Anti-contactin-1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1.


Focal pedal automatism seizure

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

description: A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.


generalized lipodystrophy

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

description: Almost complete absence of subcutaneous and/or visceral adipose tissue.


name: polymicrogyria, bilateral perisylvian, X-linked

description: A type of perisylvian polymicrogyria that affects both sides of the brain.


bursitis

description: Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin.


twin to twin transfusion syndrome

description: Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated


name: Congenital sensorineural hearing impairment

description: A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.


trigonocephaly 1

description: Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene.


neuritis

description: A neuropathy arising from inflammation of one or more nerves.


renal agenesis, unilateral

description: Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter.


Symptomatic seizures

description: A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed.


Pansynostosis

description: Craniosynostosis of all calvarial sutures.


Perineal hemangioma

description: Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals.


Abdominal aortic dissection

description: A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers.


name: T cell chronic lymphocytic lymphoma/leukemia

description: A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent.


Azotemia

description: An increased concentration of nitrogen compounds in the blood.


Retropharyngeal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx.


Abnormal oral cavity morphology

description: Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.


limited cutaneous systemic sclerosis

description: Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.


Flexion contracture

description: A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.


Abnormality of the abdominal organs

description: An abnormality of the viscera of the abdomen.


Cardiomyocyte degeneration

description: Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris.


Semilobar holoprosencephaly

description: A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.


blue nevus

description: An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative.


Breast intraductal papilloma

description: Intraductal papilloma is a benign tumor found within breast ducts. The abnormal proliferation of ductal epithelial cells causes growth. A solitary intraductal papilloma is usually found centrally posterior to the nipple affecting the central duct. Multiple intraductal papillomas are located peripherally, found in any breast quadrant affecting the peripheral ducts.


xanthomatosis

description: A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells.


Vaginal adenosis

description: Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life.


name: Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions.


C4 nephritic factor positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement.


hereditary gingival fibromatosis

description: Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.


combined immunodeficiency

description: A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.


infertility disorder

description: Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.


name: congenital unilateral hypoplasia of depressor anguli oris

description: Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood).


name: Focal impaired awareness non-motor seizure

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


congenital adrenal hyperplasia

description: Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations, depending of the type and the severity of the disease.


Pulmonary arteriovenous fistulas

description: A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.


Potter sequence

description: A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure.


partial motor epilepsy

description: A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles.


Anti-GM2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2.


polydactyly, postaxial, type A1

description: A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.


midline cervical cleft

description: Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia.


idiopathic anaphylaxis

description: Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.


Acute infectious pneumonia

description: Acute inflammation of the lung due to an infection.


Adenocarcinoma of the intestines

description: A malignant epithelial tumor with a glandular organization that originates in the intestines.


Abnormality of the head

description: An abnormality of the head.


hematologic disorder

description: A disease involving the hematopoietic system.


Anti-ITPR1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1).


endomyocardial fibrosis

description: A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator.


chronic rhinitis

description: Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough.


IgG4 autoimmune antibody positivity

description: The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues.


benign prostatic hyperplasia

description: A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow.


name: Foam cells with lamellar inclusion bodies

description: The presence of foam cells that contain lamellar inclusion bodies.


Carotid paraganglioma

description: A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery.


hypogonadism

description: A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation.


name: Focal impaired awareness epileptic spasm

description: A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure.


solar urticaria

description: Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation.


Neck teratoma

description: A teratoma located in the neck.


Abnormal leukocyte count

description: Number of leukocytes per volume of blood beyond normal limits.


Arterial dissection

description: A separation (dissection) of the layers of an artery.


Abnormality of the mouth

description: An abnormality of the mouth.


name: Prelingual sensorineural hearing impairment

description: A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.


periventricular leukomalacia

description: Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles.


Sebaceous hyperplasia

description: A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elsewhere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola.


congenital pseudoarthrosis of clavicle

description: Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.


meningoencephalocele

description: A congenital abnormality in which the meninges protrude through a defect in the cranium.


Anti-GD1a IgG antibody positivity

description: The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.


Reading-induced seizure

description: A seizure precipitated by reading.


name: Insulin-resistant diabetes mellitus at puberty


1-2 toe syndactyly

description: Syndactyly with fusion of toes one and two.


name: Partial left sided absence of pericardium

description: A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart.


name: Anti-parotid secretory protein antibody positivity

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


name: progressive familial heart block, type 1A

description: An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block.


Vocal cord paralysis

description: A loss of the ability to move the vocal folds.


name: Focal impaired awareness motor seizure with version

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


name: Abnormal cardiovascular system morphology

description: Any structural anomaly of the heart and blood vessels.


name: Focal impaired awareness cognitive seizure with auditory agnosia

description: A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure.


Adrenal calcification

description: Calcification within the adrenal glands.


Salivary gland oncocytoma

description: A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria)


oral cavity neoplasm

description: A neoplasm (disease) that involves the oral cavity.


Anti-periplakin antibody positivity

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


malignant pleural mesothelioma

description: A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive.


ectopia cordis

description: A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations.


cervical vertebral dysplasia

description: Dysplasia of the cervical vertebral column.


description: Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure.


name: congenital high-molecular-weight kininogen deficiency

description: A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.


name: Focal aware autonomic seizure with pallor/flushing

description: A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure.


description: Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired.


name: Abnormality of the pulmonary vasculature


agenesis of cerebral white matter

description: Congenital defect with failure of the development of the cerebral white matter.


name: Right ventricular noncompaction cardiomyopathy

description: A predominantly right ventricular variant of isolated noncompaction cardiomyopathy.


name: Focal motor seizure with dysarthria/anarthria

description: A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible.


name: Focal aware sensory seizure with somatosensory features

description: A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure.


inappropriate ADH syndrome

description: A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body.


sinusitis

description: An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity.


hidradenitis suppurativa

description: A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident.


Abnormality of the intrinsic pathway

description: An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.


bladder diverticulum

description: A pouch or sac-like protrusion in the bladder wall.


ankylosis

description: Fixation and immobility of a joint.


aganglionosis, total intestinal

description: A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. This is an n-of-1 use case where only one patient or family has been described with this disorder.


laryngeal neoplasm

description: A benign or malignant neoplasm involving the larynx.


name: Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries

description: A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA).


Serrated intestinal polyps

description: The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification.


ganglioneuroblastoma

description: A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular.


description: Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography.


Breast hypoplasia

description: Underdevelopment of the breast.


Frontotemporal hypertrichosis

description: Excessive, increased hair growth located in the region of the forehead and temple.


Pituitary spindle cell oncocytoma

description: A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular.


name: Hereditary nonpolyposis colorectal carcinoma


olivopontocerebellar atrophy

description: A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives.


Abnormal skeletal morphology

description: An abnormality of the form, structure, or size of the skeletal system.


Positive direct antiglobulin test

description: A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction.


arthritic joint disease

description: An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain.


Thin myocardium compact layer

description: Reduced thickness of the outer, dense layer of the myocardium.


Recurrent bronchopulmonary infections

description: An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.


Neoplasm of the genitourinary tract

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


latex allergy

description: Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein.


acute myelomonocytic leukemia M4

description: An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001)


leukemia

description: A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years.


bicornuate uterus

description: The presence of a bicornuate uterus.


Focal head nodding automatism seizure

description: A type of focal automatism seizure characterized by involuntary head nodding at onset.


periapical granuloma

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


Olivary degeneration

description: Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata.


Abnormality of the male genitalia

description: Abnormality of the male genital system.


Thoracic ectopia cordis

description: Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum.


brachydactyly type B1

description: Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene.


Diffuse pulmonary lymphoid hyperplasia

description: Diffuse lymphoid hyperplasia (DLH) describes the pathological entity that lies between follicular bronchiolitis and lymphocytic interstitial pneumonia (LIP). It is pathologically characterized by a diffuse peribronchiolar proliferation of hyperplastic lymphoid follicles (BALT), extended along the lymphatics to involve the interlobular septa and pleura. Unlike LIP, DHL does not show uniform involvement of the alveolar septa.


name: congenital non-bullous ichthyosiform erythroderma

description: A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.


coronary stenosis

description: Narrowing of the coronary artery lumen diameter.


1-5 toe syndactyly

description: Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot).


name: Double outlet right ventricle with subpulmonary ventricular septal defect and 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 pulmonary origin. There is 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.


juvenile nasopharyngeal angiofibroma

description: Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures.


Umbilical hernia

description: Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.


name: Anti-glomerular basement membrane-antibody positivity

description: The presence of autoantibodies in the serum that react to the glomerular basement membrane.


Abnormal oral morphology

description: Any structural anomaly of the mouth, which is also known as the oral cavity.


partial atrioventricular canal

description: Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea.


name: Profound sensorineural hearing impairment

description: Complete loss of hearing related to a sensorineural defect.


Elevated pulmonary artery pressure

description: An abnormally elevated blood pressure in the circulation of the pulmonary artery.


Necrotizing encephalopathy

description: A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue.


Myocardial necrosis

description: Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).


Focal aware atonic seizure

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


Anti-type VII collagen antibody

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


Pulmonary situs ambiguus

description: An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same.


Atrial situs ambiguous

description: Common atrium without defining morphologic features.


name: Progressive sensorineural hearing impairment

description: A progressive form of sensorineural hearing impairment.


inherited obesity

description: Abnormally low body weight.


Sertoli cell tumor

description: A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course.


dental caries

description: The decay of a tooth, in which it becomes softened, discolored, and/or porous.


Anti-class I HLA antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class I (A, B, and C).


Focal emotional seizure with agitation

description: Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.


lymphoproliferative syndrome

description: A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis).


Spinal lipoma

description: A lipoma that is localized to the spine.


Anti-BP180 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against BP180.


Focal aware cognitive seizure

description: A focal aware cognitive seizure during which awareness is retained throughout the seizure.


Hydromyelia

description: Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo.


High-frequency hearing impairment

description: A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).


sleep apnea syndrome

description: A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep.


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


Type III atherosclerotic lesion

description: Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions.


name: Adrenocorticotropin deficient adrenal insufficiency

description: Adrenal insufficiency secondary to a defect in ACTH production.


name: Focal emotional seizure with fear/anxiety/panic

description: Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.


name: Non-convulsive status epilepticus with coma

description: A type of status epilepticus without prominent motor symptoms and in the presence of coma.


polyhydramnios

description: An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm.


Ingrown nail

description: Excessive growth of a nail laterally into the nail fold.


arthritis, sacroiliac

description: Inflammation of the sacroiliac joint, generally accompanied by lower back pain.


vulval varices

description: A varicose disease that involves the mammalian vulva.


Hashimoto thyroiditis

description: An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism.


Parietal foramina

description: The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.


name: Abnormal pulmonary alveolar system development


Criss-cross atrioventricular valves

description: Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis.


osteonecrosis

description: A none disease characterized by death of bone tissue due to a lack of blood supply.


name: Malignant neoplasm of the central nervous system

description: A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.


quadriplegia

description: Paralysis of all four limbs.


Abnormality of the dentition

description: Any abnormality of the teeth.


leiomyoma cutis

description: A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


Multiple digital exostoses

description: Multiple exostoses originating in the fingers and toes.


Hyaline membranes

description: Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant plastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult.


Abnormal left atrium morphology

description: Any structural abnormality of the left atrium.


Focal-onset seizure

description: A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.


Focal hemifacial clonic seizure

description: Focal seizure characterized at onset by clonic movements affecting half of the face.


ventricular fibrillation

description: A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)


histidinemia

description: Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.


Pigment gallstones

description: Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.


follicular infundibulum tumor

description: A tumor involving the follicular infundibulum.


acute coronary syndrome

description: Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction.


CNS foam cells

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


Pulmonary bulla

description: Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema.


name: Elevated bronchoalveolar lavage fluid neutrophil proportion

description: Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases.


glossodynia

description: Painful sensations in the tongue, including a sensation of burning.


name: attention deficit hyperactivity disorder, inattentive type

description: A mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual's life.


migraine with aura

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


adrenocortical insufficiency

description: An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency).


name: Focal impaired awareness autonomic seizure with pupillary dilation/constriction

description: A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure.


Connective tissue nevi

description: Connective tissue nevi are hamartomas in which one or several components of the dermis is altered.


Right atrial enlargement

description: Increase in size of the right atrium.


Elevated myocardial native T2

description: Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema.


obstructive hydrocephalus

description: An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space.


glutaric aciduria

description: The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Anti-annexin-V antibody positivity

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


oral hairy leukoplakia

description: An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy.


Congenital defect of the pericardium

description: A developmental defect of the pericardium with congenital onset.


Convulsive status epilepticus

description: A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.


hypopigmentation of the skin

description: A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.


progressive bulbar palsy

description: Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.


Neonatal electro-clinical seizure

description: Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation.


Scapular exostoses

description: The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage.


echolalia

description: A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song.


name: Focal impaired awareness motor seizure with paresis/paralysis

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


hydroa vacciniforme

description: A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas.


Multiple central nervous system lipomas

description: The presence of multiple lipomas located in the central nervous system.


Chylopericardium

description: Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct.


Increased body weight

description: Abnormally increased body weight.


Pulmonary bleb

description: A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura.


saccharopinuria

description: Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.


Multiple biliary hamartomas

description: Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver.


name: Bicuspid aortic valve with left-noncoronary cusp fusion

description: A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure.


femoral agenesis/hypoplasia

description: Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.


Hirsutism

description: Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).


Focal aware epileptic spasm

description: A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure.


Microcolon

description: A colon of abnormally small caliber.


macrodactyly of toes

description: A type of Macrodactyly affecting one or several toes.


Transthyretin cardiac amyloidosis

description: A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.


fourth cranial nerve palsy

description: A cranial nerve palsy that involves the trochlear nerve.


Ureter fissus

description: A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder.


name: Corticotropin-releasing hormone receptor defect

description: Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor.


osteoid osteoma

description: A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare.


pica disease

description: An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development.


Cholesterol gallstones

description: Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color.


humeroradial synostosis

description: Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.


skin tag

description: A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction.


name: Recurrent lower respiratory tract infections

description: An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.


Focal myoclonic seizure

description: A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.


hemarthrosis

description: Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia.


canker sore

description: A type of stomatitis that is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. It is a recurrent disease of the oral mucosa of unknown etiology.


Anti-TRIM46 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46).


Pericardial late gadolinium enhancement

description: Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium.


name: Non-convulsive status epilepticus without coma

description: A type of status epilepticus without prominent motor symptoms in the absence of coma.


name: Anti-bactericidal/permeability-increasing protein antibody positivity

description: The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. BPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies.


Perinephric abscess

description: A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney).


Hypoketotic hypoglycemia

description: A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.


name: Anomalous origin of coronary artery from the pulmonary artery

description: A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta.


Short digit

description: One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.


Anti-LGI1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1).


status asthmaticus

description: An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators.


reading disorder

description: A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process.


Cardiac valve vegetations

description: Endocarditis infection occurs along the edges of the heart valves. Damage to the cardiac endothelium followed by platelet and fibrin deposition results in a sterile lesion known as nonbacterial thrombotic endocarditis (NBTE) or vegetation. Microbes entering the bloodstream via routine or invasive procedures adhere to the vegetation and are engulfed in an outer meshwork of fibrin and platelets. Subsequent rapid microbial multiplication in a protected area of impaired host defense leads to vegetation growth and continuous bacteremia.


name: Abnormal tricuspid chordae tendinae morphology

description: Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve.


trachea neoplasm

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


Abnormal urine pH

description: A deviation of urine pH from the normal range of 4.5 to 7.8.


name: Post-angioplasty coronary artery restenosis


omphalitis

description: Inflammation of the umbilical cord stump in newborns.


Wolff-Parkinson-White syndrome

description: A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes.


juvenile idiopathic arthritis

description: Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases).


name: Focal impaired awareness emotional seizure with laughing

description: Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure.


congenital laryngeal web

description: Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.


thyroid hormone resistance syndrome

description: An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine.


osteoblastoma

description: A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent.


Focal aware behavior arrest seizure

description: A focal behavior arrest seizure characterized by retained awareness throughout the seizure.


Anti-GT1a IgM antibody positivity

description: The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside.


name: Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena

description: A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.


recurrent hypersomnia

description: Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)


name: Anti-phosphatidyl glycerol antibody positivity

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


Tubulonodular pericallosal lipoma

description: A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles.


personality disorder

description: A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work.


Anti-GQ1b IgG antibody positivity

description: The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.


polydactyly of a biphalangeal thumb

description: Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left.


distal symphalangism

description: Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.


cerebellar degeneration

description: Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders.


Secretory adrenocortical adenoma

description: An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones.


Focal tonic seizure

description: A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.


multiple mucosal neuroma

description: Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath.


Focal aware autonomic seizure

description: A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout.


name: Non-restrictive ventricular septal defect

description: Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD.


46,XY disorder of sex development

description: Differences of sex development in individuals with 46,XY karyotype.


pulmonary valve agenesis

description: Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424


name: Anti-endothelin-1 type A receptor antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor.


Pharyngeal myxoma

description: A myxoma (benign, locally infiltrative neoplasms arising from mesenchymal origin) localized to the pharynx.


inherited threoninemia

description: An increased concentration of threonine in the blood.


thoracic aortic aneurysm

description: An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.


Neonatal focal myoclonic seizure

description: Neonatal focal 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) which occurs focally.


name: Sensorimotor polyneuropathy affecting arms more than legs


neuroendocrine neoplasm

description: Endocrine tumors, also referred to as neuroendocrine tumors (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumors may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumors or for a clinical syndrome caused by abnormal hormone secretion).


inborn glycerol kinase deficiency

description: An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity.


name: polyposis of gastric fundus without polyposis coli

description: Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps.


name: Premature coronary artery atherosclerosis

description: Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.


Abnormal direction of ventricular apex

description: Abnormal plane of direction of the heart from the base to the apex. Left sided is normal.


nodular cutaneous amyloidosis

description: Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome.


Lumbosacral hemangioma

description: A spinal cord hemangioma located in the lumbosacral spine region.


Adrenocortical cytomegaly

description: The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.


Phonophobia

description: An abnormally heightened sensitivity to loud sounds.


pituitary tumor

description: A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland.


Polymenorrhea

description: Frequent menses; menstrual cycles lasting less than 21 days.


polymorphic ventricular tachycardia

description: A ventricular tachycardia that is irregular in rate and rhythm.


name: Focal impaired awareness myoclonic seizure

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


fibrous hamartoma of infancy

description: A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern.


name: Focal impaired awareness vocal automatism seizure

description: A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.


erysipelas

description: An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch.


otosclerosis

description: Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs.


ventricular tachycardia

description: A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)


Uterine myxoma

description: A myxoma (tumor of primitive connective tissue) localized to the uterus.


Neonatal electrographic only seizure

description: Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation.


name: Anti-myelin-associated glycoprotein antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG).


gynecomastia disorder

description: Development of breast tissue in males.


name: Bilateral tonic-clonic seizure with focal onset

description: A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.


glycine encephalopathy

description: Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.


name: Double inlet to single ventricle of indeterminate morphology

description: The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle.


prostate calculus

description: A concretion in the prostate.


Urinary hesitancy

description: Difficulty in beginning the process of urination.


optic nerve sheath meningioma

description: A meningioma that affects the sheath of the optic nerve.


name: Abnormal cardiomyocyte dystrophin staining

description: Anomalous staining of dystrophin in cardiomyocytes.


atrophy of testis

description: Loss of testicular volume.


Intradural spinal lipoma

description: Intradural spinal lipoma (ISL) constitutes approximately 1% of all spinal tumors and is usually associated with lumbo-sacral spinal dysraphism. ISLs unassociated with spinal dysraphism are rare with only a few cases being reported in literature. They are seen in children and young adults and are situated on the posterior aspect of the spinal cord in the cervico-thoracic or thoracic regions. They represent intradural, subpial, juxtamedullary lesions.


Macroprolactinoma

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


voice disorders

description: A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis.


Stercoral ulcer

description: An ulcer of the colon due to pressure and irritation from retained fecal masses.


central polydactyly of fingers

description: The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly.


Abnormal internal genitalia

description: An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).


name: Anomalous origin of the left circumflex artery from the right coronary artery

description: An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA).


pustulosis palmaris et plantaris

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


Somatosensory-induced seizure

description: A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise.


Abdominal obesity

description: Excessive fat around the stomach and abdomen.


isolated familial wooly hair disorder

description: Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.


patent foramen ovale

description: A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes.


name: Entrapment neuropathy of the ulnar nerve at elbow

description: An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand.


Vulvar hemangioma

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


pathological gambling

description: A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity.


Neonatal focal tonic seizure

description: Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes.


Pituitary gonadotropic cell adenoma

description: A type of pituitary adenoma that produces gonadotropins.


osteoarthritis, hip

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


atrial standstill

description: Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.


Left atrial fibrosis

description: Atrial fibrosis is an hallmark of atrial structural remodelling, characterized by the aberrant activation, proliferation and differentiation of fibroblasts, and subsequent excessive synthesis and irregular deposition of extracellular matrix proteins.


Abnormality of bone mineral density

description: This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.


progressive osseous heteroplasia

description: A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.


synovitis

description: Inflammation of a synovial membrane.


hypnic headache

description: Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes.


Respiratory infections in early life

description: Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections.


scleroderma

description: Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc).


name: Seizure precipitated by febrile infection

description: Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age.


Hemivertebrae

description: Absence of one half of the vertebral body.


Ketotic hypoglycemia

description: Low blood glucose is accompanied by elevated levels of ketone bodies in the body.


Focal aware pedal automatism seizure

description: A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.


univentricular heart

description: Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.


name: Focal impaired awareness hemiclonic seizure

description: A focal hemiclonic seizure in which awareness is impaired at some point during the seizure.


isolated sulfite oxidase deficiency

description: Abnormally reduced sulfite oxidase level.


name: Absent bronchoalveolar surfactant-protein C

description: Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseases, pathogenetically related to the alveolar surfactant region.


Anti-Ro/SS-A antibody positivity

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


hypertrophic cardiomyopathy 1

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.


name: Irregular septal thickening on pulmonary HRCT

description: Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture.


hypersplenism

description: Overactive functioning of the spleen, resulting in excessive destruction of blood cells.


description: The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210.


Abnormality of joint mobility

description: An abnormality in the range and ease of motion of joints across their normal range.


Cardiac rhabdoid tumor

description: A rare and aggressive neoplasms developing mainly in the kidney but also in cerebral and extra-cerebral tissues and rarely in the heart. Histologically, rhabdoid renal and extrarenal tumors share common characteristics. The cells are polygonal, with eccentric, vesicular nuclei and prominent nucleoli, eosinophilic cytoplasmic inclusions. The tumors have an infiltrative growth pattern, necrosis, and high proliferative index. The immunohistochemistry tools of investigation facilitate differential diagnosis by showing loss of INI-1 expression, usually accompanied by germline mutations of the SMARCB1 gene. When INI-1 is still expressed in the affected tissues, a rhabdoid tumor with SMARCA4 mutations should be considered.


Unilambdoid synostosis

description: Premature synostosis of only one lambdoid suture.


Typical absence seizure

description: A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.


primary hyperoxaluria

description: A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria.


Anti-Sj/ITPR1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor.


selective IgG immunodeficiency

description: A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity.


REM sleep behavior disorder

description: A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393)


Cutis marmorata

description: A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.


Subcutaneous lipoma

description: The presence of subcutaneous lipoma.


Class II obesity

description: Obesity with a body mass index of 35 to 39.9 kg per square meter.


Bilateral trilobed lung

description: Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes.


Placental infarction

description: Interruption of the blood supply to a portion of the placenta, resulting in ischemic necrosis.


1-3 toe syndactyly

description: Syndactyly with fusion of toes one to three.


tetralogy of fallot

description: Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.


skin vascular disease

description: A disease that involves the superficial vasculature.


name: celiac artery stenosis from compression by median arcuate ligament of diaphragm

description: A vascular compression syndrome attributed to celiac trunk compression by the median arcuate ligament of the diaphragm, with presentations ranging from completely asymptomatic to myriad gastrointestinal symptoms, including chronic abdominal pain (CAP), post-prandial pain, nausea and vomiting, anorexia, early satiety, and subsequently weight loss.


name: Focal aware autonomic seizure with erection

description: A focal autonomic seizure with erection characterized by retained awareness throughout the seizure.


synovial sarcoma

description: Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).


Focal manual automatism seizure

description: A type of focal automatism seizure characterized by manual automatisms at onset.


infantile digital fibromatosis

description: A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions.


lytic metastatic bone lesion

description: Dissolution of bone that particularly involves the removal or loss of calcium.


choreatic disease

description: A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease.


Anti-GM4 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM4.


Complex febrile seizure

description: A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period.


angular cheilitis

description: Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts.


name: Abnormal circulating calcium concentration

description: Any deviation from the normal concentration of calcium in the blood circulation.


Centrilobular emphysema

description: A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones.


Abnormal thorax morphology

description: Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).


Abnormal cardiac ventricle morphology

description: An abnormality of a cardiac ventricle.


laurin-Sandrow syndrome

description: Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.


Pulmonary pneumatocele

description: A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung.


Legg-Calve-Perthes disease

description: A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible.


Displacement of the papillary muscles

description: Abnormal location of the insertion of a papillary muscle into the left ventricular wall.


adenoiditis

description: An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil.


chondrosarcoma

description: A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion.


cannabis dependence

description: Physical and psychological dependence on the drug cannabis.


name: Anti-human ferritin peptide antibody positivity

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


Focal aware seizure

description: A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.


name: Congenitally corrected transposition of the great arteries with ventricular septal defect

description: A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum.


spinal cord neoplasm

description: A neoplasm (disease) that involves the spinal cord.


Osseous syndactyly of toes

description: Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".


name: hereditary thrombophilia due to congenital protein C deficiency

description: Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.


cerebral infarction

description: An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries.


neoplasm of jaw

description: A neoplasm (disease) that involves the jaw skeleton.


intellectual disability

description: A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.


Epileptic encephalopathy

description: A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.


name: hyperphenylalaninemia due to tetrahydrobiopterin deficiency

description: Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.


hypersensitivity vasculitis

description: A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer.


Recurrent vulvovaginal candidiasis

description: Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.


Generalized clonic seizure

description: Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.


ganglioglioma

description: A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)


Pancreatic islet cell adenoma

description: The presence of an adenoma of the pancreas with origin in a pancreatic B cell.


BCGosis

description: Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.


basal ganglia disorder

description: A disease involving the basal ganglia.


Munchausen by proxy

description: A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.


Poroma

description: A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273].


Exogenous lipoid pneumonia

description: A type of lipoid pneumonia in which the source of the lipids is external to the body.


sarcoma

description: A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.


Abnormal pulmonary fissure architecture

description: An abnormal form or location of a pulmonary fissure.


nasopharyngeal neoplasm

description: A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma.


gamma-heavy chain disease

description: Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.


lactic acidosis

description: Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia.


kleptomania

description: A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft.


name: Type 3 congenital pulmonary airway malformation

description: A type of congenital pulmonary airway malformation that is characterized by a bulky firm mass with an adenomatoid appearance.


Increased myocardial glycogen content

description: Elevated amount of glycogen in the myocardium.


Quadricuspid aortic valve

description: The presence of an aortic valve with four instead of the normal three cusps (flaps).


name: Recurrent acute respiratory tract infection

description: A history of repeated acute infections of the upper or lower respiratory tract.


name: Focal aware emotional seizure with anger

description: Focal emotional seizure with anger in which awareness is retained throughout.


Brown pigment gallstones

description: A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones.


platelet aggregation, spontaneous

description: Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation.


Interlobular septal thickening

description: Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.


Focal impaired awareness motor seizure

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


Transient psychotic episodes

description: Relatively short-lived periods of psychosis are characterized by the sudden onset of severe disturbances in perception, thinking, and behavior. These episodes typically last for a brief duration, generally ranging from a few days to a few weeks, and are often triggered by a significant stressor or traumatic event.


Pulmonary situs inversus

description: Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus.


Ureteral duplication

description: A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.


Dilatation of the tricuspid annulus

description: An increase in the diameter of the ring (annulus) of the tricuspid valve.


Unroofed coronary sinus

description: Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion.


name: Apical muscular ventricular septal defect

description: A muscular ventricular septal defect located at the apex of the heart.