Air bronchogram

description: An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma).


Air trapping

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

description: Air trapping is retention of air in the lung distal to an obstruction (usually partial). Air trapping is seen on end-expiration CT scans as parenchymal areas with less than normal increase in attenuation and lack of volume reduction. Comparison between inspiratory and expiratory CT scans can be helpful when air trapping is subtle or diffuse.


name: Diminished health-related quality of life

description: A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles.


Diminished physical functioning

description: A reduction in the ability to perform activities of daily living as compared to previous abilities because of functional deficits due to illness. The 36-item Short Form (SF-36) health survey questionnaire is one of many methods used to measure patients' perceptions of diminished physical functioning.


Diminished mental health

description: A reduction in the subjective feeling of mental well being.


Abnormal amygdala morphology

description: A structural anomaly of the amygdala.


Enlarged amygdala

description: A increase in the volume (size) of the amygdyla.


Organizing pneumonia

description: Organizing pneumonia manifests as a histologic pattern characterized by loose plugs of connective tissue in the airspaces and distal airways. Interstitial inflammation and fibrosis are minimal or absent. Cryptogenic organizing pneumonia, or COP, is a distinctive clinical disorder among the idiopathic interstitial pneumonias, but the histologic pattern of organizing pneumonia is encountered in many different situations, including pulmonary infection, hypersensitivity pneumonitis, and collagen vascular diseases. Airspace consolidation is the cardinal feature of organizing pneumonia on chest radiographs and CT scans. In COP, the distribution is typically subpleural and basal and sometimes bronchocentric. Other manifestations of organizing pneumonia include groundglass opacity, tree-in-bud pattern, and nodular opacities.


Pulmonary oligemia

description: Oligemia is a reduction in pulmonary blood volume. Most frequently, this reduction is regional, but occasionally it is generalized. Regional oligemia is usually associated with reduced blood flow in the oligemic area. Oligemia appears as a regional or widespread decrease in the size and number of identifiable pulmonary vessels, which is indicative of less than normal blood flow.


Positive carpal Tinel sign

description: The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve.


Positive Phalen test

description: The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger).


Pulmonary blood flow redistribution

description: Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung.


Frailty

description: A clinically recognizable state of increased vulnerability resulting from a decline in reserve and function across multiple physiologic systems such that the ability to cope with everyday or acute stressors is compromised.


Acute respiratory distress syndrome

description: Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300.


Abnormal red nucleus morphology

description: Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement.


Jaw hyperreflexia

description: Increased intensity of muscle tendon reflexes in jaw.


Abnormal muscle fiber-type distribution

description: Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types


Fiber type grouping

description: An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type.


Mitochondrial hypertrophy

description: Enlargment of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM.


Short term memory impairment

description: A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds).


Long term memory impairment

description: A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that).


Procedural memory loss

description: A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument.


Declarative memory loss

description: Impaired ability to remember facts and events.


Phantosmia

description: Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor.


Tactile hallucination

description: Perception of touch without a tactile stimulus.


Occupational disability

description: This is a general term that denotes a reduced ability to perform the work that one performed prior to an illness, and may be related to pain, cognitive dysfunction, fatigue or other physical disabilities.


Pseudo-chilblain

description: Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet.


Vesicular eruption

description: A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic.


Monomorphic vesicular eruption

description: A type of vesicular eruption in which the vesicles are at same stages.


Polymorphic vesicular eruption

description: A type of vesicular eruption in which the vesicles are at different stages.


Papulovesicular eruption

description: An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point.


Cortical sclerosis of the iliac wing

description: Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing.


Subpleural curvilinear line

description: This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present).


Elevated urinary homogentisic acid

description: An increased amount of homogentisic acid in the urine.


Tearfulness

description: A feeling of sadness characterized by episodes of crying that can occur suddenly and are not easily controlled in social situations.


Progressive massive fibrosis

description: This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in the upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis.


Perioral hyperkeratosis

description: Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth.


name: Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity


Increased sputum production

description: An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway).


Rest dyspnea

description: A perception of shortness of breath that occurs independently of exertion.


Pulmonary interstitial thickening

description: Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening.


Repeated implantation failure

description: Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles.


name: Anti-signal recognition particle antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle.


Multiple meningiomas

description: The occurrence of multiple distinct meningiomas in the same individual.


Hippocampal sclerosis

description: Hippocampal sclerosis is a neuropathologic finding characterized by neuronal loss and gliosis in the CA-1 and subiculum of the hippocampus.


name: EEG with frontal epileptiform discharges

description: Focal epileptiform EEG discharges recorded in the frontal region.


name: EEG with temporal epileptiform discharges

description: Focal epileptiform EEG discharges recorded in the temporal region.


name: EEG with central epileptiform discharges

description: Focal epileptiform EEG discharges recorded in the central region.


name: EEG with parietal epileptiform discharges

description: Focal epileptiform EEG discharges recorded in the parietal region.


name: EEG with occipital epileptiform discharges

description: Focal epileptiform EEG discharges recorded in the occipital region.


name: EEG with centrotemporal epileptiform discharges

description: Focal epileptiform EEG discharges recorded in the centrotemporal region.


Autonomic epileptic aura

description: An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region.


name: Abnormal cerebral venous sinus morphology

description: Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins.


Cerebral venous sinus thrombosis

description: An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses.


Thin corpus callosum

description: An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).


Diffuse lupus nephritis

description: A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations.


Mesangial proliferative lupus nephritis

description: A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy.


Minimal mesangial lupus nephritis

description: A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence.


Membranous lupus nephritis

description: A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis


Focal lupus nephritis

description: A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations


Advanced sclerotic lupus nephritis

description: A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity.


Low-grade vesicoureteral reflux

description: Vesicoureteral reflux without dilation of the renal calyces (Grade I-II).


High-grade vesicoureteral reflux

description: Vesicoureteral reflux with dilation of the renal calyces (Grade III - V).


Grade I vesicoureteral reflux

description: Vesicoureteral reflux into the ureter only.


Grade II vesicoureteral reflux

description: Vesicoureteral reflux into a non-dilated pyelocalyceal system.


Grade III vesicoureteral reflux

description: Vesicoureteral reflux with dilatation of the collecting system.


Primary vesicoureteral reflux

description: Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction.


Secondary vesicoureteral reflux

description: Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction.


Grade V vesicoureteral reflux

description: Vesicoureteral reflux with massive dilation of the collecting system and severe tortuosity of the ureter.


Grade IV vesicoureteral reflux

description: Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter.


Intrarenal reflux

description: Severe vesicoureteral reflux reaching the kidney parenchyma.


Macular agenesis

description: A congenital defect characterized by lack of development of the macula.


Global cerebellar dysplasia

description: A type of cerebellar dysplasia that affects the entire cerebellum.


name: Dysplasia of the superior cerebellar vermis

description: A type of cerebellar dysplasia that affects the upper part of the cerebellar vermis.


Intrascapular pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the area between the shoulder blades.


Abnormal exteroceptive sensation

description: A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes.


Hypoesthesia

description: Decreased ability to perceive touch.


Abnormal functional residual capacity

description: A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation.


Reduced functional residual capacity

description: An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation.


Elevated functional residual capacity

description: An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation.


Abnormal residual volume

description: Any deviation from normal values of the residual volume, which is defined as the volume of air left in the lungs at the end of maximal expiration (ie. the volume of air which you cannot voluntarily exhale from your lungs).


Reduced residual volume

description: Abnormal decrease in the amount of air remaining in a person's lungs after full exhalation.


name: Abnormal left ventricular end-diastolic volume

description: Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole).


name: Increased left ventricular end-diastolic volume

description: Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole).


name: Decreased left ventricular end-diastolic volume

description: Abnormally low volume of blood in the left ventricle at the end of diastole (just before systole).


Pancreatic steatosis

description: Fat infiltration in the pancreas.


Labial abscess

description: A circumscribed area of pus or necrotic debris in the labia.


name: Impaired renal tubular reabsorption of magnesium

description: Decreased renal tubular reabsorption of magnesium.


Decreased maximal oxygen uptake

description: Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill anad ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload.


Death in adulthood

description: Cessation of life at the age of 16 years or later.


Death in middle age

description: Death between the age of 40 and 60 years.


Death in late adulthood

description: Death at an age of at least 60 years.


Polymelia

description: Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis).


name: Abnormal single motor unit action potential

description: Abnormally high or low single motor unit action potential reading (-Pk Amps).


Penile thrush

description: Overgrowth of candida albicans in the penis.


Pleuritic chest pain

description: Pleuritic chest pain is characterized by sudden and intense sharp, stabbing, or burning pain in the chest when inhaling and exhaling.


Abnormal RV/TLC ratio

description: Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography.


Decreased RV/TLC ratio

description: An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography.


name: Impaired renal tubular reabsorption of uric acid

description: Decreased renal tubular reabsorption of uric acid.


Pulmonary imaging sign

description: An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images.


Enamel pearls

description: Small nodules of enamel on the root of a tooth.


Supernumerary cusp

description: Additional cusps of a dental crown.


Leung cusp

description: An additional cusp located in the middle of the occlusal surface.


Barrel-shaped tooth

description: A tooth crown with convex mesial and distal surfaces.


Bulbous tooth

description: A tooth crown with a marked cervical area constriction.


Tapered tooth

description: A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors.


Semilunar tooth

description: An incisor with a half-moon shape incisal edge.


Molar incisor malformation

description: Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars.


Dentin dysplasia

description: This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications.


Enamel agenesis

description: Complete or almost complete absence of enamel.


Hypomature enamel

description: Enamel with a white or brown discoloration without hypoplasia.


Cementum hypoplasia

description: The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth.


Thistle tube shaped pulp

description: A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations.


Cross bite

description: Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth.


Acral overgrowth

description: Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargment, glove tightness, and hand enlargement.


Abnormal leukocyte physiology

description: A functional abnormality of a white blood cell.


Leukocyte migration defect

description: Any abnormality of leukocyte motility in response to chemokines, which is required for the inflammatory response to infections, and for organ development, tissues homeostasis, and vascularization.


Impaired leukocyte adhesion

description: During states of inflammation, white blood cells (leukocytes) play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. This term refers to a defect in the attachment of leukocytes to the blood vessel wall, which is a key step required before they can pass through gaps of the endothelial cells of the blood vessel wall to migrate to the site of inflammation.


name: Abnormal circulating sex hormone concentration

description: Any deviation from the normal concentration of a sex hormone in the blood circulation


Blistering by anatomical location

description: Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur.


Blistering by histological location

description: Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa.


Intra-epidermal blistering

description: A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells.


Sub-lamina densa cleavage

description: A type of blistering in which the cleavage plane of blisters is located below the lamina densa.


Subepidermal blistering

description: A type of blistering in which the lesions are located beneath the epidermis.


Non-necrotizing granuloma

description: A granuloma which is not associated with necrotic changes.


name: Abnormal epidermis stratum granulosum morphology

description: An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum.


Absent keratohyalin granules

description: Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin.


Spermatocele

description: A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily.


name: Increased circulating 17 hydroxypregnenolone concentration

description: Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids.


name: Decreased circulating dihydrotestosterone concentration

description: A reduced concentration of dihydrotestosterone in the blood circulation.


name: Abnormal circulating androstenedione concentration

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


name: Decreased circulating androstenedione concentration

description: Reduced concentration of androstenedione in the blood circulation.


Pulmonary mass

description: A mass in the lung seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).


Mass on thoracic imaging

description: A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features.


Mediastinal mass

description: A mass in the mediastinum seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).


Pleural mass

description: A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).


Superior mediastinal mass

description: A type of mediastinal mass that is located above the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4).


Inferior mediastinal mass

description: A type of mediastinal mass that is located below the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4).


Anterior mediastinal mass

description: A type of inferior mediastinal mass that is located in front of the pericardium.


Middle mediastinal mass

description: A type of inferior mediastinal mass that is located withinthe pericardium.


Posterior mediastinal mass

description: A type of inferior mediastinal mass that is located behind the pericardium.


Hyperdense pulmonary mass

description: A type of pulmonary mass with high attenuation.


Cavitating pulmonary mass

description: Thick-walled abnormal gas-filled interstitial mass within a lung with a diameter greater than 30 mm.


Livedo

description: A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels.


name: Elevated circulating soluble CD25 concentration

description: Increased concentration of the interleukin-2 receptor alpha-chain (CD25) in the blood circulation. CD25 is shed upon immune activation. Increased levels of soluble CD25, therefore, are an indication of an on-going immune response.


Malaise

description: A feeling of general discomfort, weakness, or lack of health.


Abnormal renal vascular morphology

description: Anomalous structure of a blood vessel in the kidney.


Abnormal intrarenal artery morphology

description: An anomalous structure of an artery located in the kidney.


Abnormal arcuate artery morphology

description: Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla.


Dysphoria

description: A state of feeling very unhappy, uneasy, or dissatisfied.


Testicular pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to one or both testes.


Postmenopausal bleeding

description: Uterine bleeding that occurs after at least one year of amenorrhea in a woman who is not receiving hormone therapy.


Ocular pruritus

description: Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching in the region of the eye.


Early satiety

description: The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food.


Postprandial fullness

description: Feeling excessively full after meals.


Tachyphrenia

description: The sensation that thoughts are moving too quickly.


Sense of impending doom

description: A feeling that something life-threatening or tragic is about to occur.


Spinal hypomyelination

description: Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis.


Phantageusia

description: A form of altered taste sensation in which the affected person perceives a taste, usually an unpleasant one, in the absence of a corresponding stimulus in the environment.


Receptive aphasia

description: A type of aphasia that is characterized by impaired language comprehension.


Bilingual aphasia

description: The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages.


Coldness

description: Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness.


Oculomotor synkinesis

description: Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction.


Abnormal intrarenal vein morphology

description: Abnormal structure of a vein located inside the kidney parenchyma.


Abnormal arcuate vein morphology

description: Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla).


Abnormal interlobular vein morphology

description: Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct).


name: Abnormal interlobular vein lumen morphology

description: Any structural anomaly located in the the inside space of the interlobular veins of the kidney.


name: Cholesterol emboli within interlobular vein lumen

description: Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


name: Intraluminal thrombi within interlobular veins

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney.


name: Organized thrombi within interlobular vein lumen

description: Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney.


name: Abnormal peritubular capillary morphology

description: Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule,


name: Abnormal cortical peritubular capillary morphology

description: Anomalous structure of the peritubular capillaries located in the cortex of the kidney.


name: Multilamellation of cortical peritubular capillary basement membranes

description: Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers.


Cortical peritubular capillaritis

description: Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells.


name: Abnormal cortical peritubular capillary lumen morphology

description: Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney.


name: Abnormal medullary peritubular capillary morphology

description: Anomalous structure of the peritubular capillaries located in the medulla of the kidney.


Medullary peritubular capillaritis

description: Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells.


name: Medullary peritubular capillary erythrocyte congestion

description: Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open).


name: Multilamellation of medullary peritubular capillary basement membranes

description: Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers.


name: Abnormal medullary peritubular capillary lumen morphology

description: Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney.


name: Medullary peritubular capillary lumen cholesterol emboli

description: Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


name: Medullary peritubular capillary intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney.


name: Medullary peritubular capillary lumen organized thrombi

description: Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney.


name: Cortical peritubular capillary lumen cholesterol emboli

description: Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


name: Cortical peritubular capillary intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney.


name: Cortical peritubular capillary lumen organized thrombi

description: Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney.


Abnormal arcuate vein lumen morphology

description: Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney.


Arcuate vein lumen cholesterol emboli

description: Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


Arcuate vein intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney.


Arcuate vein lumen organized thrombi

description: Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney.


name: Abnormal arcuate vein intima/media morphology

description: Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney.


Arcuate vein intimal mucoid edema

description: Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining.


name: Arcuate vein intimal/medial myxomatous degeneration

description: Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney.


Arcuate vein intima/medial amyloidosis

description: Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.


name: Abnormal cortical radial artery morphology

description: Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney.


name: Abnormal cortical radial artery lumen morphology

description: Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney.


name: Cortical radial artery lumen cholesterol emboli

description: Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


name: Abnormal arcuate artery intima/media morphology

description: Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla.


name: Cortical radial artery intimal/medial amyloidosis

description: Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy


name: Abnormal cortical radial artery intima/media morphology

description: Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney.


Abnormal renal arteriole morphology

description: Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents.


name: Abnormal renal arteriole lumen morphology

description: Abnormal structural characteristics of the interior space (lumen) of renal arterioles.


name: Renal arteriolar lumen cholesterol emboli

description: Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


name: Abnormal renal arteriole intima/media morphology

description: Any structural anomaly located in the inner or middle layer of the arterioles of the kidney.


name: Renal arteriolar lumen organized thrombi

description: Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney.


Renal arteriolar intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney.


name: Abnormal renal arteriole endothelium morphology

description: Any structural anomaly of the lining (endothelium) of the arterioles of the kidney.


name: Abnormal arcuate artery lumen morphology

description: Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney.


Arcuate artery lumen cholesterol emboli

description: Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


Arcuate artery intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney.


Arcuate artery lumen organized thrombi

description: Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney.


name: Renal arteriole intima/media amyloidosis

description: Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.


name: Abnormal arcuate artery endothelium morphology

description: Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney.


Arcuate artery endotheliosis

description: Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling.


name: Arcuate artery endoarterial hypercellularity

description: Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney.


Renal arteriole intima/media hyalinosis

description: Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis.


name: Arcuate artery intima/media arteriosclerosis

description: Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina.


Renal intimal/medial arteriolitis

description: Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural.


name: Renal arteriole intima/media arteriolosclerosis

description: Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina.


Renal arteriole medial atrophy

description: Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney.


Arcuate vein medial hypertrophy

description: Increased thickness of middle layer of the arcuate veins of the kidney.


Arcuate vein medial atrophy

description: Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney.


name: Cortical radial artery medial hypertrophy

description: Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.


Cortical radial artery medial atrophy

description: Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.


name: Cortical radial artery medial/intimal arteriitis

description: Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney.


Arcuate artery intima/media amyloidosis

description: Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.


Arcuate artery intimal mucoid edema

description: Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining.


Medial/intimal arcuate venosclerosis

description: Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins.


Arcuate intimal/medial venulitis

description: Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural.


Renal arteriole medial hypertrophy

description: Increased thickness of middle layer of the arterioles of the kidney.


name: Renal arteriole intima/media storage material accumulation

description: Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney.


name: Renal arteriole endoarterial hypercellularity

description: Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney.


name: Renal arteriole leukocytic endoarterial hypercellularity

description: A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes).


name: Renal arteriole foam cell endoarterial hypercellularity

description: A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.


name: Renal arteriole neutrophil endoarterial hypercellularity

description: A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen.


name: Renal arteriole lymphocyte endoarterial hypercellularity

description: A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen.


name: Renal arteriole intimal/medial multilamellation

description: Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney.


name: Arcuate artery endoarterial leukocyte hypercellularity

description: Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).


name: Arcuate artery endoarterial foam cell hypercellularity

description: A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.


name: Arcuate artery endoarterial neutrophil hypercellularity

description: A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery.


name: Arcuate artery endoarterial lymphocyte hypercellularity

description: A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery.


Arcuate artery intima/media necrosis

description: Death of tissue in the inner or middle layer of the arcuate artery of the kidney.


name: Arcuate artery intima/media coagulative necrosis

description: A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures.


name: Arcuate artery intima/media liquefactive necrosis

description: A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.


name: Arcuate vein intimal/medial storage material accumulation

description: Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney.


name: Cortical radial artery intima/media necrosis

description: Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.


name: Cortical radial artery intima/media liquefactive necrosis

description: A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.


name: Cortical radial artery intima/media coagulative necrosis

description: A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.


Renal arteriole intima/media necrosis

description: Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney.


name: Renal arteriole intima/media liquefactive necrosis

description: A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.


name: Renal arteriole intima/media coagulative necrosis

description: A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.


name: Granulomatous arteriolitis of the arteriolar intima/media

description: A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.


Arcuate vein medial/intimal necrosis

description: Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney.


name: Arcuate vein medial/intimal coagulative necrosis

description: A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.


name: Arcuate vein medial/intimal liquefactive necrosis

description: A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.


name: Arcuate intimal/medial granulomatous venulitis

description: A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins.


name: Arcuate vein intima/media crystal accumulation

description: Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney.


name: Renal arteriole intima/media crystal accumulation

description: Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney.


Arcuate artery intima/media arteriitis

description: Inflammation of the inner or middle layer of the arcuate arteries of the kidney.


name: Arcuate artery intima/media granulomatous arteriitis

description: A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.


name: Cortical radial artery intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney.


name: Cortical radial artery intraluminal organized thrombi

description: Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney.


name: Abnormal cortical radial artery endothelium morphology

description: Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney.


Cortical radial artery endotheliosis

description: Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling.


Cortical radial artery hypercellularity

description: Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney.


name: Cortical radial artery leukocyte hypercellularity

description: A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).


name: Cortical radial artery lymphocyte hypercellularity

description: A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries.


name: Cortical radial artery neutrophil hypercellularity

description: A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries.


name: Cortical radial artery foam cell hypercellularity

description: A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney.


name: Cortical radial artery intima/media arteriosclerosis

description: Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina.


name: Cortical radial artery intimal mucoid edema

description: Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.


name: Cortical radial artery intima/media multilamellation

description: Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers.


name: Cortical radial artery medial/intimal granulomatous arteriitis

description: A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.


name: Abnormal interlobular vein intima/media morphology

description: Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney.


Interlobular intima/media venosclerosis

description: Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney.


Interlobular vein intimal mucoid edema

description: Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.


name: Interlobular vein intima/media amyloidosis

description: Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy


name: Interlobular vein intima/media venulitis

description: Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural.


name: Interlobular vein intima/media granulomatous venulitis

description: A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins.


Interlobular vein intima/media necrosis

description: Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney.


name: Interlobular vein intima/media liquefactive necrosis

description: A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.


name: Interlobular vein intima/media coagulative necrosis

description: A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.


Interlobular vein medial atrophy

description: Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney.


Interlobular vein medial hypertrophy

description: Increased thickness of middle layer of the interlobular veins of the kidney.


name: Interlobular vein intima/media multilamellation

description: Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers.


Absent second fingernail

description: Absence of the fingernail of the index (second) finger.


Volar fingernail

description: The presence of an extra nail on the palmar (volar, ventral) surface of the finger.


Talar aplasia

description: Absent talus owing to a congenital defect.


Reduced beta-hexosaminidase activity

description: Diminished activity of the enzyme beta-hexosaminidase in the blood circulation.


Excessive dynamic airway collapse

description: Excessive anterior displacement of the tracheal and/or bronchial membranous wall.


Paroxysmal tonic upgaze

description: Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness.


Vertebral artery tortuosity

description: Abnormal tortuous (i.e., twisted) form of the vertebral arteries.


Celiac artery dissection

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


name: Decreased circulating apolipoprotein C-II concentration

description: Reduced concentration of apolipoprotein C-II in the blood circulation.


name: Increased urinary 8-oxo-7,8-dihydroguanosine level

description: An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine.


Elongated femoral neck

description: Increased length of the neck of the femur.


Tortuous lymphatic vessels

description: The presence of an increased number of twists and turns of lymphatic vessels.


Amygdala microinfarct

description: An infarct located in the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe that can only be observed microscopically.


Hippocampal microinfarct

description: An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically.


Cartilaginous tracheobronchomalacia

description: Softening of the tracheal and/or bronchial cartilage resulting in segmental tracheal and/or bronchial weakness.


Vasa previa

description: Vasa previa occurs when the membranes that contain the umbilical cord traverse the membranes overlying the internal os of the cervix. There is a high risk of fetal mortality if not identified perinatally.


Chronotropic incompetence

description: Inability of the heart to increase its rate commensurate with increased activity or demand.


Dependency on parenteral nutrition

description: Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition.


Microvillus inclusions

description: The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes.


name: Microvillar PAS-positive secretory granules

description: The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures.


Perinuclear cardiomyocyte vacuolization

description: Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart.


Single-lobed right lung

description: A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes.


Bronchial hemorrhage

description: Bronchial hemorrhage is a focal bleeding located in the bronchial system. It can be diagnosed by tracheobronchoscopy.


Tracheal hemorrhage

description: Tracheal hemorrhage is a focal bleeding within the trachea. It be diagnosed by tracheobronchoscopy.


name: Anti-Complement factor H antibody positivity

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


name: Anti-phospholipase A2 receptor antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor.


Broad medial eyebrow

description: Regional increase in the width (height) of the middle portion of the eyebrow.


Parosmia

description: Misperception of existing odor, that is, distorted or altered olfactory perception in the presence of known stimuli.


Decreased dendritic spine number

description: An abnormal reduction in the amount of spines on a given dendrite.


name: Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio

description: A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation.


Posterior atrophy of corpus callosum

description: The presence of atrophy (wasting) of the posterior portion of the corpus callosum.


Opto-chiasmatic atrophy

description: Wasting (atrophy) of the optic chiasm.


name: Increased megakaryocyte colony forming unit count

description: Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow.


Reduced progressive sperm motility

description: A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion.


Palmoplantar hypohidrosis

description: Decreased sweating on the palms and soles.


Curvilinear pericallosal lipoma

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


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.


Cavitating pulmonary nodule

description: Thick-walled abnormal gas-filled interstitial nodule within a lung.


Anti-HLA antibody positivity

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


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).


Anti-class II HLA antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class II human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR).


Anti-HLA-A antibody positivity

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


Anti-HLA-A IgG1 antibody positivity

description: The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A).


Anti-HLA-A IgG3 antibody positivity

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


Anti-HLA-B antibody positivity

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


Anti-HLA-B IgG1 antibody positivity

description: The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B).


Anti-HLA-B IgG3 antibody positivity

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


Abnormal circulating GABA concentration

description: Any deviation from the normal concentration of gamma-aminobutyric acid (GABA) in the blood circulation.


name: Elevated circulating saccharopine concentration

description: An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine.


name: Abnormal urinary non-proteinogenic amino acid level

description: Any deviation from the normal amount in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.


Hepatic foam cells

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


Lip cyanosis

description: Bluish discoloration of the lips.


Facial cyanosis

description: Bluish discoloration of one or more regions of the face.


Central cyanosis

description: Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin.


Peripheral cyanosis

description: Bluish discoloration of the distal extremities (hands, fingertips, toes), and can sometimes involve circumoral and periorbital areas. Mucous membranes are generally not involved.


Differential cyanosis

description: Differential degree of bluish discoloration between the upper and lower extremities.


Pharyngeal exudate

description: Fluid exuded from the posterior wall of the pharynx.


Pseudo-chilblains on toes

description: Inflammatory chilblain-like nodules on the feet and/or toes.


Pseudo-chilblains on fingers

description: Inflammatory chilblain-like nodules on the hands and/or fingers.


Silent hypoxemia

description: Abnormally low blood oxygen level without the presence of dyspnea.


Ventricular couplet

description: Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats.


Dorsal hirsutism

description: Abnormally increased hair growth in the lskin of the back.


Increased fecal bile acid

description: Elevated amount of bile acids in the feces.


Trident pelvis

description: Spurs at the medial and lateral acetabular margin and in the center of the acetabulum gives rise to shape resembling a three-pronged spear known as trident.


Angulated muscle fibers

description: Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip.


Mandibular osteolysis

description: Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to the mandible.


Rib osteolysis

description: Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib.


name: Decreased circulating chenodeoxycholic acid concentration

description: A reduced concentration of chenodeoxycholic acid in the blood circulation.


Elevated urinary prostaglandin E2 level

description: An increased amount of prostaglandin E2 in the urine.


name: Elevated urinary prostaglandin E2 metabolite level

description: An increased amount of prostaglandin E2 metabolite (PGE-M) in the urine.


name: Hypoplastic anterior limbs of the internal capsule

description: Underdevelopment of the frontal part (anterior crus or anterior limb) of the internal capsule.


Impaired toe-walking ability

description: Difficulty or reduced ability to walk on toes. Toe-walking can be tested as a part of the neurological examination. Foot plantar flexion weakness leads to difficulties in walking on toes.


Probst bundles

description: Probst bundles (also known as longitudinal callosal fascicles) are neuroanatomical homologues to the corpus callosum and can occur in association with callosal agenesis. Probst bundles are white matter fibers that normally cross the corpus callosum but (because of the agenesis of the corpus callosum) fail to cross the midline, such that when they reach the corticoseptal boundary, they turn and run parallel to the interhemispheric fissure within the septal leaves, indenting the medial walls of the lateral ventricles.


name: Anti-side-chain cleavage enzyme antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583).


Increased fecal calprotectin level

description: An increased amount of calprotectin in the feces.


Fetal anomaly

description: Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate.


Abnormal fetal morphology

description: Any structural anomaly of the fetus.


Abnormal fetal physiology

description: Any functional anomaly of the fetus.


name: Anti-steroid 17alpha-hydroxylase antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against steroid 17alpha-hydroxylase.


Anti-insulin antibody positivity

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


name: Anti-islet antigen-2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2.


name: Anti-salivary protein antibody positivity

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


name: Anti-Zinc transporter 8 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8.


name: Anti-carbonic anhydrase VI antibody positivity

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


Tonofilament clumping

description: Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes.


name: Anti-plasminogen binding peptide antibody positivity

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


name: Anti-parotid secretory protein antibody positivity

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


Anti-enterocyte antibody positivity

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


Anti-21-hydroxylase antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase.


Abnormal fetal long-bone echogenicity

description: Any deviation from the normal appearing echogenicity of the fetal bone. Echogenicity refers to the ability of tissue to reflect ultrasound waves back toward the transducer and produce an echo. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. The higher the echogenicity of tissues, the brighter they appear on ultrasound imaging.


Reduced fetal long bone echogenicity

description: An abnormally decreased echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypomineralization and can be seen in some disorders such as hypophosphatasia, osteogenesis imperfecta, and achondrogenesis.


Increased fetal long bone echogenicity

description: An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. This finding is due to hypermineralization.


name: Decreased circulating apolipoprotein B concentration

description: Reduced circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100.


Anti-ribosome Po antibody positivity

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


name: Anti-complement component C1q antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q.


name: Anti-centromere protein A antibody positivity

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


name: Anti-centromere protein B antibody positivity

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


Anti-U3 RNP antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP.


Anti-Th/To antibody positivity

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


Anti-bicaudal D2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2.


name: Anti-nucleolus-organizing region antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Nor90.


name: Anti-phosphatidyl ethanolamine antibody positivity

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


Anti-PM-Scl100 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100.


Anti-PM-Scl75 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl75.


Anti-U11/U12 RNP antibody positivity

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


Anti-Ku antibody positivity

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


Anti-B23 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against B23.


Anti-RuvBL1/2 antibody positivity

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


name: Anti-platelet derived growth factor receptor

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor.


name: Anti-cyclic citrullinated peptide antibody positivity

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


Anti-Ro52/TRIM21 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21.


name: Anti-angiotensin receptor type-1 antibody positivity

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


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.


name: Anti-phosphatidic acid antibody positivity

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


name: Anti-phosphatidyl choline antibody positivity

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


name: Anti-phosphatidyl glycerol antibody positivity

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


name: Anti-phosphatidyl inositol antibody positivity

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


name: Anti-phosphatidyl serine antibody positivity

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


Anti-annexin-V antibody positivity

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


Anti-sphingolipid antibody positivity

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


Anti-GM1 antibody positivity

description: Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury


name: Anti-neutrophil elastase antibody positivity

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


name: Anti-transcription intermediary factor-1gamma antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma.


name: Anti-Su antigen/argonaute 2 antibody positivity

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


Anti-p53 antibody positivity

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


name: Anti-Y-box protein-1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1.


Anti-GW182 antibody positivity

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


name: Anti-Gerbich phenotype 1 antibody positivity

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


Anti-MIT3 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3.


Anti-GM1 IgG antibody positivity

description: The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GM1.


Anti-hexokinase-1 antibody positivity

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


name: Anti-Kelch like protein 12 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12.


name: Anti-angiotensin-converting enzyme 2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2.


Anti-GM1 IgM antibody positivity

description: The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1.


Anti-GD1a IgG antibody positivity

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


Anti-GD1a IgM antibody positivity

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


Anti-GD1a antibody positivity

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


Anti-GQ1b antibody positivity

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


Anti-GQ1b IgM antibody positivity

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


Anti-GD1b antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.


Anti-GD1b IgM antibody positivity

description: The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.


Anti-GD1b IgG antibody positivity

description: The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.


Anti-GQ1b IgG antibody positivity

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


Anti-GT1a antibody positivity

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


Anti-GT1a IgM antibody positivity

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


Anti-GT1a IgG antibody positivity

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


Anti-GT1b antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1b ganglioside.


Anti-GM2 antibody positivity

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


Anti-GM3 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3.


Anti-GM4 antibody positivity

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


description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155.


name: Anti-neurofascin 186 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186.


Anti-contactin-1 antibody positivity

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


name: Anti-contactin-associated protein 1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-contactin-associated protein 1.


name: Anti-SUMO-activating enzyme antibody positivity

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


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

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


name: Anti-SUMO-activating enzyme subunit 2 antibody positivity

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


name: Anti-nuclear matrix protein-2 antibody positivity

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


name: Anti-threonyl-tRNA synthetase antibody positivity

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


Anti-hY-RNA complex antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro60.


name: Anti-alanyl-tRNA synthetase antibody positivity

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


name: Anti-glycyl tRNA-synthetase antibody positivity

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


name: Anti-aminoacyl-tRNA synthetase antibody positivity

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


name: Anti-isoleucyl tRNA-synthetase antibody positivity

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


name: Anti-phenylalanyl tRNA synthetase antibody positivity

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


name: Anti-tyrosyl-tRNA synthetase antibody positivity

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


name: Anti-asparaginyl-tRNA synthetase antibody positivity

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


name: Anti-histidyl tRNA synthetase antibody positivity

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


description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A).


Anti-Ki antibody positivity

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


Anti-sp100 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against sp100. Autoantibodies causing the MND pattern are directed against sp100, sp140, promyelocytic leukemia nuclear body proteins (PML) or ubiquitin-like modifier (SUMO) proteins, while in the punctate nuclear envelope pattern, the target antigens are gp210, nucleoporin-62 or laminin B receptor proteins.


name: Anti-beta-2-Glycoprotein I IgG antibody positivity

description: Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.


name: Anti-beta-2-Glycoprotein I IgM antibody positivity

description: Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.


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.


name: Abnormal circulating interleukin 9 concentration

description: Any deviation from the normal range of the concentration of interleukin 9 in the blood circulation.


name: Reduced circulating interleukin 9 concentration

description: An abnormally decreased concentration of interleukin 9 in the blood circulation.


name: Abnormal circulating interleukin 10 concentration

description: Any deviation from the normal range of the concentration of interleukin 10 in the blood circulation.


name: Reduced circulating interleukin 10 concentration

description: An abnormally decreased concentration of interleukin 10 in the blood circulation.


name: Abnormal circulating interleukin 21 concentration

description: Any deviation from the normal range of the concentration of interleukin 21 in the blood circulation.


name: Reduced circulating interleukin 21 concentration

description: An abnormally decreased concentration of interleukin 21 in the blood circulation.


name: Increased circulating interleukin 21 concentration

description: An abnormally increased concentration of interleukin 21 in the blood circulation.


name: Abnormal circulating interleukin 22 concentration

description: Any deviation from the normal range of the concentration of interleukin 22 in the blood circulation.


name: Reduced circulating interleukin 22 concentration

description: An abnormally decreased concentration of interleukin 22 in the blood circulation.


name: Increased circulating interleukin 22 concentration

description: An abnormally increased concentration of interleukin 22 in the blood circulation.


name: Abnormal circulating interleukin 23 concentration

description: Any deviation from the normal range of the concentration of interleukin 23 in the blood circulation.


name: Reduced circulating interleukin 23 concentration

description: An abnormally decreased concentration of interleukin 23 in the blood circulation.


name: Increased circulating interleukin 23 concentration

description: An abnormally increased concentration of interleukin 23 in the blood circulation.


name: Abnormal circulating interleukin 27 concentration

description: Any deviation from the normal range of the concentration of interleukin 27 in the blood circulation.


name: Reduced circulating interleukin 27 concentration

description: An abnormally decreased concentration of interleukin 27 in the blood circulation.


name: Increased circulating interleukin 27 concentration

description: An abnormally increased concentration of interleukin 27 in the blood circulation.


name: Abnormal circulating interleukin 17A concentration

description: Any deviation from the normal range of the concentration of interleukin 17A in the blood circulation.


name: Reduced circulating interleukin 17A concentration

description: An abnormally decreased concentration of interleukin 17A in the blood circulation.


name: Increased circulating interleukin 17A concentration

description: An abnormally increased concentration of interleukin 17A in the blood circulation.


Vertebral artery aneurysm

description: Abnormal outpouching or sac-like dilatation in the wall of the vertebral artery .


Fusion of the caudate and putamen

description: Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule.


Aplasia/Hypoplasia of the liver

description: Absence or underdevelopment of the liver.


Segmental hypoplasia of liver

description: Anatomically the liver is divided into right and left lobes based on the attachment of its peritoneal ligaments. This term refers to a developmental anomaly characterzied by the underdevelopment of one of the lobes of the liver. This is a rare and usually asymptomatic anomaly that can be detected incidentally on cross sectional imaging with computed tomography or magnetic resonance imaging.


Spastic triplegia

description: Spastic weakness found in both lower extremities and one upper extremity.


name: Increased insulin like growth factor binding protein acid labile subunit concentration

description: An abnormally elevated concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation.


Median pseudocleft lip

description: A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline.


Patella alta

description: Patella alta is a patella that rides abnormally high in relation to the femur, the femoral trochlea, or the tibia, with decreased bony stability requiring increased knee flexion angles to engage the trochlea.


Clavicular pseudarthrosis

description: A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint).


Midline liver

description: Position of the liver across the middle of the body instead of being in its normal position to the right of the stomach.


name: Anti-thyroid-stimulating hormone receptor antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone.


name: Abnormal fetal cardiovascular physiology

description: Abnormal functionality of the fetal cardiovascular system.


name: Elevated fetal middle cerebral artery peak systolic velocity

description: Increased peak systolic velocity of the fetal middle cerebral artery (MCA) as evaluated by Doppler ultrasound.


Pulmonary thromboembolism

description: Pulmonary embolism is caused by emboli, which have originated from venous thrombi, traveling to and occluding the arteries of the lung.