atrial fibrillation

description: A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)


cluster headache syndrome

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms.


4-5 toe cutaneous syndactyly

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: A soft tissue continuity in the anteroposterior axis between the toes 4 and 5.


cardiovascular disorder

description: A disease involving the cardiovascular system.


Multiple suture craniosynostosis

description: Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.


Pituitary microadenoma

description: A pituitary adenoma that is less than 10 mm in diameter.


sarcosinemia

description: Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.


Abnormality of the genitourinary system

description: The presence of any abnormality of the genitourinary system.


vulvar neoplasm

description: A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma.


Post-capillary pulmonary hypertension

description: Post-capillary pulmonary hypertension is a hemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units).


jugulotympanic paraganglioma

description: A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear.


Cutaneous syndactyly

description: A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.


serositis

description: Inflammation of a serous membrane.


pulmonary hypoplasia

description: A respiratory malformation characterized by the presence of both bronchi (albeit rudimentary) and alveoli in an under-developed lobe. Both the size and the weight of the lung are reduced. The true prevalence is not well known (1.4% of all births according to Knox et al. 13), but in cases of premature rupture of membranes at 15-28 weeks gestation, the reported prevalence of pulmonary hypoplasia ranges from 9 to 28%. Factors that contribute to pulmonary hypoplasia include adequate volume of the thoracic cavity, pulmonary fluid dynamics, and abnormal fetal breathing movements.


Glanzmann thrombasthenia 1

description: A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia


name: Perivascular myocardial immune cell infiltration

description: An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels.


cortical deafness

description: An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.


name: Focal impaired awareness bilateral motor seizure

description: A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure.


intracerebral hemorrhage

description: Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma.


name: Focal impaired awareness hemifacial clonic seizure

description: Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure.


Parasomnia

description: An undesirable physical event or experience that occurs during the process of falling asleep, while asleep, or when waking up from sleep.


name: Anti-mitochondrial M2 antibody positivity

description: The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum.


Focal cognitive seizure with illusion

description: A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation.


amastia

description: Absence of one or both mammary glands.


detrusor sphincter dyssynergia

description: A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation.


Poikiloderma

description: Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.


name: Abnormal morphology of left ventricular trabeculae

description: Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae).


Multifocal seizures

description: Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).


urethra neoplasm

description: A neoplasm (disease) that involves the urethra.


coronary microvascular disorder

description: A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom.


chondrocalcinosis

description: An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints.


athetoid cerebral palsy

description: A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating.


Abnormal blood phosphate concentration

description: An abnormality of phosphate homeostasis or concentration in the body.


sacrococcygeal teratoma

description: A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns.


Extrapulmonary lobar sequestration

description: A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree.


Burkitt lymphoma

description: Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma.


juvenile myelomonocytic leukemia

description: A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)


Generalized atonic seizure

description: Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature.


Spinal hemangioblastoma

description: A hemangioblastoma of the spinal cord.


name: Anti-epidermal transglutaminase antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase.


Anti-U11/U12 RNP antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP.


gingival overgrowth

description: Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574)


name: Abnormal enzyme concentration or activity

description: Concentration or activity of an enzyme is above or below the limits of normal.


tracheal stenosis

description: Narrowing of the lumen of the trachea.


Focal aware manual automatism seizure

description: A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout.


Multiple trichilemmomata

description: Presence of multiple trichilemmomata, a benign tumor originating from the outer root sheath of the hair follicle.


name: 1-5 finger complete cutaneous syndactyly


Anti-RuvBL1/2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against RuvBL1/2.


Squamosal suture synostosis

description: Premature closure of the squamosal suture, which is one of the lateral minor skull sutures, separating the parietal and squamous temporal bones.


Compensatory scoliosis

description: A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time.


Focal aware motor seizure with version

description: A focal motor seizure with version characterized by retained awareness throughout the seizure.


Necrotizing pulmonary granulomatosis

description: A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese.


epilepsia partialis continua

description: A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)


Fabry disease

description: Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.


Intestinal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel.


angioedema

description: Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx.


Claustrophobia

description: An abnormal fear of being in a closed or narrow space with no escape is called claustrophobia.


46,XX disorder of sex development

description: Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures.


Ossifying fibroma of the jaw

description: A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed.


spondylolisthesis

description: A condition in which there is forward displacement of a vertebral bone over the on below it.


periodic limb movement disorder

description: Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)


Meat allergen allergy

description: Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products.


Generalized tonic seizure

description: A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.


Tracheal atresia

description: A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking.


facial spasm

description: Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.


pelvic organ prolapse

description: Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence.


urethritis

description: Inflammation of the urethra.


cervical dystonia

description: Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery.


name: Abnormal circulating carbohydrate concentration

description: A deviation from the normal concentration of a carbohydrate in the blood circulation.


Anti-enterocyte antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against enterocytes.


name: Abnormal circulating nitrogen compound concentration

description: Any deviation from the normal concentration of a nitrogen compound in the blood circulation.


periodontitis

description: An acute or chronic inflammatory process that affects the tissues that surround and support the teeth.


Anti-Homer-3 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3.


central nervous system cancer

description: A malignant neoplasm involving the central nervous system


Pruritus

description: Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.


Anti-AK5 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5).


craniorachischisis

description: Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.


Abnormal myocardium morphology

description: A structural anomaly of the muscle layer of the heart wall.


middle cerebral artery infarction

description: Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction.


Focal automatism seizure

description: A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity.


name: Focal autonomic seizure with pallor/flushing

description: A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature.


parathyroid hyperplasia

description: A hyperplasia that involves the parathyroid gland.


Generalized amyloid deposition

description: A diffuse form of amyloidosis.


name: Pigmented micronodular adrenocortical disease


name: Tetralogy of Fallot with pulmonary stenosis

description: The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus.


Localized hirsutism

description: Abnormally increased hair growth with a localized distribution.


Anti-DPPX antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX).


Abnormal coronary artery course

description: An abnormal path of a coronary artery.


pyoderma gangrenosum

description: Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate.


Arachnoid hemangiomatosis

description: The presence of multiple hemangiomas in the arachnoid.


Enteroviral hepatitis

description: Inflammation of the liver due to infection with enterovirus.


myofibrillar myopathy

description: Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.


hydrops fetalis

description: Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).


Positive cold agglutinin test

description: Cold agglutinin are erythrocyte antibodies which possess the property of agglutinating red blood cells at temperatures of below 37 degrees C, this phenomenon is reversible after heating.


Renal hypophosphatemia

description: Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion.


APUdoma

description: An endocrine tumor arising from an APUD cell.


spastic quadriplegic cerebral palsy

description: A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities.


Calcium channel antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels.


Myocardial calcification

description: Calcium deposition in the myocardium.


subependymal giant cell astrocytoma

description: A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO)


gout

description: A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals.


alveolar rhabdomyosarcoma

description: A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.


Abnormal pulmonary situs morphology

description: An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi.


tumor of parathyroid gland

description: A neoplasm (disease) that involves the parathyroid gland.


Abnormality of dental structure

description: An abnormality of the structure or composition of the teeth.


XK aprosencephaly

description: XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.


lipodystrophy

description: A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body.


Intrarenal abscess

description: An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis.


impacted teeth, multiple

description: The presence of multiple impacted teeth.


autosomal dominant cerebellar ataxia

description: A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.


Abnormality of mental function

description: Cognitive, psychiatric, or memory anomaly.


lipomatosis

description: A neoplastic process characterized by diffuse overgrowth of mature adipose tissue.


parathyroid gland disorder

description: A disease involving the parathyroid gland.


opiate dependence

description: Disorders related or resulting from abuse or mis-use of opioids.


ependymoma

description: A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)


Microprolactinoma

description: A pituitary prolactin cell adenoma of less than 10 mm diameter.


metabolic acidosis

description: Increased acidity in the blood secondary to acid base imbalance. Causes include diabetes, kidney failure and shock.


Migratory arthritis

description: A form of reactive arthritis in which the inflammation moves between joints.


adrenal medulla neoplasm

description: A neoplasm (disease) that involves the adrenal medulla.


isolated cerebellar hypoplasia/agenesis

description: Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.


name: congenital absence of upper arm and forearm with hand present

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


Self-healing squamous epithelioma

description: A type of skin tumor that initially presents as a reddish macule and subsequently becomes papular, enlarged, ulcerated and ultimately heals leaving pitted scars.


Lipoma of the tongue

description: A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue.


Bilambdoid synostosis

description: Premature synostosis of both lambdoid sutures.


Anti-Kv1.4 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4.


tracheal calcification

description: Abnormal deposits of calcium in the tracheal tissue.


Focal motor seizure with version

description: A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation.


name: Focal impaired awareness cognitive seizure with left-right confusion

description: A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure.


Cardiac myxoma

description: A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber.


Staghorn calculus

description: Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system.


trichilemmal cyst

description: Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous.


familial atrioventricular septal defect

description: A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.


Labial hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip.


Subpleural interstitial thickening

description: Increase in thickness of the subpleural interstitium.


muscle tissue disorder

description: A disease involving the muscle tissue.


Focal impaired awareness tonic seizure

description: A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure.


name: Anti-threonyl-tRNA synthetase antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against threonyl-tRNA synthetase.


sebocystomatosis

description: Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.


atrial septal aneurysm

description: A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography.


Concentric hypertrophic cardiomyopathy

description: Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.


lip neoplasm

description: A neoplasm (disease) that involves the lip.


Tooth agenesis

description: The absence of one or more teeth from the normal series by a failure to develop


name: idiopathic spontaneous coronary artery dissection

description: The spontaneous occurrence of a dissection of the coronary artery. The clinical recognition of this phenomenon has increased as coronary angiography is becoming more commonly used in the treatment of acute coronary syndrome. The etiology of the condition has not been fully elucidated, but the mean age of presentation is 30-45 years, more than 70% are women, and 30% of cases occur in the peripartum period.


acromegaly

description: Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.


Cleft mandible

description: Midline deficiency of the mandible and some or all overlying tissues.


Follicular hyperplasia

description: Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.


Pulmonary artery sling

description: An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum.


Brachymetatarsus 4

description: Underdevelopment (hypoplasia) of the fourth toe.


eosinophilic granuloma

description: A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes.


Abnormal inflammatory response

description: Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.


salivary gland disorder

description: A disease involving the saliva-secreting gland.


Focal autonomic seizure with erection

description: A type of focal autonomic seizure characterized by penile erection as the initial semiological feature.


cloacal exstrophy

description: A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.


Mobitz type I atrioventricular block

description: A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC)


name: hematopoietic and lymphoid system neoplasm

description: Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003


Treacher-Collins syndrome

description: A congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.


name: Abnormality of the fontanelles or cranial sutures

description: Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments).


preauricular fistulae, congenital

description: A pit or dimple in front of the ear of a newborn is a common finding; rarely, such a dimple may get infected, which will be manifested with redness and swelling and will require medical attention.


Myocardial lymphocytic infiltration

description: An increase in the number of lymphocytes in myocardial tissue.


Anti-H2A-H2B antibody positivity

description: The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer.


Anal margin neoplasm

description: A tumor of the anal margin.


Conotruncal defect

description: A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.


ovarian gonadoblastoma

description: A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites.


hemolytic-uremic syndrome

description: Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia.


Juvenile colonic polyposis

description: The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands.


megalencephaly

description: A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome).


polymorphic light eruption

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


Abnormal liver morphology

description: Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.


Sinus bradycardia

description: Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.


axonal neuropathy

description: Any nerve disorder affecting the axon of a nerve.


Follicular bronchiolitis

description: Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways.


Bronchopulmonary anastomosis

description: Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries.


atrioventricular block

description: A heart block that is initiated in the atrioventricular node.


Arterial thrombosis

description: The formation of a blood clot inside an artery.


viral encephalitis

description: Encephalitis resulting from viral infection.


Sleep onset insomnia

description: Difficulty initiating sleep, that is, increased sleep onset latency, refers to the condition where it takes 30 minutes or more to fall asleep.


name: Anti-plasminogen binding peptide antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against plasminogen binding peptide.


sciatica

description: 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.


left ventricular noncompaction

description: Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.


rhabdomyoma

description: A benign mesenchymal tumor arising from skeletal or cardiac muscle.


name: Unbalanced atrioventricular canal defect

description: Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).


Bilateral vestibular schwannoma

description: A bilateral vestibular schwannoma (acoustic neurinoma).


Left unicoronal synostosis

description: Synostosis affecting only the left coronal suture.


blood coagulation disease

description: A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood.


Klippel-Feil syndrome

description: A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.


name: Anti-liver cytosolic antigen type 1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction.


piebaldism

description: Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.


Anti-mGluR1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1).


Digestive system neoplasm

description: A tumor (abnormal growth of tissue) of the digestive system.


name: Elevated bronchoalveolar lavage fluid lymphocyte proportion

description: Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases.


Pituitary thyrotropic cell adenoma

description: A type of pituitary adenoma that produces thyroid stimulating hormone (TSH).


name: Focal impaired awareness autonomic seizure

description: A focal autonomic seizure characterized by impaired awareness at some point within the seizure.


name: Focal aware cognitive seizure with expressive dysphasia/aphasia

description: A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure.


Cementoma

description: An odontogenic tumor of the cementum of tooth.


name: Neonatal electro-clinical non-motor seizure


Neonatal sepsis

description: Systemic inflammatory response to infection in newborn babies.


bladder neck obstruction

description: Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra.


Imperforate tricuspid valve

description: A tricuspid valve that has failed to open.


right atrial isomerism

description: A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.


Anti-HLA-A antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-A (HLA-A).


Curvilinear pericallosal lipoma

description: A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum.


Anti-factor XI antibody positivity

description: The presence of an antibody in the blood circulation that is directed against factor XI.


maligant granulosa cell tumor of ovary

description: An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites.


central neurocytoma

description: Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.


name: Abnormal tricuspid valve annulus morphology

description: Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.


basal encephalocele

description: Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares.


Anti-desmoglein-1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule.


Abnormal digit morphology

description: A morphological abnormality of a digit, i.e., of a finger or toe.


thrombophlebitis

description: Inflammation of the veins associated with the presence of a thrombus.


name: Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration

description: A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature.


aneurysm of sinus of Valsalva

description: Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.


Egg allergy

description: Hypersensitivity in form of an adverse immune reaction against eggs.


hamartoma

description: A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern.


muscular dystrophy

description: Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities.


telogen effluvium

description: A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress.


congenital arteriovenous fistula

description: An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth.


acute leukemia

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


Perifollicular fibroma

description: Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle.


secondary hypertrophic osteoarthropathy

description: Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)


Neoplasm of the outer ear

description: A tumor (abnormal growth of tissue) of the outer ear.


Generalized-onset motor seizure

description: A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.


thyroglossal duct cyst

description: A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck.


name: Anomalous muscle bundle of the right ventricle

description: An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract.


Abnormal pulmonary fissure count

description: A deviation from the normal number of pulmonary fissures.


dermatitis, atopic

description: Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.


idiopathic camptocormia

description: Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.


propionic acidemia

description: Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.


name: Focal impaired awareness motor seizure with dystonia

description: A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure.


spastic diplegia

description: A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy.


Myocardial multinucleated giant cells

description: The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin.


Abdominal colic

description: A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.


Vaginal myxoma

description: A myxoma (tumor of primitive connective tissue) localized in the vagina.


acne

description: An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin.


name: Neonatal electro-clinical autonomic seizure

description: Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea.


name: Anti-SUMO-activating enzyme subunit 1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1.


Frey syndrome

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


Altman type II sacrococcygeal teratoma

description: A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component.


amniotic band syndrome

description: A group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies.


polyp of ureter

description: A polyp that involves the ureter.


Anti-H2B antibody positivity

description: The presence of autoantibodies in the blood circulation that react against histone H2B.


oromandibular dystonia

description: Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.


neoplasm of middle ear

description: A neoplasm (disease) that involves the middle ear.


pleural empyema

description: The presence of pus in the thoracic cavity, between the visceral and parietal pleura.


Adversive status epilepticus

description: A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus.


Oculoclonic status epilepticus

description: A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges.


description: Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units).


Meckel diverticulum

description: A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction.


Ebstein anomaly

description: Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.


Pericardial lymphangiectasia

description: An abnormal dilatation of lymph vessels in the pericardium.


Anti-factor V antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against factor V.


protein S deficiency

description: Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals have an increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiency are those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot.


dysembryoplastic neuroepithelial tumor

description: A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B


name: Focal aware sensory seizure with hot-cold sensations

description: A seizure characterized by sensations of feeling hot and then cold.


tricuspid atresia

description: Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV).


name: Elevated bronchoalveolar lavage fluid eosinophil proportion

description: Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced.


name: Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia

description: A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.


name: Apically displaced anterolateral papillary muscle

description: Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view,


Anti-SEZ6L2 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2).


subvalvular aortic stenosis

description: An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects.


Hearing abnormality

description: An abnormality of the sensory perception of sound.


split foot

description: A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.


Hamartoma of tongue

description: A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.


name: Increased sulfur amino acid level in urine

description: An elevated level of a sulfur-containing amino acid in the urine.


Anti-Ki antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ki.


name: Focal aware cognitive seizure with forced thinking

description: A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure.


cystitis

description: Inflammation of the urinary bladder.


name: Neonatal seizure with electrographic correlate

description: Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation.


Abnormal tricuspid valve morphology

description: Any structural anomaly of the tricuspid valve.


Right ventricular aneurysm

description: A localized, abnormal dilation or bulging of a portion of the right ventricular wall.


salpingitis

description: Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy.


Supraglottic hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords.


aortic atherosclerosis

description: A atherosclerosis that involves the aorta.


spermatocele

description: A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris.


congenital laryngomalacia

description: Increased collapsibility of the larynx.


Anti-Septin-5 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5.


name: Abnormal pulmonary valve cusp morphology

description: Any structural anomaly of the pulmonary valve leaflets.


name: adnexal spiradenoma/cylindroma of a sweat gland

description: A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative.


name: Anti-phosphatidyl serine antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl serine.


chronic mucocutaneous candidiasis

description: Mucocutaneous candidiasis that is persistent or long-standing in nature.


plasmacytoma

description: Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.


uterine corpus leiomyoma

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


transient ischemic attack

description: A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.


name: Focal necrosis of right ventricular muscle cells


Anti-proteinase 3 antibody positivity

description: The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils


Scarring

description: A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed.


Extractable nuclear antigen positivity

description: The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution.


Single coronary artery origin

description: The presence of a single coronary artery ostium from which both coronary arteries arise.


Spleen hamartoma

description: A hamartomatous lesion (benign focal lesions composed of disorganized tissue elements) localized in the spleen.


Uterine adenofibroma

description: A rare benign mullerian mixed tumor of the uterus composed of benign epithelial and mesenchymal components.


Abnormal renal physiology

description: An abnormal functionality of the kidney.


Abnormal thyroid morphology

description: A structural abnormality of the thyroid gland.


calcinosis

description: Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer.


epidermal appendage tumor

description: A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.


drug dependence

description: Drug dependence - replaced the term "drug addiction" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug.


name: Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole

description: A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature.


endocrine system disorder

description: A disease involving the endocrine system.


name: Benign neoplasm of the central nervous system

description: A neoplasm that arises from the central nervous system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.


name: Focal sensory seizure with gustatory features

description: A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation.


Abnormal left ventricular function

description: Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.


tympanosclerosis

description: The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing.


hyperaldosteronism

description: Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia.


ureteral obstruction

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


tarsal coalition

description: Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).


ainhum

description: Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation.


Neonatal unilateral epileptic spasm

description: Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body.


lymphangiectasis

description: Dilatation of the lymphatic vessels.


subcortical band heterotopia

description: A developmental brain abnormality characterized by atypical migration of neurons during cortical development.


Lhermitte-Duclos disease

description: Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.


disseminated intravascular coagulation

description: A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage.


Abnormal factor VIII activity

description: A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.


mesocardia

description: Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane.


leukodystrophy

description: Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.


Abnormal skin adnexa morphology

description: An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.


inborn mitochondrial myopathy

description: Myopathy caused by mitochondrial abnormalities.


1-2 finger syndactyly

description: Syndactyly with fusion of fingers one and two.


name: Focal aware autonomic seizure with piloerection

description: A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure.


osteoarthritis, knee

description: Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)


medulloepithelioma

description: A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting.


Anti-La/SS-B antibody positivity

description: The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens.


name: Fatty replacement of ventricular myocardial tissue

description: Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue.


retrograde amnesia

description: The loss of access to memories that were previously encoded; this disorder is most commonly preceded by trauma, including physical brain injury, stroke, or seizure, but may also be psychogenic in origin. Memory loss may be temporary or permanent, but the ability to encode new memories or skills is not generally affected.


name: Abnormal morphology of myocardial trabeculae

description: Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae).


Cardiac polyglucosan accumulation

description: Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in myocardial tissue.


Anti-GW182 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GW182.


name: Focal impaired awareness autonomic seizure with erection

description: A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure.


Thyroid agenesis

description: The congenital absence of the thyroid gland.


name: Focal aware cognitive seizure with receptive dysphasia/aphasia

description: A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure.


Oral ulcer

description: Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.


Neoplasm of striated muscle

description: A benign or malignant neoplasm (tumor) originating in striated muscle, either skeletal muscle or cardiac muscle.


Myocardial granulomatous infiltrates

description: The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium.


cerebral cavernous malformation 1

description: A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries.


name: Focal cognitive seizure with forced thinking

description: A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation.


description: Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically.


thyroid hemiagenesis

description: Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


Uhl anomaly

description: Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.


central nervous system malformation

description: An abnormality of the nervous system.


Focal aware bilateral motor seizure

description: A type of focal bilateral motor seizure during which awareness is fully retained throughout.


congenital generalized lipodystrophy

description: An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.


Esophageal web

description: Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare).


name: central nervous system infectious disorder

description: An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis.


Abnormal pulmonary lymphatics

description: An abnormality of the pulmonary lymphatic chain.


palsy

description: A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)


Verrucous cell carcinoma of the tongue

description: A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance.


Truncal obesity

description: Obesity located preferentially in the trunk of the body as opposed to the extremities.


Pulmonary hypertensive crisis

description: Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output.


Atypical absence status epilepticus

description: Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure.


allesthesia

description: A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus.


Bradycardia

description: A slower than normal heart rate (in adults, slower than 60 beats per minute).


Muscular ventricular septal defect

description: The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.


coronary artery disorder

description: Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC)


thrombophilia due to thrombin defect

description: The formation of a blood clot (thrombus) in the lumen of a vein.


thyroid crisis

description: Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone.


deep seated dermatophytosis

description: A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars.


name: Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis

description: A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


name: Focal aware emotional seizure with fear/anxiety/panic

description: Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout.


Calcium oxalate nephrolithiasis

description: The presence of calcium- and oxalate-containing calculi (stones) in the kidneys.


neurofibrosarcoma

description: A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)


Dandy-Walker syndrome

description: Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.


cleft lip/palate

description: Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.


name: Focal aware head nodding automatism seizure

description: A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout.


Hepatic foam cells

description: The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver.


endometritis

description: An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding.


name: Focal impaired awareness autonomic seizure with piloerection

description: A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure.


Pulmonary xanthomatosis

description: Lipid deposits localized within the lung. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.


name: Anomalous origin of right coronary artery from the pulmonary artery

description: Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve.


corpus callosum, agenesis of

description: A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.


Honeycomb lung

description: Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care.


Hypoplasia of right ventricle

description: Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.


flatfoot

description: An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground.


holoprosencephaly 1

description: The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22.


galactorrhea

description: Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia.


tricuspid valve prolapse

description: Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus.


Cor triatrium sinister

description: A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum.


eunuchism

description: The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones.


status epilepticus

description: A life-threatening situation in which the brain is in a continuous state of seizure.


isolated Pierre-Robin syndrome

description: Pierre-Robin syndrome (or Pierre-Robin sequence) is characterized by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.


Abnormal pleura morphology

description: An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.


Anti-H2A antibody positivity

description: The presence of autoantibodies in the blood circulation that react against histone H2A.


5-oxoprolinase deficiency

description: 5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.


Frontal cutaneous lipoma

description: Presence of a cutaneous lipoma on the forehead.


Left unilambdoid synostosis

description: Premature synostosis of only the left lambdoid suture.


abdominal aortic aneurysm

description: Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs.


Anti-laminin gamma1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1.


myelodysplastic syndrome

description: A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)


Embryonal renal neoplasm

description: The presence of an embryonal neoplasm of the kidney that primarily affects children.


Hypoplastic tricuspid valve

description: Congenital defect characterized by underdevelopment of the tricuspid valve.


name: Early progressive calcific cardiac valvular disease


Music-induced seizure

description: Seizure precipitated by listening to music or other complex sounds.


name: Anti-phosphatidic acid antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidic acid.


Antisperm antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against sperm antigens.


hereditary geniospasm

description: Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.


postaxial polydactyly type A

description: Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.


encephalitis

description: An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes.


Anti-p53 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53.


Scheuermann disease

description: A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood.


Anti-HLA-A IgG3 antibody positivity

description: The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A).


Hypoplastic left atrium

description: Underdeveloped, small left heart atrium


Pallidal degeneration

description: Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.


description: Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal).


migraine without aura

description: A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms.


name: Multiple muscular ventricular septal defects

description: A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.


cholesteatoma

description: A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures.


autoimmune hypoparathyroidism

description: An autoimmune form of hypoparathyroidism.


absence of the pulmonary artery

description: A rare vascular anomaly characterized by congenital absence of the right or left pulmonary artery, usually ending within 2 cm of its expected origin from the pulmonary trunk. Patients often also have other cardiovascular abnormalities and respective symptoms and are then typically diagnosed in infancy or childhood, while isolated cases generally present with a mild clinical course and may go undiagnosed until adulthood. Presenting clinical features in isolated cases include hemoptysis, exertional dyspnea, and recurrent respiratory infections. The condition is typically accompanied by marked changes of lung tissue and may, if unrecognized, result in massive hemoptysis and pulmonary hypertension.


name: inherited glutathione synthetase deficiency

description: Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.


phobic disorder

description: An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable.


name: Type 1 congenital pulmonary airway malformation

description: A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst.


brain cancer

description: A primary or metastatic malignant neoplasm affecting the brain.


chronic idiopathic urticaria

description: Chronic form of idiopathic urticaria.


heart septal defect

description: A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum.


Abnormal right ventricle morphology

description: An abnormality of the right ventricle of the heart.


name: atrial septal defect, coronary sinus type

description: A developmental defect in which the coronary sinus fails to form.


Adrenocortical hyperplasia

description: A non-malignant growth, or enlargement, of the adrenal glands, specifically the cortex, although the cortex cannot be definitively identified by conventional imaging. Adrenal cortical hyperplasia is defined radiologically as a non-malignant growth, or enlargement, of the adrenal glands.


Anti-ribosome Po antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ribosome Po.


Anti-thyroid antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against one or more components on the thyroid.


name: Anomalous coronary artery arising from the opposite sinus

description: Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva.


patent ductus arteriosus

description: A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure.


asthma

description: A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.


hyperparathyroidism

description: Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes.


Focal neonatal sequential seizure

description: Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures.


carotid artery dissection

description: Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke.


fibromuscular dysplasia

description: A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation.


bone neoplasm

description: A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage.


Facial hirsutism

description: Excess facial hair.


name: Focal aware cognitive seizure with dysgraphia/agraphia

description: A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure.


amnestic disorder

description: Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories.


Anti-factor VII antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against factor VII.


Straddling atrioventricular valve

description: Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect.


familial dysfibrinogenemia

description: Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.


name: Tetralogy of Fallot with absent subarterial conus


osteoma

description: A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course.


hyperkeratosis lenticularis perstans

description: Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa.


name: Patent ductus arteriosus after premature birth

description: Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation.


monostotic fibrous dysplasia

description: Fibrous dysplasia of bone involving only one bone.


nonsyndromic congenital nail disorder 4

description: Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene.


Focal non-motor seizure

description: A type of focal-onset seizure characterized by non-motor signs or symptoms (or behavior arrest) as its initial semiological manifestation.


mastoiditis

description: Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process.


non-immune hydrops fetalis

description: Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.


diffuse alopecia areata

description: An alopecia areata that involves diffuse loss of hair over the whole scalp.


vitamin A deficiency

description: Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia.


Abnormal skeletal muscle morphology

description: A structural abnormality of a skeletal muscle.


Abnormal respiratory system morphology

description: A structural anomaly of the respiratory system.


progressive myoclonus epilepsy

description: A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system.


name: Focal aware cognitive seizure with memory impairment

description: A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure.


Wilms tumor

description: 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.


xanthinuria

description: A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine.


Gastric neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized in the stomach.