Torsion of appendix of testis

description: The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention.


Spinal epidural abscess

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

description: Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect of the abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina.


Increased circulating cathepsin D level

description: An increase in concentration of cathepsin D in the blood circulation.


Bilobed right lung

description: A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung.


Misalignment of the pulmonary veins

description: The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins.


Hyperimidodipeptiduria

description: Elevated levels of proline-containing dipeptides in urine.


Cystic acne

description: A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum.


Radiculomegaly

description: Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length.


Hypertrichotic hyperpigmented patch

description: A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth.


name: Increased circulating selenium concentration

description: An increased concentration of selenium in the blood circulation.


name: Decreased circulating selenium concentration

description: An abnormally reduced concentration of selenium in the blood circulation.


Ballooning hepatocyte degeneration

description: Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarefied, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62.


Perioral erythema

description: Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth.


Perianal erythema

description: Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus.


Portal inflammation

description: Infiltration of portal fields by inflammatory cells.


Hepatic lobular inflammation

description: Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes).


name: Increased circulating interleukin 10 concentration

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


Triceps hyporeflexia

description: Reduced intensity of the triceps tendon reflex.


Biceps hyporeflexia

description: Reduced intensity of the biceps tendon reflex.


Brachioradialis hyporeflexia

description: Reduced intensity of the brachioradialis tendon reflex.


Brachioradialis hyperreflexia

description: Increased intensity of the brachioradialis reflex.


Triceps hyperreflexia

description: Increased intensity of the triceps reflex.


Biceps hyperreflexia

description: Increased intensity of the biceps reflex.


Hyperactive Achilles reflex

description: Increased intensity of the Achilles reflex.


name: Increased proportion autoreactive unresponsive CD21-/low B cells

description: Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures.


Acinar dysplasia

description: Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli.


Decreased total iron binding capacity

description: A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.


Abnormal total iron binding capacity

description: Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added.


Elevated urine suberic acid level

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


Recurrent viral pneumonia

description: Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias.


name: Obliterative abnormality of the renal glomerulus


Glomerular hyalinosis

description: Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular.


Perihilar glomerular hyalinosis

description: Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum.


name: Glomerular hyalinosis at the tubular pole

description: Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole.


name: Glomerular hyalinosis away from the vascular and tubular poles

description: Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section.


2-ethylhydracylic aciduria

description: An increased concentration of 2-ethylhydracylic acid in the urine.


Increased CD4:CD8 ratio

description: An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells.


Decreased CD4:CD8 ratio

description: An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells.


name: Abnormal glomerular parietal epithelial cell morphology

description: Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole.


name: Glomerular parietal epithelial cell hyperplasia

description: Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering.


name: Glomerular parietal epithelial cell hypertrophy

description: An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present


Bowman capsular hyaline drops

description: An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material.


Glomerular synechial adhesion

description: An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis.


Triceps areflexia

description: Inability to elicit triceps tendon reflex.


Brachioradialis areflexia

description: Inability to elicit brachioradialis tendon reflex.


Biceps areflexia

description: Inability to elicit biceps tendon reflex.


name: Abnormal glomerular mesangial cellularity

description: Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney.


name: Abnormal glomerular mesangial matrix morphology

description: Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix.


Paramesangial deposits

description: Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane.


Mesangial hyaline deposition

description: Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material.


Difficulty descending stairs

description: Reduced ability to desscend stairs.


Cognitive fatigue

description: A failure to sustain attention that requires self-motivation to optimize performance.


Visceral epithelial cell detachment

description: Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'.


Podocyte microvillous transformation

description: Cytoplasmic projections into the urinary space from the luminal side of the podocyte.


Visceral epithelial cell capping

description: Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus.


Elevated RV/TLC ratio

description: An increase in the 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 (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation.


Polyalveolar lobe

description: An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold.


Horseshoe lung

description: A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac.


Pulmonary necrosis

description: Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components.


name: Glycogen accumulation in pulmonary interstitial cells

description: Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells.


name: Abnormal alveolar type II pneumocyte morphology

description: Any structural abnormality of alveolar type 2 (ATII) cells.


Type II pneumocyte hypertrophy

description: Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin.


Pulmonary amyloidosis

description: Extracellular deposition in lung tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.


name: Multiple pulmonary interstitial hyalinized nodules

description: Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin.


name: Focal substantia nigra T2 hyperintensity

description: Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging.


Nailfold capillary tortuosity

description: An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels.


Elevated residual volume

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


Palmar hyperlinearity

description: Exaggerated skin markings (dermatoglyphics) on the palms of the hand.


name: Reduced circulating interferon gamma concentration

description: A reduction in the concentration of interferon gamma measured in the blood circulation.


Pancolitis

description: Inflammation of the entire colon.


Delayed ability to walk with support

description: A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage.


Sudden unexpected death in epilepsy

description: Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death.


Non-motor seizure

description: A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown.


Livedo racemosa

description: Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming.


Renal artery aneurysm

description: Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment.


name: Transphyseal fracture of the distal humerus

description: A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis.


Absent platelet dense granules

description: Lack of platelet dense granules, a type of platelet organelles.


Enlarged platelet dense granules

description: Increased size of platelet dense granules.


Podocyte myelin figures

description: Lamellated intracytoplasmic lipid inclusions within podocytes.


Glomerular pseudocrescent

description: Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact.


name: Abnormal glomerular capillary lumen morphology

description: Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus.


Deflation of the glomerular tuft

description: Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane.


Glomerular capillary collapse

description: Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs).


Glomerular capillary congestion

description: Global distention of glomerular capillaries with intraluminal intact red blood cells.


Glomerular capillary microaneurysm

description: Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis.


name: Abnormal glomerular endothelial cell morphology

description: An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier.


name: Loss of glomerular endothelial cell fenestration

description: Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm.


Glomerular endotheliosis

description: Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen.


name: Glomerular endothelial tubuloreticular inclusion

description: Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon.


Glomerular fibrinoid necrosis

description: Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis.


name: Reduced CD95-induced lymphocyte apoptosis

description: Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells.


Enterocutaneous fistula

description: An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin.


Paratracheal lymphadenopathy

description: Enlargement of lymph nodes surrounding the trachea.


Circulating nucleated red blood cells

description: The presence of nucleated red blood cells in the peripheral blood circulation.


name: Abnormal glomerular basement membrane morphology

description: Any abnormal sttructure of the glomerular basement membrane.


name: Segmentally thickened glomerular basement membrane

description: Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.


name: Diffusely thickened glomerular basement membrane

description: Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.


name: Thickened glomerular basement membranes with no electron dense deposits

description: Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy.


name: Thickened glomerular basement membranes with electron dense deposits


Glomerular basement membrane lucencies

description: Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits.


Glomerular basement membrane wrinkling

description: Irregular folding of the glomerular basement membrane with an intact lamina densa.


Glomerular subendothelial widening

description: Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material.


Glomerular karyhorrhectic debris

description: Apoptotic, pyknotic, and fragmented nuclei within the glomerulus.


Glomerular fibrin thrombus

description: An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen.


Glomerular hyaline pseudothrombus

description: Intracapillary amorphous, eosinophilic material consisting of immune deposits.


Glomerular lipoprotein thrombus

description: Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections.


Mesangial Immune complex deposition

description: Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit.


Binucleated visceral epithelial cells

description: Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy.


name: Multinucleated visceral epithelial cells

description: Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy.


name: Abnormal circulating complement factor H related protein 1 concentration

description: A deviation from the normal concentration in blood of factor H-related protein 1 (FHR-1)


name: Reduced circulating complement factor H related protein 1 concentration

description: Decreased level of circulating complement factor H related protein 1 concentration in the blood circulation.


name: Increased circulating complement factor H related protein 1 concentration

description: Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation.


name: Elevated circulating 1-methylhistidine concentration

description: An abnormally increased level of 1-methylhistidine in the blood circulation. 1-methylhistidine is a derivative of L-histidine.


name: Elevated circulating 4-hydroxyphenylacetic acid concentration

description: The concentration of 4-Hydroxyphenylacetic acid in the blood circulation is above the upper limit of normal.


name: Elevated urinary monocarboxylic acid level

description: Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group.


name: Abnormal circulating fetuin A concentration

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


name: Decreased circulating fetuin A concentration

description: A reduction below normal of fetuin A in the blood circulation.


name: Increased circulating fetuin A concentration

description: An elevation above normal of fetuin A in the blood circulation.


Patellar overgrowth

description: Excessive growth of the kneecap (patella).


Ileoileal intussusception

description: A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum.


Abdominal aortic dissection

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


Abnormal Bowman space morphology

description: Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron.


Urinary space collagenization

description: Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft.


Visceral epithelial cell hyperplasia

description: Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium.


Visceral epithelial hyaline droplets

description: Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells.


Glomerular crescent formation

description: Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin.


Cellular crescent

description: A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix.


Fibrocellular crescent

description: A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix.


Fibrous crescent

description: A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference.


Mesangial cell loss

description: Loss of mesangial cells segmentally or globally.


Glomerular obsolescence

description: Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium.


name: Glomerular capillary wall duplication without cellular interposition

description: Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.


name: Glomerular capillary wall duplication with cellular interposition

description: Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.


name: Elevated circulating homovanillic acid concentration

description: The concentration of homovanillic acid in the blood circulation is above the upper limit of normal.


name: Elevated circulating sebacic acid concentration

description: Increased concentration of sebacic acid in the blood circulation.


name: Elevated circulating hydroxyphenlyllactic acid concentration

description: An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation.


Nail psoriasis

description: Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed.


Type II pneumocyte hyperplasia

description: Increase in the number of type II pneumocytes.


Abnormal postural reflex

description: Anomaly of the physiological response to maintain the body's posture when movement and position is altered.


Impaired neck-righting reflex

description: Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years.


Acute phase response

description: Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing.


name: Elevated circulating amyloid A concentration

description: The concentration of serum amyloid A in the blood circulation is above the upper limit of normal.


Jaw contracture

description: Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement.


Abnormal embryonic development

description: An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm.


name: Abnormal preimplantation embryonic development

description: An anomaly in the development of the embryo in a stage prior to implantation.


Zygotic cleavage failure

description: Failure of a fertilized oocyte to undergo the first round of cell division.


Abnormal gametogenesis

description: An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II.


Abnormal female meiosis

description: Anomalous oocyte meiosis


name: Increased circulating inosine concentration

description: An increased concentration of inosine in the blood circulation.


name: Increased circulating guanosine concentration

description: Increased concentration of guanosine in the blood circulation.


name: Elevated circulating sitosterol concentration

description: An increased concentration of beta-sitosterol in the blood circulation.


Anti-aquaporin 4 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4.


Mucoid diarrhea

description: Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes.


Pleural cobblestoning

description: A pleural cobblestone appearance characterized by irregular bumps surrounded by depressed lines in open lung biopsy. Caused by underlying scarring causing retraction of the interlobular septa where they insert on the pleura.


Psychic epileptic aura

description: Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events.


Cognitive epileptic aura

description: A purely subjective manifestation of an epileptic seizure pertaining to altered cognition.


Epileptic aura

description: An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure.


name: Elevated forced expiratory volume in one second

description: An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject.


Pulmonary hypertensive crisis

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


Abnormal blood vessel morphology

description: Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein).


Abnormal urine metabolite level

description: Any deviation from the normal amount of a metabolite in urine.


Increased urine deoxypyridinoline level

description: An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover.


name: Elevated circulating o-phosphoserine concentration

description: An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine.


Limited head rotation

description: Reduced range of motion turning the head side to side.


Abnormal urine osmolality

description: A deviation from the normal range of concentration of particles in urine.


Hyperosthenuria

description: An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine.


Impaired ability to shift attention

description: A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible.


Nasal ulcer

description: An open sore of the nasal mucosa.


Recurrent coughing spasms

description: Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing.


Hyaline membranes

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


Endogenous lipoid pneumonia

description: A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace.


Exogenous lipoid pneumonia

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


Orthodeoxia

description: Low level of blood oxygen induced by changing from a recumbent to an upright position.


Platypnea

description: A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position.


Cavitating leukodystrophy

description: A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity.


Bronchial telangiectasia

description: Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system.


Bronchocentric granulomatosis

description: Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen.


Abnormal KCO

description: Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O.


Increased KCO

description: Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).


Decreased KCO

description: Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).


Alveolar septal thickening

description: Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology.


Increased airway neuroendocrine cells

description: Presence of increased numbers of bombesin-immuno-positive neuroendocrine cells (NECs) within distal airways. There are no formal criteria for an increase (which is also dependend on the sensitivity of the staining method), findings of neuroendocrine cells in at least 70% of bronchioles by lung biopsy and at least 10% NECs in an individual airway are consistent with the diagnosis of Neuroendocrine cell hyperplasia of infancy in the appropriate clinical setting. Increases are also seen in other clicnial settings. Neuroendocrine neoplasms of the lung encompass NE tumors (NETs), which split into typical and atypical carcinoids, and NE carcinomas (NECs).


Increased airway neuroepithelial bodies

description: Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts.


Bilateral superior vena cava

description: The presence of a left and a right superior vena cava.


Nasal chondritis

description: Inflammation of the cartilage of the nose.


name: Elevated circulating stearoylcarnitine concentration

description: Abnormally increased concentration of O-stearoylcarnitine in the blood circulation.


name: Elevated circulating palmitoylcarnitine concentration

description: Abnormally increased concentration of palmitoylcarnitine in the blood circulation.


name: Decreased compound muscle action potential amplitude

description: Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve.


name: Elevated urinary collagen degradation products

description: Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.


Elevated urine pyridinoline level

description: An increased amount of pyridinoline in the urine.


name: Abnormal circulating collagen degradation product concentration

description: Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.


name: Elevated circulating pyridinoline concentration

description: An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation.


Abnormal bronchial artery morphology

description: Any structural abnormality of a bronchial artery.


Bronchopulmonary anastomosis

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


Bronchial artery dilatation

description: Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm.


Bronchial artery hypertrophy

description: Increase in the volume of bronchial artery wall due to the enlargement of its component cells.


name: Perivascular pre-capillary pulmonary artery inflammation

description: Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer).


Irregularly shaped sperm tail

description: Irregular or changing caliber (diameter) along the tail of the sperm.


name: Anti-carbonic anhydrase II antibody positivity

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


Antilactoferrin antibody positivity

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


Glomerular extracapillary fibrin

description: Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina.


Bowman-space proteinaceous debris

description: The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space.


Pleural plaque

description: Deposits of hyalinized collagen fibers in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs).


Persistent fever

description: Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks.


Acute abdomen

description: A sudden onset of abdominal pain with associated nausea or vomiting. The acute abdomen may be caused by an infection, inflammation, vascular occlusion, or obstruction.


Tissue ischemia

description: Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion.


Digital ischemia

description: Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis.


Testicular ischemia

description: Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the tissue. Clinical manifestations may include pain and swelling of the affected testis.


name: Abnormal circulating organic amino compound concentration

description: Any deviation from the normal concentration of an organic amino compound, defined as a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups.


name: Elevated circulating o-phosphoethanolamine concentration

description: An increased concentration of o-phosphoethanolamine in the blood circulation.


Elevated urine acetoacetic acid level

description: Elevated amount of acetoacetic acid in the urine.


name: Elevated circulating acetoacetic acid concentration

description: An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies.


Elevated urinary 2-hydroxybutyric acid

description: An increased amount of 2-hydroxybutyric acid in the urine.


name: Elevated circulating cartilage oligomeric matrix protein concentration

description: An increased blood concentration of cartilage oligomeric matrix protein (COMP).


Lower extremity akinesia

description: Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities.


Upper extremity akinesia

description: Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the upper extremities.


Upper extremity hypokinesia

description: Abnormally diminished movement of the upper extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.


Lower extremity hypokinesia

description: Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.


Hip adductor weakness

description: Reduced ability to bring the leg toward the midline of the body.


name: Elevated circulating hydroxybutyric acid concentration

description: An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent.


name: Elevated circulating 2-hydroxybutyric acid concentration

description: Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range.


name: Elevated circulating 3-hydroxybutyric acid concentration

description: Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range.


Pulmonary arterial plexiform lesion

description: Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels.


Pulmonary artery intimal thickening

description: Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10%.


Pulmonary artery adventitial fibrosis

description: Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree.


name: Pulmonary arterial hypertension with positive acute response to NO challenge

description: A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at leasy 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm.


name: Pulmonary arterial hypertension with lack of acute response to NO challenge

description: A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm).


Periungual erythema

description: Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail.


Pulmonary air embolism

description: Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation.


Pulmonary capillary angioectasia

description: Focal accumulation of dilated pulmonary capillaries.


Systemic autoinflammation

description: Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body.


Neuroinflammation

description: Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain.


Cytomegalovirus colitis

description: A form of cytomegalovirus infection characterized by infection and inflammation of the colon.


Ileocecal ulcer

description: An erosion of the mucous membrane in the region connecting the ileum and cecum.


Nasal septum perforation

description: A full-thickness defect of the nasal septum.


name: Abnormal circulating keto acid concentration

description: A deviation from the normal concentration of a keto acid in the blood circulation. Keto acids or ketoacids are organic compounds that contain a carboxylic acid group and a ketone group.


name: Elevated circulating 3-methyl-2-oxovaleric acid concentration

description: The concentration of 3-methyl-2-oxovaleric acidin the blood circulation is above the upper limit of normal.


name: Elevated circulating 4-methyl-2-oxopentanoic acid concentration

description: The concentration of 4-methyl-2-oxopentanoic acid in the blood circulation is above the upper limit of normal.


name: Elevated circulating myoglobin concentration

description: An increased blood concentration of myoglobin.


name: Elevated circulating decenoylcarnitine concentration

description: Concentration of decenoylcarnitine in the blood circulation above the upper limit of normal.


name: Elevated circulating octenoylcarnitine concentration

description: Concentration of octenoylcarnitine in the blood circulation above the upper limit of normal.


name: Elevated circulating hexanoylcarnitine concentration

description: Concentration of hexanoylcarnitine in the blood circulation above the upper limit of normal.


name: Elevated circulating glutarylcarnitine concentration

description: Concentration of glutarylcarnitine in the blood circulation above the upper limit of normal.


name: Elevated circulating propionylcarnitine concentration

description: Increased concentration of propionylcarnitine in the blood circulation.


name: Elevated circulating dodecanoylcarnitine concentration

description: Concentration of dodecanoylcarnitine (C12:0) in the blood circulation above the upper limit of normal.


name: Reduced circulating acylcarnitine concentration

description: An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.


name: Elevated circulating butyrylcarnitine concentration

description: Concentration of O-butyrylcarnitine in the blood circulation above the upper limit of normal.


name: Elevated circulating isovalerylcarnitine concentration

description: Concentration of O-isovalerylcarnitine in the blood circulation above the upper limit of normal.


Increased mid-arm muscle circumference

description: Elevation of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children.


Decreased mid-arm muscle circumference

description: Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children.


name: Abnormal circulating prealbumin concentration

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


name: Increased circulating prealbumin concentration

description: An elevation above the normal concentration of prealbumin in the blood circulation.


Limited neck extension

description: Reduced abilty to move the head back towards the ceiling so that one is looking upwards.


Tube feeding

description: Feeding problem necessitating food and nutrient delivery via a tube.


Elevated urine keto acid level

description: Increased amount of a keta acid in the urine.


name: Elevated urine 3-methyl-2-oxovaleric acid level

description: Increased amount of 3-methyl-2-oxovaleric acid in the urine.


name: Elevated urine 4-methyl-2-oxopentanoic acid level

description: Increased amount of 4-methyl-2-oxopentanoic acid in the urine.


name: Decreased circulating apolipoprotein concentration

description: Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein).


name: Increased circulating apolipoprotein circulation

description: Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein).


name: Elevated circulating 3-hydroxylinoleylcarnitine concentration

description: Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation.


name: Elevated circulating oleylcarnitine concentration

description: Increased concentration of oleylcarnitine in the blood circulation.


name: Elevated circulating 3-hydroxypalmitoleylcarnitine concentration

description: Concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation above the upper limit of normal.


name: Elevated circulating tetradecanoylcarnitine concentration

description: Elevated circulating tetradecanoyl concentration.


Weak grip

description: Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand.


Low 10-minute APGAR score

description: A normal APGAR score can be coded as 'not Low 10-minute APGAR score'.


Limited shoulder abduction

description: Decreased ability to move the arm away from the midline of the body.


Extractable nuclear antigen positivity

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


name: Abnormal circulating lipoprotein lipase concentration

description: A deviation from the normal concentration of lipoprotein lipase in the blood circulation.


name: Increased circulating lipoprotein lipase concentration

description: Increased concentration of lipoprotein lipase in the blood circulation.


name: Abnormal circulating bilirubin concentration


Hypobilirubinemia

description: Concentration of bilirubin in the blood circulation below the lower limit of normal.


Limited lateral neck flexion

description: Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder.


Limited shoulder flexion

description: A reduced ability to flex the shoulder. Shoulder flexion is the motion that moves the arms from a resting position by the side of the body to a position above the head.


Podocyte infolding

description: Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM.


name: Elevated circulating linoleylcarnitine concentration

description: Increased concentration of linoleylcarnitine in the blood circulation.


Glomerular basement membrane disruption

description: A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver.


name: Abnormal glomerular basement membrane texture

description: Anomalous appearance or structure of the surface of the glomerular basement membrane.


name: Glomerular basement membranes powdery deposit

description: Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane.


name: Glomerular endocapillary leukocyte hypercellularity

description: Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.


name: Glomerular endocapillary neutrophil hypercellularity

description: Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.


name: Glomerular endocapillary foam-cell hypercellularity

description: Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space.


Global mesangial sclerosis

description: A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity).


Podocyte cytoskeletal condensation

description: Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte.


Mesangial matrix expansion

description: Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas.


name: Glomerular basement membrane amyloid spicule

description: Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains.


Perihilar segmental glomerulosclerosis

description: Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule.


name: Tip variant segmental glomerulosclerosis

description: Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.


name: Segmental glomerulosclerosis away from the vascular and tubular poles

description: Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.


name: Glomerular basement membrane electron dense deposits

description: Electron-dense deposits in the lamina densa with a ribbon or a sausage structure.


name: Subendothelial glomerular basement membrane electron dense deposits

description: Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect.


name: Subepithelial glomerular basement membrane electron dense deposits

description: Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM.


name: Abnormal esterified to free carnitine ratio

description: Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.


Elevated CSF fumarate concentration

description: An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid.


name: Elevated circulating fumarate concentration

description: An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation.


name: Increased esterified to free carnitine ratio

description: An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.


name: Decreased esterified to free carnitine ratio

description: A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.


EBV meningitis

description: Inflammation of the meninges related to infection by Epstein-Barr virus.


EBV encephalitis

description: Inflamation of the brain related to infection by Epstein-Barr virus.


Cutaneous horn

description: A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin.


Addictive stimulant use

description: Addiction to a stimulant drug is defined as a drug that typically increases alertness, attention, and energy while also elevating blood pressure, heart rate, and breathing.


Addictive amphetamine use

description: Addiction to amphetamine or dextroamphetamine is a serious concern.


Addictive benzodiazepine use

description: Addiction to a benzodiazepine.


Addictive methylphenidate use

description: Addiction to methylphenidate.


Addictive methamphetamine use

description: Addiction to methamphetamine.


Paradoxical embolism

description: Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation.


Nasal dryness

description: A lack of humidification of the nasal mucosa.


name: Abnormal sperm principal piece morphology

description: A structural anomaly of the part of the sperm flagellum that is distal to the sperm midpiece and mitochondrial sheath and which leads into the end piece.


Abnormal sperm axoneme morphology

description: Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC.


name: Absent sperm axoneme central pair complex

description: Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern.


Limited ankle dorsiflexion

description: Reduced ability to move the foot up toward the shin.


name: Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio

description: A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin).


Abnormal cardiac output

description: A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs.


Abnormal cardiac index

description: Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area.


Increased cardiac index

description: An elevated cardiac index, defined as cardiac output divided by body surface area.


Decreased cardiac index

description: A reduced cardiac index, defined as cardiac output divided by body surface area.


Decreased cardiac output

description: A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat.


Increased cardiac output

description: An increased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat.


name: Increased circulating brain natriuretic peptide concentration

description: An increased concentration of brain natriuretic peptide in the blood circulation.


Reduced platelet dense granules

description: Decreased number of platelet dense granules, a type of platelet organelle.


Reduced platelet alpha granules

description: A reduced number of platelet alpha granules.


Mosaic pulmonary attenuation pattern

description: Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging.


Aortic annulus calcification

description: Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract.


Bilateral apical pulmonary fibrosis

description: A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray.


Reversible airflow obstruction

description: Airflow obstruction with a significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL.


Irreversible airflow obstruction

description: Airflow obstruction without significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL.


Bronchial wall thickening

description: Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density.


Mesangial fibril deposition

description: Extracellular mesangial accumulation of slender proteinaceous fibers.


Mesangial fibrillary deposits

description: Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material.


Mesangial microfibril deposition

description: Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins.


Mesangial immunotactoid deposits

description: Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination.


Mesangial amyloid deposition

description: Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass.


Nodular mesangiosclerosis

description: Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei.


Necrotizing pulmonary granulomatosis

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


description: A granuloma located in the lung that is not associated with necrotic changes.


Chronic villitis

description: Villitis of unknown etiology (synonymous with villitis of unknown etiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis.


Septic embolism

description: Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system.


Anti-Mi2 antibody positivity

description: The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen.


Anti-Ro/SS-A antibody positivity

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


Anti-nucleoporin 62 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62.


Anti-proteinase 3 antibody positivity

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


Anti-histone antibody positivity

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


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


Anti-PM-Scl antibody positivity

description: Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40.


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

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


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


name: Anti-tissue transglutaminase antibody positivity

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


Stasis dermatitis

description: Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus.


name: Anti-epidermal transglutaminase antibody positivity

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


Abnormal ventricular axis

description: Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization.


Right axis deviation

description: A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used.


Left axis deviation

description: A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees.


Extreme axis deviation

description: A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right.


Indeterminate ventricular axis

description: A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection.


Peripheral lung neovascularity

description: The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy.


Anti-H1 antibody positivity

description: The presence of autoantibodies in the blood circulation that react against histone H1.


Anti-H4 antibody positivity

description: The presence of autoantibodies in the blood circulation that react against histone H4.


Anti-H3 antibody positivity

description: The presence of autoantibodies in the blood circulation that react against histone H3.


Anti-H2A antibody positivity

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


Anti-H2B antibody positivity

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


In situ pulmonary artery thrombosis

description: Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease.


Pre-capillary pulmonary hypertension

description: Pre-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg).


name: Decreased growth hormone responses to growth hormone-releasing hormone challenge

description: Insufficient growth hormone secretion following administration of growth hormone-releasing hormone.


name: Compound motor action potential abnormality

description: An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibers in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fiber action potentials. The shortest latency of the CMAP is the time from stimulus artifact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV).


name: Absent peripheral lymph nodes in presence of infection

description: The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases.


name: Pulmonary interstitial lymphocyte infiltration

description: Abnormal accumulation of lymphocytes in the interstitium of the lung.


Follicular bronchiolitis

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


name: Fibrotic non-specific interstitial pneumonia

description: A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation.


name: Cellular non-specific interstitial pneumonia

description: A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia.


Vulvar abscess

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


Labial adhesion

description: Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline.


Flatulence

description: Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating.


Inguinal abscess

description: A circumscribed area of pus or necrotic debris in the groin (inguinal region).


Staghorn calculus

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


Anti-H3-H4 antibody positivity

description: The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer.


Anti-H2A-H2B antibody positivity

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


Elevated urinary 7-biopterin level

description: An abnormally increased amount of 7-biopterin in the urine.


name: Elevated circulating globotriaosylceramide concentration

description: Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease.


name: Elevated urinary 3-methylcrotonylglycine level

description: An abnormally increased amount of 3-methylcrotonylglycine in the urine.


name: Decreased mucosal sucrase-isomaltase activity

description: Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi.


name: Fibrillar glomerular subepithelial deposits

description: Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).


name: Glomerular amyloid subepithelial deposits

description: A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


name: Fibrillary glomerular subepithelial deposits

description: A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


name: Glomerular subepithelial immune-complex deposits

description: A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


name: Glomerular hyaline subepithelial deposits

description: A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Glomerular subepithelial deposits

description: Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Glomerular capillary wire loop deposits

description: Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop.


Pustular rash

description: A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils.


Bone marrow maturation arrest

description: Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow.


name: Bone marrow arrest at the promyelocytic stage

description: A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow.


Pulmonary nodule

description: Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging.


Solid pulmonary nodule

description: A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a "solid" appearance.


Subsolid pulmonary nodule

description: Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention.


Part-solid pulmonary nodule

description: Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized.


Pure ground-glass pulmonary nodule

description: Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed.


Perifissural pulmonary nodule

description: Solid, homogenous nodules characterized by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes.


Tracheal bronchus

description: Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced.


Displaced tracheal bronchus

description: Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus.


Accessory cardiac bronchus

description: Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended.


Supernumerary tracheal bronchus

description: Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus.


Displaced lobar tracheal bronchus

description: Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus.


Typical perifissural nodule

description: A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical).


Atypical perifissural nodule

description: A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical).


Bronchial diverticula

description: Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum.


Migratory erythematous plaque

description: A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin.


Birth history

description: Information about the delivery and health status at birth typically elicited as a part of the past medical history.


History of congenital CMV infection

description: A congenital cytomegalovirus (CMV) infection of the newborn can follow either a primary or recurrent maternal infection. Jaundice, petechiae, and hepatosplenomegaly are the most frequently noted clinical triad in symptomatic infants. Affected infants may develop permanent disabilities such as hearing loss, vision loss, motor and cognitive deficits.


Emotional insecurity

description: A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability, which is perceived as threatening.


name: Increased non-HDL cholesterol concentration

description: Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol).


Increased urine harderoporphyrin level

description: Concentration of harderoporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.


Bowel irritability

description: Intermittent abdominal pain with diarrhea and/or constipation.


IgG4 autoimmune antibody positivity

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


Brain fog

description: Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is "cloudy". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously.


Abnormal alveolar volume

description: Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath manouver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas.


Decreased alveolar volume

description: An abnormal reduction in alveolar volume.


Increased alveolar volume

description: An abnormal elevation in alveolar volume.


Post-capillary pulmonary hypertension

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


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


Anti-endomysial antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2).


Intralobular septal thickening

description: Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern.


Septic pulmonary embolism

description: Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations.


Acetabular erosions

description: Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint.


Aortic valve leaflet calcification

description: Deposition of calcium salts in the leaflets (cusps) of the aortic valve.


Mitral valve leaflet calcification

description: Deposition of calcium salts in the leaflets (cusps) of the mitral valve.


name: Increased circulating very long-chain fatty acid concentration

description: Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons.


name: Elevated circulating erythropoietin concentration

description: Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.


Absent hippocampal commissure

description: Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum.


Silhouette sign

description: The silhouette sign is the absence of depiction of an anatomic soft-tissue border. It is caused by consolidation and/or atelectasis of the adjacent lung, by a large mass, or by contiguous pleural fluid. The silhouette sign results from the juxtaposition of structures of similar radiographic attenuation. The sign actually refers to the absence of a silhouette.


Pulmonary pseudocavity

description: A pseudocavity appears as an oval or round area of low attenuation in lung nodules, masses, or areas of consolidation that represent spared parenchyma, normal or ectatic bronchi, or focal emphysema rather than cavitation. These pseudocavities usually measure less than 1 cm in diameter. They have been described in patients with adenocarcinoma, bronchioloalveolar carcinoma, and benign conditions such as infectious pneumonia.


Paraseptal emphysema

description: Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae.


Pulmonary parenchymal band

description: A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleura (which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos.


Pulmonary mycetoma

description: A mycetoma is a discrete mass of intertwined hyphae, usually of an Aspergillus species, matted together by mucus, fibrin, and cellular debris colonizing a cavity, usually from prior fibrocavitary disease (eg, tuberculosis or sarcoidosis). A mycetoma may move to a dependent location when the patient changes position and may show an air crescent sign. CT scans may show a spongelike pattern and foci of calcification in the mycetoma.


Broncholith

description: A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis


Bronchocele

description: A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion.


Beaded septum sign

description: Irregular and nodular thickening of interlobular septa reminiscent of a row of beads.


Pulmonary cavity

description: A gas-filled space, seen as lucency or low-attenuation area, within a nodule, mass or area of parenchymal consolidations. It has a clearly defined wall over 4 mm thick.


Juxtaphrenic peak

description: A juxtaphrenic peak is a small triangular opacity based at the apex of the dome of a hemidiaphragm, associated with upper lobe volume loss of any cause (eg, postirradiation fibrosis or upper lobectomy). It is most readily appreciated on a frontal chest radiograph. The peak is caused by upward retraction of the inferior accessory fissure or an intrapulmonary septum associated with the pulmonary ligament.


Linear atelectasis

description: Linear atelectasis is a focal area of subsegmental atelectasis with a linear configuration, almost always extending to the pleura. It is commonly horizontal but sometimes oblique or vertical. The thickness of the atelectasis may range from a few millimeters to more than 1 cm.


Rounded atelectasis

description: Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung.


Hand paresthesia

description: Tingling (often refered to as a pins and needles feeling) and numbness in the hand.


Air crescent

description: An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer.