLON.


A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)


A congenital abnormality characterized by the presence of an increased population of non-proliferating hyperpigmented melanocytes in the sclera, iris, ciliary body, choroid, and orbit. Patients present with hyperchromic heterochromia.


Symmetrical patches of tan or brown discoloration on the skin of the face that darken with sun exposure.


The black, tarry, foul-smelling FECES that contain degraded blood.


A relatively common neoplasm of the CENTRAL NERVOUS SYSTEM that arises from arachnoidal cells. The majority are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Meningiomas have a predilection to arise from the parasagittal region, cerebral convexity, sphenoidal ridge, olfactory groove, and SPINAL CANAL. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2056-7)


A condition characterized by neck stiffness, headache, and other symptoms suggestive of meningeal irritation, but without actual inflammation of the meninges (MENINGITIS). Spinal fluid pressure may be elevated but spinal fluid is normal. (DeJong, The Neurologic Examination, 4th ed, p673)


Inflammation of the coverings of the brain and/or spinal cord, which consist of the PIA MATER; ARACHNOID; and DURA MATER. Infections (viral, bacterial, and fungal) are the most common causes of this condition, but subarachnoid hemorrhage (HEMORRHAGES, SUBARACHNOID), chemical irritation (chemical MENINGITIS), granulomatous conditions, neoplastic conditions (CARCINOMATOUS MENINGITIS), and other inflammatory conditions may produce this syndrome. (From Joynt, Clinical Neurology, 1994, Ch24, p6)


Protrusion of the meninges through a defect of the skull or vertebral column. [HPO:sdoelken, PMID:32965845]


Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with the ARNOLD-CHIARI MALFORMATION and HYDROCEPHALUS. (From Joynt, Clinical Neurology, 1992, Ch55, pp35-6)


Climacterium praecox
Menopause praecox
Early menopause
Premature ovarian failure
Hypergonadotropic amenorrhea
Premature ovarian insufficiency
Primary ovarian insufficiency

The premature cessation of menses (MENSTRUATION) when the last menstrual period occurs in a woman under the age of 40. It is due to the depletion of OVARIAN FOLLICLES. Premature MENOPAUSE can be caused by diseases; OVARIECTOMY; RADIATION; chemicals; and chromosomal abnormalities.


Abnormally heavy bleeding during menstruation

Excessive uterine bleeding during MENSTRUATION.


A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18.


A rare intra-abdominal tumor in the MESENTERY. Mesenteric cysts are usually benign and can be very large fluid-filled (2000 mL) lesions.


The presence of methemoglobin in the blood, resulting in cyanosis. A small amount of methemoglobin is present in the blood normally, but injury or toxic agents convert a larger proportion of hemoglobin into methemoglobin, which does not function reversibly as an oxygen carrier. Methemoglobinemia may be due to a defect in the enzyme NADH methemoglobin reductase (an autosomal recessive trait) or to an abnormality in hemoglobin M (an autosomal dominant trait). (Dorland, 27th ed)


Abnormal uterus bleeding
Metrorrhagia
Intermenstrual bleeding

Abnormal uterine bleeding that is not related to MENSTRUATION, usually in females without regular MENSTRUAL CYCLE. The irregular and unpredictable bleeding usually comes from a dysfunctional ENDOMETRIUM.


Lingual hypoplasia
Abnormally small tongue
Rudimentary tongue
Small tongue
Microglossia
Underdevelopment of the tongue
Hypoplasia of the tongue
Hypoglossia
Hypoplastic tongue

Decreased length and width of the tongue. [PMID:19125428]


Lower jaw retrusion
Mandibular retrognathia
Hypotrophic lower jaw
Mandibular deficiency
Deficiency of lower jaw
Mandibular micrognathia
Mandibular hypoplasia
Little mandible
Small lower jaw
Small mandible
Little lower jaw
Robin mandible
Hypoplasia of mandible
Micrognathia
Underdevelopment of mandible
Lower jaw deficiency
Decreased size of lower jaw
Underdevelopment of lower jaw
Mandibular retrusion
Micrognathia of lower jaw
Small jaw
Hypoplasia of lower jaw
Hypoplastic mandible
Decreased size of mandible
Hypotrophic mandible
Severe hypoplasia of mandible
Lower jaw hypoplasia


The presence of abnormally small extremities. [HPO:probinson]


Congenital or developmental anomaly in which the eyeballs are abnormally small.


Small oral aperture
Microstomia
Small mouth

A congenital defect in which the mouth is unusually small. (Dorland, 27th ed)


Mild and nonprogressive mental retardation

Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. [HPO:probinson]


Pupillary constriction. This may result from congenital absence of the dilatator pupillary muscle, defective sympathetic innervation, or irritation of the CONJUNCTIVA or CORNEA.


An increase in MITOCHONDRIAL VOLUME due to an influx of fluid; it occurs in hypotonic solutions due to osmotic pressure and in isotonic solutions as a result of altered permeability of the membranes of respiring mitochondria.


Mitral valve insufficiency
Mitral incompetence
Mitral insufficiency
Mitral valve regurgitation

Backflow of blood from the LEFT VENTRICLE into the LEFT ATRIUM due to imperfect closure of the MITRAL VALVE. This can lead to mitral valve regurgitation.


Abnormal protrusion or billowing of one or both of the leaflets of MITRAL VALVE into the LEFT ATRIUM during SYSTOLE. This allows the backflow of blood into left atrium leading to MITRAL VALVE INSUFFICIENCY; SYSTOLIC MURMURS; or CARDIAC ARRHYTHMIA.


Narrowing of the passage through the MITRAL VALVE due to FIBROSIS, and CALCINOSIS in the leaflets and chordal areas. This elevates the left atrial pressure which, in turn, raises pulmonary venous and capillary pressure leading to bouts of DYSPNEA and TACHYCARDIA during physical exertion. RHEUMATIC FEVER is its primary cause.


IQ between 34 and 49
Moderate mental retardation
Mental retardation, moderate
Moderate mental deficiency

Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49. [HPO:curators]


A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (MOLLUSCUM CONTAGIOSUM VIRUS). (Dorland, 27th ed)


Congenital absence of or defects in structures of the mouth.


Mouth tumor
Neoplasm of the mouth
Neoplasm of the oral cavity
Tumor of oral cavity
Tumour of oral cavity
Mouth neoplasm
Mouth tumour


Abnormality of movement
Unusual movement

Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.


A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs include waddling gait and pain at onset, and moderate short stature. Some forms are mainly limited to the femoral epiphyses, while several other syndromes are characterized by the association of multiple epiphyseal dysplasia with other clinical manifestations such as myopia, deafness and facial dysmorphism. Diagnosis relies on identification of the radiological features.


A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY.


Hypertonia
Hypertonicity
Muscle hypertonia

Abnormal increase in skeletal or smooth muscle tone. Skeletal muscle hypertonicity may be associated with PYRAMIDAL TRACT lesions or BASAL GANGLIA DISEASES.


Muscle hypotonia
Low or weak muscle tone
Low muscle tone
Muscular hypotonia

A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.


Continuous involuntary sustained muscle contraction which is often a manifestation of BASAL GANGLIA DISEASES. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from MUSCLE SPASTICITY. (From Adams et al., Principles of Neurology, 6th ed, p73)


Involuntary muscle stiffness, contraction, or spasm

A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)


Spinal muscle wasting
Spinal muscle degeneration

A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)


Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.


A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.


The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with BRAIN DISEASES or MENTAL DISORDERS. Organic mutism may be associated with damage to the FRONTAL LOBE; BRAIN STEM; THALAMUS; and CEREBELLUM. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis. (From Fortschr Neurol Psychiatr 1994; 62(9):337-44)


Dilation of pupils to greater than 6 mm combined with failure of the pupils to constrict when stimulated with light. This condition may occur due to injury of the pupillary fibers in the oculomotor nerve, in acute angle-closure glaucoma, and in ADIE SYNDROME.


Inflammation of the spinal cord. Relatively common etiologies include infections; AUTOIMMUNE DISEASES; SPINAL CORD; and ischemia (see also SPINAL CORD VASCULAR DISEASES). Clinical features generally include weakness, sensory loss, localized pain, incontinence, and other signs of autonomic dysfunction.


A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003


Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE.


NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION).


Inflammatory processes of the muscular walls of the heart (MYOCARDIUM) which result in injury to the cardiac muscle cells (MYOCYTES, CARDIAC). Manifestations range from subclinical to sudden death (DEATH, SUDDEN). Myocarditis in association with cardiac dysfunction is classified as inflammatory CARDIOMYOPATHY usually caused by INFECTION, autoimmune diseases, or responses to toxic substances. Myocarditis is also a common cause of DILATED CARDIOMYOPATHY and other cardiomyopathies.


Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3).


The presence of MYOGLOBIN in URINE usually as a result of rhabdomyolysis.


A benign neoplasm of muscular tissue. (Stedman, 25th ed)


Near sightedness
Myopia
Close sighted
Near sighted

A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness.


Inflammation of a muscle or muscle tissue.


Common form of habitual body manipulation which is an expression of tension.


Diseases of the nail plate and tissues surrounding it. The concept is limited to primates.


Excessive lateral nail growth into the nail fold. Because the lateral margin of the nail acts as a foreign body, inflammation and granulation may result. It is caused by improperly fitting shoes and by improper trimming of the nail.


A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7)


The blockage of the nasal passage due to mucosal edema. It is usually the result of a viral infection or an allergic reaction.


Obstruction of nose
Blockage of nose
Nasal obstruction

Any hindrance to the passage of air into and out of the nose. The obstruction may be unilateral or bilateral, and may involve any part of the NASAL CAVITY.


Nasal polyposis
Nasal polyps
Polyposis nasi

Focal accumulations of EDEMA fluid in the NASAL MUCOSA accompanied by HYPERPLASIA of the associated submucosal connective tissue. Polyps may be NEOPLASMS, foci of INFLAMMATION, degenerative lesions, or malformations.


Neoplasm of the nasopharynx
Tumour of the nasopharynx
Nasopharyngeal neoplasm
Tumor of the nasopharynx


Teeth present at birth
Natal tooth
Natal teeth
Neonatal teeth

Predeciduous teeth present at birth. They may be well formed and normal or may represent hornified epithelial structures without roots. They are found on the gingivae over the crest of the ridge and arise from accessory buds of the dental lamina ahead of the deciduous buds or from buds of the accessory dental lamina. (From Jablonski, Dictionary of Dentistry, 1992)


An unpleasant sensation in the stomach usually accompanied by the urge to vomit. Common causes are early pregnancy, sea and motion sickness, emotional stress, intense pain, food poisoning, and various enteroviruses.


Expelling the contents of the stomach and the sensations associated with it. They are symptoms of an underlying disease or condition and not a specific illness.


Death of bone due to decreased blood supply

Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure.


Hepatitis developing during the neonatal period.


Oncological abnormality
Neoplasia
Tumour
Neoplasm
Tumor

New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.


Embryonal tumors
Embryonal tumours
Embryonal neoplasia

A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, ependymoblastoma, pineoblastoma, and Wilms tumor are representative embryonal neoplasms.


Neoplasms composed of nerve tissue. This concept does not refer to neoplasms located in the nervous system or its component nerves.


Wilm's tumor
Nephroblastoma
Wilms tumor
Wilm's tumour

An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix.


A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY.


Scarring of kidney arteries
Thickening of kidney artiries

Hardening of the KIDNEY due to infiltration by fibrous connective tissue (FIBROSIS), usually caused by renovascular diseases or chronic HYPERTENSION. Nephrosclerosis leads to renal ISCHEMIA.


Minimal change nephropathy
Minimal change glomerulonephritis

A kidney disease with no or minimal histological glomerular changes on light microscopy and with no immune deposits. It is characterized by lipid accumulation in the epithelial cells of KIDNEY TUBULES and in the URINE. Patients usually show NEPHROTIC SYNDROME indicating the presence of PROTEINURIA with accompanying EDEMA.


A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.


Neurodegeneration
Ongoing loss of nerve cells

Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways.


Tumour of the nervous system
Tumor of the nervous system
Neoplasm of the nervous system
Nervous system cancer

Benign and malignant neoplastic processes arising from or involving components of the central, peripheral, and autonomic nervous systems, cranial nerves, and meninges. Included in this category are primary and metastatic nervous system neoplasms.


Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy generally occurring between days 18-29 of gestation. Ectodermal and mesodermal malformations (mainly involving the skull and vertebrae) may occur as a result of defects of neural tube closure. (From Joynt, Clinical Neurology, 1992, Ch55, pp31-41)


Intense or aching pain that occurs along the course or distribution of a peripheral or cranial nerve.


The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium. [PMID:20890417, UToronto:chum]


Schwannoma
Neurolemmoma
Schwann cell tumour
Schwann cell tumor
Neurinoma
Neurilemmoma

A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5)


A general term indicating inflammation of a peripheral or cranial nerve. Clinical manifestation may include PAIN; PARESTHESIAS; PARESIS; or HYPESTHESIA.


A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)


A tumor made up of nerve cells and nerve fibers. (Dorland, 27th ed)


Vestibular neurolemmoma
Acoustic Neuroma
Vestibular neurinoma
Vestibular schwannoma
Vestibular neurilemmoma
Vestibular Schwann cell tumour

A benign SCHWANNOMA of the eighth cranial nerve (VESTIBULOCOCHLEAR NERVE), mostly arising from the vestibular branch (VESTIBULAR NERVE) during the fifth or sixth decade of life. Clinical manifestations include HEARING LOSS; HEADACHE; VERTIGO; TINNITUS; and FACIAL PAIN. Bilateral acoustic neuromas are associated with NEUROFIBROMATOSIS 2. (From Adams et al., Principles of Neurology, 6th ed, p673)


A circumscribed stable malformation of the skin and occasionally of the oral mucosa, which is not due to external causes and therefore presumed to be of hereditary origin.


A macular lesion on the side of the FACE, involving the CONJUNCTIVA and EYELIDS, as well as the adjacent facial skin, SCLERA; OCULOMOTOR MUSCLES; and PERIOSTEUM. Histological features vary from those of a MONGOLIAN SPOT to those of a BLUE NEVUS.


Nevocellular nevi
Pigmented naevi
Melanocytic naevus
Pigmented nevi
Melanocytic nevi
Beauty mark
Naevi

A nevus containing melanin. The term is usually restricted to nevocytic nevi (round or oval collections of melanin-containing nevus cells occurring at the dermoepidermal junction of the skin or in the dermis proper) or moles, but may be applied to other pigmented nevi.


Physical and psychological dependence on nicotine.


Poor night vision
Night-blindness
Night blindness

Failure or imperfection of vision at night or in dim light, with good vision only on bright days. (Dorland, 27th ed)


Perspiration experienced nocturnally that is unrelated to environmental temperature.


Tumour of the nose
Tumor of the nose
Nasal neoplasm
Nasal tumour
Neoplasia of the nose
Neoplasm of the nose


Frequent URINATION at night that interrupts sleep. It is often associated with outflow obstruction, DIABETES MELLITUS, or bladder inflammation (CYSTITIS).


Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)

Involuntary, rapid, rhythmic eye movements


A status with BODY WEIGHT that is grossly above the recommended standards, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).


Obsessive-compulsive disorder
Obsessive compulsive disorder

An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension.


The yellowish discoloration of connective tissue due to deposition of HOMOGENTISIC ACID (a brown-black pigment). This is due to defects in the metabolism of PHENYLALANINE and TYROSINE. Ochronosis occurs in ALKAPTONURIA, but has also been associated with exposure to certain chemicals (e.g., PHENOL, trinitrophenol, BENZENE DERIVATIVES).


Abnormally low intraocular pressure often related to chronic inflammation (uveitis).


Diseases of the oculomotor nerve or nucleus that result in weakness or paralysis of the superior rectus, inferior rectus, medial rectus, inferior oblique, or levator palpebrae muscles, or impaired parasympathetic innervation to the pupil. With a complete oculomotor palsy, the eyelid will be paralyzed, the eye will be in an abducted and inferior position, and the pupil will be markedly dilated. Commonly associated conditions include neoplasms, CRANIOCEREBRAL TRAUMA, ischemia (especially in association with DIABETES MELLITUS), and aneurysmal compression. (From Adams et al., Principles of Neurology, 6th ed, p270)


Neoplasms produced from tooth-forming tissues.


A mixed tumor of odontogenic origin, in which both the epithelial and mesenchymal cells exhibit complete differentiation, resulting in the formation of tooth structures. (Jablonski, Illustrated Dictionary of Dentistry, 1982)


A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)


A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen.


Decreased URINE output that is below the normal range. Oliguria can be defined as urine output of less than or equal to 0.5 or 1 ml/kg/hr depending on the age.


A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)


Inflammation of the OVARY, generally caused by an ascending infection of organisms from the endocervix.


Eye muscle paralysis
Paralysis of extraocular eye movement

Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles.


An infection caused by an organism which becomes pathogenic under certain conditions, e.g., during immunosuppression.


A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors.


Optic nerve atrophy
Optic-nerve degeneration

Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.


Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated INTRACRANIAL HYPERTENSION) and visual field deficits. Drusen may also occur in the retina (see RETINAL DRUSEN). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)


optic nerve abnormalities
Optic nerve issue

Abnormality of the optic nerve. [HPO:probinson]


Inflammation of the optic nerve. Commonly associated conditions include autoimmune disorders such as MULTIPLE SCLEROSIS, infections, and granulomatous diseases. Clinical features include retro-orbital pain that is aggravated by eye movement, loss of color vision, and contrast sensitivity that may progress to severe visual loss, an afferent pupillary defect (Marcus-Gunn pupil), and in some instances optic disc hyperemia and swelling. Inflammation may occur in the portion of the nerve within the globe (neuropapillitis or anterior optic neuritis) or the portion behind the globe (retrobulbar neuritis or posterior optic neuritis).


Bleeding from the blood vessels of the mouth, which may occur as a result of injuries to the mouth, accidents in oral surgery, or diseases of the gums.


Fractures of the bones in the orbit, which include parts of the frontal, ethmoidal, lacrimal, and sphenoid bones and the maxilla and zygoma.


Inflammation of a TESTIS. It has many features of EPIDIDYMITIS, such as swollen SCROTUM; PAIN; PYURIA; and FEVER. It is usually related to infections in the URINARY TRACT, which likely spread to the EPIDIDYMIS and then the TESTIS through either the VAS DEFERENS or the lymphatics of the SPERMATIC CORD.


Osteochondrosis of the growth plate near the tibial tuberosity.


Heterotopic ossification
Ectopic bone formation

The development of bony substance in normally soft structures.


A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry.


A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans.


Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion.


A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue. It occurs frequently in the spine of young persons. (From Dorland, 27th ed; Stedman, 25th ed)


A type of osteochondritis in which articular cartilage and associated bone becomes partially or totally detached to form joint loose bodies. Affects mainly the knee, ankle, and elbow joints.


A cartilage-capped benign tumor that often appears as a stalk on the surface of bone. It is probably a developmental malformation rather than a true neoplasm and is usually found in the metaphysis of the distal femur, proximal tibia, or proximal humerus. Osteochondroma is the most common of benign bone tumors.


Any of a group of bone disorders involving one or more ossification centers (EPIPHYSES). It is characterized by degeneration or NECROSIS followed by revascularization and reossification. Osteochondrosis often occurs in children causing varying degrees of discomfort or pain. There are many eponymic types for specific affected areas, such as tarsal navicular (Kohler disease) and tibial tuberosity (Osgood-Schlatter disease).


A benign tumor composed of bone tissue or a hard tumor of bonelike structure developing on a bone (homoplastic osteoma) or on other structures (heteroplastic osteoma). (From Dorland, 27th ed)


A benign osteoblastic tumor with central vascularized nidus surrounded by normal reactive bone. It occurs especially in second decade of life most commonly in the femoral neck but can occur in any bone and any site within a bone.


A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003


INFLAMMATION of the bone as a result of infection. It may be caused by a variety of infectious agents, especially pyogenic (PUS - producing) BACTERIA.


Death of a bone or part of a bone, either atraumatic or posttraumatic.


Osteopenia
Generalized osteopenia
Generalised osteopenia

Decreased calcification or density of bone tissue.


Marble bone disease
Harder, denser, fracture-prone bones

Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY).


An asymptomatic, autosomal dominant trait in which pea-sized sclerotic spots, prominent in the metaphyseal area, are accompanied by unique cutaneous lesions. These are yellowish papules or plaques with increased elastin content. (From Cecil Textbook of Medicine, 19th ed, pp1434-35)


Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis.


A sarcoma originating in bone-forming cells, affecting the ends of long bones. It is the most common and most malignant of sarcomas of the bones, and occurs chiefly among 10- to 25-year-old youths. (From Stedman, 25th ed)


Increased bone mineral density
Osteosclerosis of bones
Osteosclerosis

An abnormal hardening or increased density of bone tissue.


Inflammation of the OUTER EAR including the external EAR CANAL, cartilages of the auricle (EAR CARTILAGE), and the TYMPANIC MEMBRANE.


Inflammation of the MIDDLE EAR including the AUDITORY OSSICLES and the EUSTACHIAN TUBE.


Inflammation of the middle ear with a clear pale yellow-colored transudate.


Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs.


Cystic abnormalities of the ovaries
Ovarian cyst
Ovarian cystic abnormality

General term for CYSTS and cystic diseases of the OVARY.


Premature closing of the lambdoid and coronal sutures.


An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS.


Painful sensation in the upper or lower extremities.


Palatal myoclonus is characterized by myoclonic (rhythmic involuntary jerky) movements of the soft palate. [HPO:probinson]


Tumors or cancer of the PALATE, including those of the hard palate, soft palate and UVULA.


A clinical manifestation consisting of an unnatural paleness of the skin.


Palmoplantar pustulosis
Palmoplantar pustules
Pustulosis of palms and soles

A chronic inflammatory disorder that generally occurs in adulthood and is characterized by sterile pustules intermingled with scaly erythemas, vesicles and hyperkeratosis occurring at distinct sites on the palms and soles. It is thought to be an autoimmune disorder precipitated by several factors, including local infection, and smoking.


An unpleasant sensation of irregular and/or forceful beating of the heart.


A true cyst of the PANCREAS, distinguished from the much more common PANCREATIC PSEUDOCYST by possessing a lining of mucous EPITHELIUM. Pancreatic cysts are categorized as congenital, retention, neoplastic, parasitic, enterogenous, or dermoid. Congenital cysts occur more frequently as solitary cysts but may be multiple. Retention cysts are gross enlargements of PANCREATIC DUCTS secondary to ductal obstruction. (From Bockus Gastroenterology, 4th ed, p4145)


Abnormal passage communicating with the PANCREAS.


Neoplasm of the pancreas
Pancreatic tumor
Neoplasia of the pancreas

Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA).


Cyst-like space not lined by EPITHELIUM and contained within the PANCREAS. Pancreatic pseudocysts account for most of the cystic collections in the pancreas and are often associated with chronic PANCREATITIS.


INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis.


Deficiency of all three cell elements of the blood, erythrocytes, leukocytes and platelets.


Panniculitis
Inflammation of adipose tissue

General term for inflammation of adipose tissue, usually of the skin, characterized by reddened subcutaneous nodules.


Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved.


Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)


A circumscribed benign epithelial tumor projecting from the surrounding surface; more precisely, a benign epithelial neoplasm consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic cells. (Stedman, 25th ed)


A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion, such as the carotid body, or medulla of the adrenal gland (usually called a chromaffinoma or pheochromocytoma). It is more common in women than in men. (Stedman, 25th ed; from Segen, Dictionary of Modern Medicine, 1992)


Persistence of the nuclei of the keratinocytes into the stratum corneum of the skin. This is a normal state only in the epithelium of true mucous membranes in the mouth and vagina. (Dorland, 27th ed)


An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction.


Diseases affecting or involving the PARANASAL SINUSES and generally manifesting as inflammation, abscesses, cysts, or tumors.


Tumour of the paranasal sinuses
Neoplasm of the paranasal sinuses
Paranasal sinus neoplasm

Tumors or cancer of the PARANASAL SINUSES.


A condition in which the FORESKIN, once retracted, cannot return to its original position. If this condition persists, it can lead to painful constriction of GLANS PENIS, swelling, and impaired blood flow to the penis.


Severe or complete loss of motor function in the lower extremities and lower portions of the trunk. This condition is most often associated with SPINAL CORD DISEASES, although BRAIN DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; and MUSCULAR DISEASES may also cause bilateral leg weakness.


A group of related diseases characterized by an unbalanced or disproportionate proliferation of immunoglobulin-producing cells, usually from a single clone. These cells frequently secrete a structurally homogeneous immunoglobulin (M-component) and/or an abnormal immunoglobulin.


Movements or behaviors associated with sleep, sleep stages, or partial arousals from sleep that may impair sleep maintenance. Parasomnias are generally divided into four groups: arousal disorders, sleep-wake transition disorders, parasomnias of REM sleep, and nonspecific parasomnias. (From Thorpy, Sleep Disorders Medicine, 1994, p191)


Pathological processes of the PARATHYROID GLANDS. They usually manifest as hypersecretion or hyposecretion of PARATHYROID HORMONE that regulates the balance of CALCIUM; PHOSPHORUS; and MAGNESIUM in the body.


Tumors or cancer of the PARATHYROID GLANDS.


Pins and needles feeling
Paresthesias
Tingling

Subjective cutaneous sensations (e.g., cold, warmth, tingling, pressure, etc.) that are experienced spontaneously in the absence of stimulation.


An inflammatory reaction involving the folds of the skin surrounding the fingernail. It is characterized by acute or chronic purulent, tender, and painful swellings of the tissues around the nail, caused by an abscess of the nail fold. The pathogenic yeast causing paronychia is most frequently Candida albicans. Saprophytic fungi may also be involved. The causative bacteria are usually Staphylococcus, Pseudomonas aeruginosa, or Streptococcus. (Andrews' Diseases of the Skin, 8th ed, p271)


A disorder characterized by an electrocardiographic finding of episodic atrial tachycardia with abrupt onset and termination.


periods of very rapid heart beats that begin and end abruptly


An episodic form of ventricular tachycardia, with abrupt onset and termination.


Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.


Pain in the pelvic region of genital and non-genital origin.


Neoplasia of the penis
Penis tumor
Penis tumour

Cancers or tumors of the PENIS or of its component tissues.


Ulcer that occurs in the regions of the GASTROINTESTINAL TRACT which come into contact with GASTRIC JUICE containing PEPSIN and GASTRIC ACID. It occurs when there are defects in the MUCOSA barrier. The common forms of peptic ulcers are associated with HELICOBACTER PYLORI and the consumption of nonsteroidal anti-inflammatory drugs (NSAIDS).

Sore in the lining of gastrointestinal tract


An abscess that develops in the soft tissues surrounding the anal canal. Causes include bacterial and fungal infections, malignancies that involve the perianal region, and Crohn disease.


Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment.


Pericardial effusions
Fluid around heart

Fluid accumulation within the PERICARDIUM. Serous effusions are associated with pericardial diseases. Hemopericardium is associated with trauma. Lipid-containing effusion (chylopericardium) results from leakage of THORACIC DUCT. Severe cases can lead to CARDIAC TAMPONADE.


Swelling or irritation of membrane around heart

Inflammation of the PERICARDIUM from various origins, such as infection, neoplasm, autoimmune process, injuries, or drug-induced. Pericarditis usually leads to PERICARDIAL EFFUSION, or CONSTRICTIVE PERICARDITIS.


Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS.


Inflammation of the connective and adipose tissues surrounding the KIDNEY.


Pathological processes involving the PERIODONTIUM including the gum (GINGIVA), the alveolar bone (ALVEOLAR PROCESS), the DENTAL CEMENTUM, and the PERIODONTAL LIGAMENT.


Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)


Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed)


Peripheral nerve damage
Peripheral neuritis

A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.


Neoplasm of the peripheral nervous system

Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)


INFLAMMATION of the PERITONEUM lining the ABDOMINAL CAVITY as the result of infectious, autoimmune, or chemical processes. Primary peritonitis is due to infection of the PERITONEAL CAVITY via hematogenous or lymphatic spread and without intra-abdominal source. Secondary peritonitis arises from the ABDOMINAL CAVITY itself through RUPTURE or ABSCESS of intra-abdominal organs.


A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT).


A congenital defect in the atrial septum at the level of the atrioventricular valves, resulting in abnormalities in the mitral and/or tricuspid valve; this defect is most commonly seen in those with Trisomy 21.


A major deviation from normal patterns of behavior.


Purple or red hemorrhagic pinpoint spots in the skin or mucous membranes.


Tumour of the pharynx
Pharyngeal neoplasm
Neoplasia of the pharynx
Neoplasm of the pharynx


A usually benign, well-encapsulated, lobular, vascular tumor of chromaffin tissue of the ADRENAL MEDULLA or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of EPINEPHRINE and NOREPINEPHRINE, is HYPERTENSION, which may be persistent or intermittent. During severe attacks, there may be HEADACHE; SWEATING, palpitation, apprehension, TREMOR; PALLOR or FLUSHING of the face, NAUSEA and VOMITING, pain in the CHEST and ABDOMEN, and paresthesias of the extremities. The incidence of malignancy is as low as 5% but the pathologic distinction between benign and malignant pheochromocytomas is not clear. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1298)


A congenital malformation in which the upper portion of a limb is either shortened or absent.


A red, edematous rash that occurs on areas of the skin with recent exposure to sunlight.


The persistent eating of non-nutritive substances for a period of at least one month.


Robin sequence
Pierre Robin sequence
Pierre-robin anomaly
Pierre-robin deformity
Pierre-Robin sequence

Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.


A hair-containing cyst or sinus, occurring chiefly in the coccygeal region.


Pineal parenchymal tumour
Pinealoma
Pineal parenchymal cell neoplasm

Neoplasms which originate from pineal parenchymal cells that tend to enlarge the gland and be locally invasive. The two major forms are pineocytoma and the more malignant pineoblastoma. Pineocytomas have moderate cellularity and tend to form rosette patterns. Pineoblastomas are highly cellular tumors containing small, poorly differentiated cells. These tumors occasionally seed the neuroaxis or cause obstructive HYDROCEPHALUS or Parinaud's syndrome. GERMINOMA; CARCINOMA, EMBRYONAL; GLIOMA; and other neoplasms may arise in the pineal region with germinoma being the most common pineal region tumor. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2064; Adams et al., Principles of Neurology, 6th ed, p670)


Pituitary gland adenoma
Noncancerous tumour in pituitary gland
Pituitary adenoma

A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss.


Pituitary disease
disorder of pituitary gland

Disorders involving either the ADENOHYPOPHYSIS or the NEUROHYPOPHYSIS. These diseases usually manifest as hypersecretion or hyposecretion of PITUITARY HORMONES. Neoplastic pituitary masses can also cause compression of the OPTIC CHIASM and other adjacent structures.


The anterior glandular lobe of the pituitary gland, also known as the adenohypophysis. It secretes the ADENOHYPOPHYSEAL HORMONES that regulate vital functions such as GROWTH; METABOLISM; and REPRODUCTION.


Neoplasms which arise from or metastasize to the PITUITARY GLAND. The majority of pituitary neoplasms are adenomas, which are divided into non-secreting and secreting forms. Hormone producing forms are further classified by the type of hormone they secrete. Pituitary adenomas may also be characterized by their staining properties (see ADENOMA, BASOPHIL; ADENOMA, ACIDOPHIL; and ADENOMA, CHROMOPHOBE). Pituitary tumors may compress adjacent structures, including the HYPOTHALAMUS, several CRANIAL NERVES, and the OPTIC CHIASM. Chiasmal compression may result in bitemporal HEMIANOPSIA.


Abnormal placentation in which all or parts of the PLACENTA are attached directly to the MYOMETRIUM due to a complete or partial absence of DECIDUA. It is associated with POSTPARTUM HEMORRHAGE because of the failure of placental separation.


Any discrete, presumably solitary, mass of neoplastic PLASMA CELLS either in BONE MARROW or various extramedullary sites.


Flattening of the skull base
Platybasia
Obtuse basal angle of skull base

A developmental deformity of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward. (Dorland, 27th ed)


Presence of fluid in the pleural cavity resulting from excessive transudation or exudation from the pleural surfaces. It is a sign of disease and not a diagnosis in itself.


An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles [PMID:26229557]


Inflammation of tissues lining lungs and chest

INFLAMMATION of PLEURA, the lining of the LUNG. When PARIETAL PLEURA is involved, there is pleuritic CHEST PAIN.


Infection of the lung often accompanied by inflammation.


A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper RESPIRATORY TRACT.


Pneumonia due to aspiration or inhalation of various oily or fatty substances or otherwise accumulation of endogenous lipid substances in the PULMONARY ALVEOLI.


An accumulation of air or gas in the PLEURAL CAVITY, which may occur spontaneously or as a result of trauma or a pathological process. The gas may also be introduced deliberately during PNEUMOTHORAX, ARTIFICIAL.


Polycystic ovary
Polycystic ovary disease

A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.


An increase in the total red cell mass of the blood. (Dorland, 27th ed)


Frequent menses; menstrual cycles lasting less than 21 days. [PMID:22594864]


Inflammation of several peripheral nerves.


Urination of a large volume of urine with an increase in urinary frequency, commonly seen in diabetes (DIABETES MELLITUS; DIABETES INSIPIDUS).


A SYNOVIAL CYST located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint.


Uterine bleeding occurring after menopause.


Post-partum haemorrhage
Bleeding post-delivery

Excess blood loss from uterine bleeding associated with OBSTETRIC LABOR or CHILDBIRTH. It is defined as blood loss greater than 500 ml or of the amount that adversely affects the maternal physiology, such as BLOOD PRESSURE and HEMATOCRIT. Postpartum hemorrhage is divided into two categories, immediate (within first 24 hours after birth) or delayed (after 24 hours postpartum).


A complication of PREGNANCY, characterized by a complex of symptoms including maternal HYPERTENSION and PROTEINURIA with or without pathological EDEMA. Symptoms may range between mild and severe. Pre-eclampsia usually occurs after the 20th week of gestation, but may develop before this time in the presence of trophoblastic disease.


A potentially life-threatening condition in which EMBRYO IMPLANTATION occurs outside the cavity of the UTERUS. Most ectopic pregnancies (>96%) occur in the FALLOPIAN TUBES, known as TUBAL PREGNANCY. They can be in other locations, such as UTERINE CERVIX; OVARY; and abdominal cavity (PREGNANCY, ABDOMINAL).


Atrial ectopic beats
Atrial premature complex
Ectopic supraventricular rhythms
PACs
Premature supraventricular beats

A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites. The ectopic signals may or may not conduct to the HEART VENTRICLES. Atrial premature complexes are characterized by premature P waves on ECG which are different in configuration from the P waves generated by the normal pacemaker complex in the SINOATRIAL NODE.


A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it.


Gradual bilateral hearing loss associated with aging that is due to progressive degeneration of cochlear structures and central auditory pathways. Hearing loss usually begins with the high frequencies then progresses to sounds of middle and low frequencies.

Old-aged sensorineural hearing impairment


A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet. [HPO:skoehler]


A prolonged painful erection that may lasts hours and is not associated with sexual activity. It is seen in patients with SICKLE CELL ANEMIA, advanced malignancy, spinal trauma; and certain drug treatments.


Pituitary prolactin cell adenoma
Prolactinoma
Prolactin-secreting pituitary adenoma

A pituitary adenoma which secretes PROLACTIN, leading to HYPERPROLACTINEMIA. Clinical manifestations include AMENORRHEA; GALACTORRHEA; IMPOTENCE; HEADACHE; visual disturbances; and CEREBROSPINAL FLUID RHINORRHEA.


Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment.


Pathological conditions in the INTESTINES that are characterized by the gastrointestinal loss of serum proteins, including SERUM ALBUMIN; IMMUNOGLOBULINS; and at times LYMPHOCYTES. Severe condition can result in HYPOGAMMAGLOBULINEMIA or LYMPHOPENIA. Protein-losing enteropathies are associated with a number of diseases including INTESTINAL LYMPHANGIECTASIS; WHIPPLE'S DISEASE; and NEOPLASMS of the SMALL INTESTINE.


The presence of proteins in the urine, an indicator of KIDNEY DISEASES.


A syndrome characterized by abdominal wall musculature deficiency, cryptorchism, and urinary tract abnormalities. The syndrome derives its name from its characteristic distended abdomen with wrinkled skin.


An intense itching sensation that produces the urge to rub or scratch the skin to obtain relief.


Intense itching of the external female genitals.


A pathologic entity characterized by deossification of a weight-bearing long bone, followed by bending and pathologic fracture, with inability to form normal BONY CALLUS leading to existence of the "false joint" that gives the condition its name. (Dorland, 27th ed)


Pseudobulbar paralysis
Pseudobulbar palsy

A syndrome characterized by DYSARTHRIA, dysphagia, dysphonia, impairment of voluntary movements of tongue and facial muscles, and emotional lability. This condition is caused by diseases that affect the motor fibers that travel from the cerebral cortex to the lower BRAIN STEM (i.e., corticobulbar tracts); including MULTIPLE SCLEROSIS; MOTOR NEURON DISEASE; and CEREBROVASCULAR DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, p489)


A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION.


A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN.


A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis.


A headache associated with muscle tightness which may radiate to other parts of the body.


A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse.


Disorders in which there is a loss of ego boundaries or a gross impairment in reality testing with delusions or prominent hallucinations. (From DSM-IV, 1994)


Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits. [HPO:probinson]


Delayed pubertal development
Delayed pubertal growth
Delayed puberty

The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not.


Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE.


Lung oedema
Pulmonary oedema
Excess fluid in lungs
Wet lung
Pulmonary edema

Excessive accumulation of extravascular fluid in the lung, an indication of a serious underlying disease or disorder. Pulmonary edema prevents efficient PULMONARY GAS EXCHANGE in the PULMONARY ALVEOLI, and can be life-threatening.


Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS.


Enlargement of air spaces distal to the TERMINAL BRONCHIOLES where gas-exchange normally takes place. This is usually due to destruction of the alveolar wall. Pulmonary emphysema can be classified by the location and distribution of the lesions.


A condition characterized by infiltration of the lung with EOSINOPHILS due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents.


A process in which normal lung tissues are progressively replaced by FIBROBLASTS and COLLAGEN causing an irreversible loss of the ability to transfer oxygen into the bloodstream via PULMONARY ALVEOLI. Patients show progressive DYSPNEA finally resulting in death.


Hypertrophy and dilation of the RIGHT VENTRICLE of the heart that is caused by PULMONARY HYPERTENSION. This condition is often associated with pulmonary parenchymal or vascular diseases, such as CHRONIC OBSTRUCTIVE PULMONARY DISEASE and PULMONARY EMBOLISM.


A benign or malignant small, oval or round growth in the lung. It can be due to infectious, inflammatory or neoplastic processes.


Pulmonary incompetence
Pulmonary insufficiency
Puolmonary valve insufficiency
Pulmonary valve regurgitation

Backflow of blood from the PULMONARY ARTERY into the RIGHT VENTRICLE due to imperfect closure of the PULMONARY VALVE.


Narrowing of pulmonic valve
Pulmonary valve stenosis
Pulmonary stenosis
Pulmonic stenosis

The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.


Pathological process resulting in the fibrous obstruction of the small- and medium-sized PULMONARY VEINS and PULMONARY HYPERTENSION. Veno-occlusion can arise from fibrous proliferation of the VASCULAR INTIMA and VASCULAR MEDIA; THROMBOSIS; or a combination of both.


Purplish or brownish red discoloration, easily visible through the epidermis, caused by hemorrhage into the tissues. When the size of the discolorization is >2-3 cm it is generally called Ecchymoses (ECCHYMOSIS).


Inflammation of the KIDNEY involving the renal parenchyma (the NEPHRONS); KIDNEY PELVIS; and KIDNEY CALICES. It is characterized by ABDOMINAL PAIN; FEVER; NAUSEA; VOMITING; and occasionally DIARRHEA.


A chronic inflammatory condition of the KIDNEY resulting in diffuse renal destruction, a grossly enlarged and nonfunctioning kidney associated with NEPHROLITHIASIS and KIDNEY STONES.


Any purulent skin disease (Dorland, 27th ed).


The presence of white blood cells (LEUKOCYTES) in the urine. It is often associated with bacterial infections of the urinary tract. Pyuria without BACTERIURIA can be caused by TUBERCULOSIS, stones, or cancer.


Quadriplegia
Paralysis of all four limbs

Severe or complete loss of motor function in all four limbs which may result from BRAIN DISEASES; SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or rarely MUSCULAR DISEASES. The locked-in syndrome is characterized by quadriplegia in combination with cranial muscle paralysis. Consciousness is spared and the only retained voluntary motor activity may be limited eye movements. This condition is usually caused by a lesion in the upper BRAIN STEM which injures the descending cortico-spinal and cortico-bulbar tracts.


Slow-growing fluid-filled epithelial sac at the apex of a tooth with a nonvital pulp or defective root canal filling.


Abnormal breath sounds (crackles) heard on auscultation, indicating inflammation, fluid, or infection of the lung.


An idiopathic vascular disorder characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or CYANOSIS in response to cold exposure or stress.


An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease.


Sensitivity to noise
Loudness intolerance

An abnormally disproportionate increase in the sensation of loudness in response to auditory stimuli of normal volume. COCHLEAR DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES; FACIAL NERVE DISEASES; STAPES SURGERY; and other disorders may be associated with this condition.


An abnormal anatomical passage connecting the RECTUM to the outside, with an orifice at the site of drainage.


A polypoid lesion that arises from the rectum and protrudes into the lumen. This group includes adenomatous polyps, serrated polyps, and hamartomatous polyps.


Rectum protrudes through anus
Rectal prolapsed

Protrusion of the rectal mucous membrane through the anus. There are various degrees: incomplete with no displacement of the anal sphincter muscle; complete with displacement of the anal sphincter muscle; complete with no displacement of the anal sphincter muscle but with herniation of the bowel; and internal complete with rectosigmoid or upper rectum intussusception into the lower rectum.


An abnormal anatomical passage between the RECTUM and the VAGINA.

Abnormal connection between rectum and vagina


Suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production.


An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.


Positive Babinski sign
Extensor plantar reflexes
Babinski sign
Extensor plantar responses

A reflex found in normal infants consisting of dorsiflexion of the HALLUX and abduction of the other TOES in response to cutaneous stimulation of the plantar surface of the FOOT. In adults, it is used as a diagnostic criterion, and if present is a NEUROLOGIC MANIFESTATION of dysfunction in the CENTRAL NERVOUS SYSTEM.


Narrowing of a main artery in the kidney.


A severe irreversible decline in the ability of kidneys to remove wastes, concentrate URINE, and maintain ELECTROLYTE BALANCE; BLOOD PRESSURE; and CALCIUM metabolism.


A condition beginning in the first day of life that results from inadequate surfactant production, causing increased work of breathing and impaired gas exchange.


A form of hypersensitivity affecting the respiratory tract. It includes ASTHMA and RHINITIS, ALLERGIC, SEASONAL.


Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them. (Stedman, 25th ed)


Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders.


Respiratory tract infection
Respiratory infections

Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases.


Respiratory system tumour
Respiratory system tumor

Tumors or cancer of the RESPIRATORY SYSTEM.


Willis-Ekbom disease
Restless legs
Restless legs syndrome

A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep.


Anomaly of the retina
Retina issue
Abnormality of the retina
Abnormal retina

A structural abnormality of the retina. [HPO:probinson]


Sudden ISCHEMIA in the RETINA due to blocked blood flow through the CENTRAL RETINAL ARTERY or its branches leading to sudden complete or partial loss of vision, respectively, in the eye.


A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)


Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Retinal detachment occurs more commonly in men than in women, in eyes with degenerative myopia, in aging and in aphakia. It may occur after an uncomplicated cataract extraction, but it is seen more often if vitreous humor has been lost during surgery. (Dorland, 27th ed; Newell, Ophthalmology: Principles and Concepts, 7th ed, p310-12).


Noninflammatory retina disease
Retinopathy


Congenital, often bilateral, retinal abnormality characterized by the arrangement of outer nuclear retinal cells in a palisading or radiating pattern surrounding a central ocular space. This disorder is sometimes hereditary.


Retinal haemorrhages
Retinal hemorrhage
Retinal bleeding
Retinal hemorrhages

Bleeding from the vessels of the retina.


Formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina.


Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes.


Blockage of the RETINAL VEIN. Those at high risk for this condition include patients with HYPERTENSION; DIABETES MELLITUS; ATHEROSCLEROSIS; and other CARDIOVASCULAR DISEASES.


Inflammation of the RETINA. It is rarely limited to the retina, but is commonly associated with diseases of the choroid (CHORIORETINITIS) and of the OPTIC DISK (neuroretinitis).


Hereditary, progressive degeneration of the retina due to death of ROD PHOTORECEPTORS initially and subsequent death of CONE PHOTORECEPTORS. It is characterized by deposition of pigment in the retina.


A malignant tumor arising from the nuclear layer of the retina that is the most common primary tumor of the eye in children. The tumor tends to occur in early childhood or infancy and may be present at birth. The majority are sporadic, but the condition may be transmitted as an autosomal dominant trait. Histologic features include dense cellularity, small round polygonal cells, and areas of calcification and necrosis. An abnormal pupil reflex (leukokoria); NYSTAGMUS, PATHOLOGIC; STRABISMUS; and visual loss represent common clinical characteristics of this condition. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104)


A bilateral retinopathy occurring in premature infants treated with excessively high concentrations of oxygen, characterized by vascular dilatation, proliferation, and tortuosity, edema, and retinal detachment, with ultimate conversion of the retina into a fibrous mass that can be seen as a dense retrolental membrane. Usually growth of the eye is arrested and may result in microophthalmia, and blindness may occur. (Dorland, 27th ed)


Retrogenia
Receding chin
Lower jaw retrognathia
Retrognathia of lower jaw
Receding mandible
Receding lower jaw
Weak chin
Weak jaw

The condition or state of a person suffering from retrognathia.


A slowly progressive condition of unknown etiology, characterized by deposition of fibrous tissue in the retroperitoneal space compressing the ureters, great vessels, bile duct, and other structures. When associated with abdominal aortic aneurysm, it may be called chronic periaortitis or inflammatory perianeurysmal fibrosis.


Necrosis or disintegration of skeletal muscle often followed by myoglobinuria.


A benign tumor derived from striated muscle. It is extremely rare, generally occurring in the tongue, neck muscles, larynx, uvula, nasal cavity, axilla, vulva, and heart. These tumors are treated by simple excision. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354)


A malignant solid tumor arising from mesenchymal tissues which normally differentiate to form striated muscle. It can occur in a wide variety of sites. It is divided into four distinct types: pleomorphic, predominantly in male adults; alveolar (RHABDOMYOSARCOMA, ALVEOLAR), mainly in adolescents and young adults; embryonal (RHABDOMYOSARCOMA, EMBRYONAL), predominantly in infants and children; and botryoidal, also in young children. It is one of the most frequently occurring soft tissue sarcomas and the most common in children under 15. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p2186; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1647-9)


Inflammation of the NASAL MUCOSA, the mucous membrane lining the NASAL CAVITIES.


An abnormal sound similar to snoring heard on auscultation of the bronchial airways, suggesting a partial obstruction due to thick secretions, a muscular spasm, or a neoplasm.


Vitamin B2 deficiency
Low levels of vitamin B2

A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)


Disorders caused by interruption of BONE MINERALIZATION manifesting as OSTEOMALACIA in adults and characteristic deformities in infancy and childhood due to disturbances in normal BONE FORMATION. The mineralization process may be interrupted by disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis, resulting from dietary deficiencies, or acquired, or inherited metabolic, or hormonal disturbances.


An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided.


Right ventricular outlet tract obstruction

Occlusion of the outflow tract in the RIGHT VENTRICLE of the heart.


Undertaking a task involving a challenge for achievement or a desirable goal in which there is a lack of certainty or a fear of failure. It may also include the exhibiting of certain behaviors whose outcomes may present a risk to the individual or to those associated with him or her.


A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids.


A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub. [PMID:16551982]


Tumor of salivary gland
Salivary gland neoplasm
Tumour of salivary gland

Tumors or cancer of the SALIVARY GLANDS.


A multicentric, malignant neoplastic vascular proliferation characterized by the development of bluish-red cutaneous nodules, usually on the lower extremities, most often on the toes or feet, and slowly increasing in size and number and spreading to more proximal areas. The tumors have endothelium-lined channels and vascular spaces admixed with variably sized aggregates of spindle-shaped cells, and often remain confined to the skin and subcutaneous tissue, but widespread visceral involvement may occur. Kaposi's sarcoma occurs spontaneously in Jewish and Italian males in Europe and the United States. An aggressive variant in young children is endemic in some areas of Africa. A third form occurs in about 0.04% of kidney transplant patients. There is also a high incidence in AIDS patients. (From Dorland, 27th ed & Holland et al., Cancer Medicine, 3d ed, pp2105-7) HHV-8 is the suspected cause.


Sherman's Disease
Morbus Scheuermann
Calve disease
Scheuermann disease
Scheuermann kyphosis

A type of juvenile osteochondrosis affecting the fibrocartilaginous disc (INTERVERTEBRAL DISC) in the thoracic or thoracolumbar region of the SPINE. It is characterized by a forward concave SPINAL CURVATURE or KYPHOSIS.


A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.


A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of SCIATIC NEUROPATHY; RADICULOPATHY (involving the SPINAL NERVE ROOTS; L4, L5, S1, or S2, often associated with INTERVERTEBRAL DISK DISPLACEMENT); or lesions of the CAUDA EQUINA.


An anomalous pulmonary venous return in which the right PULMONARY VEIN is not connected to the LEFT ATRIUM but to the INFERIOR VENA CAVA. Scimitar syndrome is named for the crescent- or Turkish sword-like shadow in the chest radiography and is often associated with hypoplasia of the right lung and right pulmonary artery, and dextroposition of the heart.


Refers to any inflammation of the sclera including episcleritis, a benign condition affecting only the episclera, which is generally short-lived and easily treated. Classic scleritis, on the other hand, affects deeper tissue and is characterized by higher rates of visual acuity loss and even mortality, particularly in necrotizing form. Its characteristic symptom is severe and general head pain. Scleritis has also been associated with systemic collagen disease. Etiology is unknown but is thought to involve a local immune response. Treatment is difficult and includes administration of anti-inflammatory and immunosuppressive agents such as corticosteroids. Inflammation of the sclera may also be secondary to inflammation of adjacent tissues, such as the conjunctiva.

Inflammation of the outer white part of the eye


An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)


A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of EYE DISEASES (e.g., RETINAL DISEASES and GLAUCOMA); OPTIC NERVE DISEASES, and other conditions.


Sea-blue histiocytosis
Sea-blue histiocyte

A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.


A chronic inflammatory disease of the skin with unknown etiology. It is characterized by moderate ERYTHEMA, dry, moist, or greasy (SEBACEOUS GLAND) scaling and yellow crusted patches on various areas, especially the scalp, that exfoliate as dandruff. Seborrheic dermatitis is common in children and adolescents with HIV INFECTIONS.


Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."


The act of injuring one's own body to the extent of cutting off or permanently destroying a limb or other essential part of a body.


An age-related, anatomical abnormality that is caused by thickening of the lens of the eye.

Clouding of the lens of the eye with age


Benign, pigmented spots on the skin that are associated with aging and exposure to ultraviolet radiation from the sun. The spots are found on areas of the body that are most often exposed to the sun; including the hands, face, shoulders, arms, forehead, and scalp. In some cases, this condition may mimic melanoma.


Systemic disease associated with the presence of pathogenic microorganisms or their toxins in the blood.


Severe mental retardation
Intellectual disability, severe
Mental retardation, severe

Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34. [HPO:probinson]


Involuntary contraction or twitching of the muscles. It is a physiologic method of heat production in man and other mammals.


A pathological condition manifested by failure to perfuse or oxygenate vital organs.


Shock resulting from diminution of cardiac output in heart disease.


Displacement of the HUMERUS from the SCAPULA.


Fractures of the proximal humerus, including the head, anatomic and surgical necks, and tuberosities.


Unilateral or bilateral pain of the shoulder. It is often caused by physical activities such as work or sports participation, but may also be pathologic in origin.


Discomfort and partial inhibition of the usual forms of behavior when in the presence of others.


INFLAMMATION of salivary tissue (SALIVARY GLANDS), usually due to INFECTION or injuries.


Excessive production of saliva
Ptyalism
Sialorrhea
Excessive salivation


A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects.


Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the SINOATRIAL NODE to the HEART ATRIA. It is characterized by a delayed in heartbeat and pauses between P waves in an ELECTROCARDIOGRAM.


Inflammation of the NASAL MUCOSA in one or more of the PARANASAL SINUSES.


A disorder characterized by the malformation of the legs into a single lower limb.


Abdominal situs inversus
Situs inversus viscerum
Situs inversus visceralis

A congenital abnormality in which organs in the THORAX and the ABDOMEN are opposite to their normal positions (situs solitus) due to lateral transposition. Normally the STOMACH and SPLEEN are on the left, LIVER on the right, the three-lobed right lung is on the right, and the two-lobed left lung on the left. Situs inversus has a familial pattern and has been associated with a number of genes related to microtubule-associated proteins.


Dermopathy
Abnormality of the skin
Skin abnormality

Congenital structural abnormalities of the skin.


Skin diseases caused by bacteria, fungi, parasites, or viruses.


Skin tumors
Skin tumours
Tumour of the skin
Dermatological tumours
Neoplasia of the skin
Dermatological tumors
Tumor of the skin


Growth of abnormal tissue on or under the skin

A benign or malignant round or oval and elevated solid lesion that arises from the skin or subcutaneous tissue.


A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp.


An ULCER of the skin and underlying tissues.


Fractures of the skull which may result from penetrating or nonpenetrating head injuries or rarely BONE DISEASES (see also FRACTURES, SPONTANEOUS). Skull fractures may be classified by location (e.g., SKULL FRACTURE, BASILAR), radiographic appearance (e.g., linear), or based upon cranial integrity (e.g., SKULL FRACTURE, DEPRESSED).


Sleep apnea
Pauses in breathing while sleeping

Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types.


Difficulty sleeping
Sleep disturbance
Sleep disturbances
Trouble sleeping

An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness. [HPO:curators]


Sleep terror
Pavor nocturnus
Sleep terrors

A disorder characterized by incomplete arousals from sleep associated with behavior suggesting extreme fright. This condition primarily affects children and young adults and the individual generally has no recall of the event. Episodes tend to occur during stage III or IV. SOMNAMBULISM is frequently associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p391)


The sudden, forceful, involuntary expulsion of air from the NOSE and MOUTH caused by irritation to the MUCOUS MEMBRANES of the upper RESPIRATORY TRACT.


Rough, noisy breathing during sleep, due to vibration of the uvula and soft palate.


Neoplasms of whatever cell type or origin, occurring in the extraskeletal connective tissue framework of the body including the organs of locomotion and their various component structures, such as nerves, blood vessels, lymphatics, etc.


A parasomnia characterized by a partial arousal that occurs during stage IV of non-REM sleep. Affected individuals exhibit semipurposeful behaviors such as ambulation and are difficult to fully awaken. Children are primarily affected, with a peak age range of 4-6 years.


An involuntary contraction of a muscle or group of muscles. Spasms may involve SKELETAL MUSCLE or SMOOTH MUSCLE.


An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)


Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways.


Progressive spasticity of the lower limbs with exaggerated deep tendon reflexes and Babinski sign classified as pure (with spasticity as the only manifestation) and complicated (with brain abnormalities and mental retardation) forms which are further subdivided into several categories according to their genetic and clinical characteristics. It is involved in numerous syndromic entities. spastic paraplegia 1 (SPG1) (OMIM 312900) Synonym: X-linked complicated spastic paraplegia (SPPX1) Spastic paraplegia, transmitted as an X-linked trait, with neurological complications involving the cerebellum, cerebral cortex, and optic nerves. Severe mental retardation is a constant feature. spastic paraplegia 2 (SPG2) (OMIM 312920) Synonyms: Goldblatt syndrome X-linked uncomplicated spastic paraplegia (SPPX2) Spastic paraplegia, transmitted as an X-linked trait, with nystagmus, optic atrophy, intellectual handicap, and mild ataxia of the upper limbs. spastic paraplegia 3 (SPG3) (OMIM 182600) Synonyms: Strumpell disease Strumpell familial spastic paraplegia Strumpell-Lorrain syndrome von Strumpell syndrome A slowly progressive familial disease, transmitted as an autosomal dominant trait, with lower limb spasticity, gait difficulties, and weakness. Neurological changes involve the lateral cortical tracts and fasciculus gracilis. Some patients exhibit ataxia and neurogenic bladder. spastic paraplegia 4 (SPG4) (OMIM 182601) An uncomplicated form of SPG2 transmitted as an autosomal dominant trait and marked mainly by progressive spasticity of the lower limbs. spastic paraplegia-epilepsy-mental retardation (SPERM) syndrome (OMIM 182610) A syndrome with incomplete penetrance and variable expresivity with progressive weakness and spasticity of the lower limbs, epilepsy, and mental retardation. spastic paraplegia-sensorineural deafness-mental retardation-progressive nephropathy syndrome (OMIM 182690) A complicated form, transmitted as an autosomal dominant trait, with variable spasticity of the lower limbs, sensorineural deafness, delayed mental development, and progressive nephropathy. spastic paraplegia-amyotrophy of hands syndrome (OMIM 182700) Synonyms: Silver syndrome spastic paraplegia-amyotrophy of hands syndrome Spastic paraplegia transmitted, as an autosomal dominant trait, with amyotrophic changes in the upper limbs. spastic paraplegia-extrapyramidal signs syndrome (OMIM 182800) Spastic paraplegia associated with extrapyramidal signs and transmitted as an autosomal dominant trait. spastic paraplegia-neuropathy-poikiloderma syndrome (OMIM 182815) Spastic paraplegia associated with demyelinating peripheral neuropathy, poikiloderma, and loss of eyebrows and eyelashes which is transmitted as an autosomal dominant trait. spastic paraplegia-precocious puberty syndrome (OMIM 182820) Spastic paraplegia with Leydig cell hypoplasia, precocious puberty, brisk leg reflexes, dysarthria, and mild mental retardation which is transmitted as an autosomal dominant trait. spastic paraplegia-optic atrophy-dementia syndrome (OMIM 182830) Spastic paraplegia with optic atrophy, constricted visual fields, and early dementia, which is transmitted as an autosomal dominant trait. spastic paraplegia-retinal degeneration syndrome (OMIM 270700) Synonym: familial spastic paraplegia with retinal degeneration recessive spastic paraplegia with retinal degeneration Spastic paraplegia, transmitted as an autosomal recessive trait, with retinal degeneration and dull mentality. spastic paraplegia-brachydactyly E syndrome (OMIM 270710) Spastic paraplegia ,transmitted as an autosomal recessive trait, with brachydactyly type E, cone-shaped epiphyses, abnormal finger metaphyses, dysarthria, and low-normal intelligence. spastic paraplegia-pigmentary abnormalities syndrome (OMIM 270750) Spastic paraplegia, transmitted as an autosomal recessive trait, with abnormal pigmentation (mainly crural hypopigmentation, pigmented nevi, and depigmented hair), progressive spastic paraparesis, and cerebellar ataxia. hereditary spastic paraplegia (HSP) (OMIM 270800) Synonym: paraplegia spastica hereditaria Spastic paraplegia transmitted as an autosomal recessive trait. Neurological involvement includes pyramidal disorders, dysarthria, impaired vibratory sense, and dysfunction of the glossopharyngeal (ninth), vagus (tenth), and hypoglossal (twelfth) nerves. Mental retardation and visual disorders occur in some cases. spastic paraplegia-epileptic myoclonus syndrome (OMIM 270805) Synonym: hereditary spastic paraplegia-epileptic myoclonus syndrome Spastic paraplegia, transmitted as an autosomal recessive trait, with epileptic myoclonus, muscle atrophy, mental retardation or dullness, ataxia, and hearing loss. spastic paresis-glaucoma-mental retardation syndrome (OMIM 270850) Synonym: spastic paresis-glaucoma-mental retardation syndrome Spastic paraplegia with glaucoma and speech and mental retardation. Transmitted as an autosomal recessive trait with parental consanguinity. spastic athetotic paraplegia (OMIM 312890) Synonym: Baar-Gabriel syndrome Spastic paraplegia, transmitted as an X-linked trait, with athetosis, mental retardation and occasional grand mal epilepsy and myoclonus.


Speech impediment
Speech disorder
Speech impairment

Acquired or developmental conditions marked by an impaired ability to comprehend or generate spoken forms of language.


The twisting of the SPERMATIC CORD due to an anatomical abnormality that left the TESTIS mobile and dangling in the SCROTUM. The initial effect of testicular torsion is obstruction of venous return. Depending on the duration and degree of cord rotation, testicular symptoms range from EDEMA to interrupted arterial flow and testicular pain. If blood flow to testis is absent for 4 to 6 h, SPERMATOGENESIS may be permanently lost.


A cystic dilation of the EPIDIDYMIS, usually in the head portion (caput epididymis). The cyst fluid contains dead SPERMATOZOA and can be easily differentiated from TESTICULAR HYDROCELE and other testicular lesions.


Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence.


Pathologic conditions which feature SPINAL CORD damage or dysfunction, including disorders involving the meninges and perimeningeal spaces surrounding the spinal cord. Traumatic injuries, vascular diseases, infections, and inflammatory/autoimmune processes may affect the spinal cord.


Spinal cord tumour
Tumor of the spinal cord
Tumour of the spinal cord
Spinal tumors
Spinal tumor

Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA.


New abnormal growth of tissue in the SPINE.


Rupture of the SPLEEN due to trauma or disease.


Inflammation of the SPINE. This includes both arthritic and non-arthritic conditions.


A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). [HPO:probinson]


Displacement of one backbone compared to another

Forward displacement of a superior vertebral body over the vertebral body below.


Deficient development or degeneration of a portion of the VERTEBRA, usually in the pars interarticularis (the bone bridge between the superior and inferior facet joints of the LUMBAR VERTEBRAE) leading to SPONDYLOLISTHESIS.


A sudden intense and continuous aggravation of a state of asthma, marked by dyspnea to the point of exhaustion and collapse and not responding to the usual therapeutic efforts.


Repeated seizures without recovery between them

A prolonged seizure or seizures repeated frequently enough to prevent recovery between episodes occurring over a period of 20-30 minutes. The most common subtype is generalized tonic-clonic status epilepticus, a potentially fatal condition associated with neuronal injury and respiratory and metabolic dysfunction. Nonconvulsive forms include petit mal status and complex partial status, which may manifest as behavioral disturbances. Simple partial status epilepticus consists of persistent motor, sensory, or autonomic seizures that do not impair cognition (see also EPILEPSIA PARTIALIS CONTINUA). Subclinical status epilepticus generally refers to seizures occurring in an unresponsive or comatose individual in the absence of overt signs of seizure activity. (From N Engl J Med 1998 Apr 2;338(14):970-6; Neurologia 1997 Dec;12 Suppl 6:25-30)


Greasy stools
Steatorrhea
Fatty stool
Fat in faeces

A finding of an excessive amount of fat in the stool.


Stereotyped, repetitive behavior
Stereotyped, repetitive behaviour
Stereotypical motor behaviours
Stereotypical motor behaviors
Stereotypic behaviours
Motor stereotypy
Stereotypic behaviors
Stereotypic behavior
Repetitive or self-injurious behavior
Stereotyped behavior
Repetitive movements
Stereotyped behaviours
Stereotypic behaviour
Stereotypical motor behavior
Stereotyped behaviors
Repetitive or self-injurious behaviour

Relatively invariant mode of behavior elicited or determined by a particular situation; may be verbal, postural, or expressive.


Saccular, outward protrusion of all or a portion of the wall of the STOMACH.


Stomach tumor
Neoplasia of the stomach
Stomach tumour


Ulceration of the GASTRIC MUCOSA due to contact with GASTRIC JUICE. It is often associated with HELICOBACTER PYLORI infection or consumption of nonsteroidal anti-inflammatory drugs (NSAIDS).


INFLAMMATION of the soft tissues of the MOUTH, such as MUCOSA; PALATE; GINGIVA; and LIP.


A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval. Two to eight crops of lesions occur per year, lasting for 7 to 14 days and then heal without scarring. (From Jablonski's Dictionary of Dentistry, 1992, p742)