A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac. [LMU:kknoflach, PMID:29970781, PMID:3484566]


Glycogen accumulation in pulmonary interstitial cells

Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells. [PMID:29957271]


Abnormal alveolar epithelial type II cell morphology

Abnormal pulmonary type II cell morphology

Abnormal alveolar type II pneumocyte morphology

Any structural abnormality of alveolar type 2 (ATII) cells. [LMU:kknofloch, PMID:10445627, PMID:27792742]


Hypertrophic alveolar type II pneumocytes

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. [LMU:crapp, PMID:17554398, PMID:2166657]


Multiple pulmonary interstitial hyalinized nodules

Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin. [LMU:crapp, PMID:31538016]


Focal substantia nigra T2 hyperintense lesion

Focal substantia nigra T2 hyperintensity

Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging. []


Increase in the amount of air remaining in a person's lungs after full exhalation. [PMID:12934788]


A reduction in the concentration of interferon gamma measured in the blood circulation. []


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


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. [PMID:2827606, PMID:28276060]


Transphyseal fracture of the distal humerus

A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis. [PMID:26808044]


Increased size of platelet dense granules. [PMID:16551969]


Lamellated intracytoplasmic lipid inclusions within podocytes. [KPMP:arosenberg, PMID:32866505]


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. [KPMP:arosenberg, PMID:32866505]


Abnormal glomerular capillary lumen morphology

Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus. [PMID:24875196]


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. [KPMP:arosenberg, PMID:27102348]


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). [KPMP:arosenberg, PMID:32866505]


Global distention of glomerular capillaries with intraluminal intact red blood cells. [KPMP:arosenberg, PMID:32866505]


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. [KPMP:arosenberg, PMID:32866505]


Abnormal glomerular endothelial cell morphology

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. [KPMP:arosenberg, PMID:29629372]


Loss of glomerular endothelial cell fenestration

Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm. [KPMP:arosenberg, PMID:19129259]


Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen. [KPMP:arosenberg, PMID:14511965]


Glomerular endothelial tubuloreticular inclusion

Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon. [KPMP:arosenberg, PMID:23957425]


Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis. [KPMP:arosenberg, PMID:29459092]


Reduced CD95-induced lymphocyte apoptosis

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. [PMID:21625644]


The presence of nucleated red blood cells in the peripheral blood circulation. [PMID:28633658]


Abnormal glomerular basement membrane morphology

Any abnormal sttructure of the glomerular basement membrane. [PMID:29435440]


Segmentally thickened glomerular basement membrane

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. [KPMP:arosenberg]


Diffusely thickened glomerular basement membrane

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. [KPMP:arosenberg]


Thickened glomerular basement membranes with no electron dense deposits

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


Thickened glomerular basement membranes with electron dense deposits


Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits. [KPMP:arosenberg, PMID:32866505]


Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material. [KPMP:arosenberg, PMID:21827618, PMID:32866505]


Apoptotic, pyknotic, and fragmented nuclei within the glomerulus. [KPMP:arosenberg, PMID:32866505]


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


Intracapillary amorphous, eosinophilic material consisting of immune deposits. [KPMP:arosenberg, PMID:32866505]


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


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. [KPMP:arosenberg]


Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy. [KPMP:arosenberg]


Podocyte multinucleation
Multinucleated podocytes

Multinucleated visceral epithelial cells

Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy. [KPMP:arosenberg]


Abnormal circulating complement factor H related protein 1 concentration

A deviation from the normal concentration in blood of factor H-related protein 1 (FHR-1) [PMID:27814381]


Reduced circulating complement factor H related protein 1 concentration

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


Increased circulating complement factor H related protein 1 concentration

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


Elevated circulating 1-methylhistidine concentration

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


Elevated circulating 4-hydroxyphenylacetic acid concentration

An abnormally increased concentration of 4-Hydroxyphenylacetic acid in the blood circulation. []


Elevated urinary monocarboxylic acid level

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


Elevated urine 4-hydroxyphenylacetic acid level

Increased amount of 4-hydroxyphenylacetic acid in the urine. []


Abnormal circulating fetuin A concentration

Any deviation from the normal concentration of fetuin A in the blood circulation. [PMID:25468829]


Decreased circulating fetuin A concentration

A reduction below normal of fetuin A in the blood circulation. []


Increased circulating fetuin A concentration

An elevation above normal of fetuin A in the blood circulation. []


Excessive growth of the kneecap (patella). []


A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum. [PMID:17872641]


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. [PMID:32119361]


Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft. [KPMP:arosenberg, PMID:32866505]


Hyperplasia of visceral epithelial cells

Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium. [KPMP:arosenberg, PMID:32866505]


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


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. [PMID:32866505]


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. [KPMP:arosenberg, PMID:32866505]


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. [KPMP:arosenberg, PMID:32866505]


Loss of mesangial cells segmentally or globally. []


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. [KPMP:arosenberg]


Glomerular capillary wall duplication without cellular interposition

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. [KPMP:arosenberg]


Glomerular capillary wall duplication with cellular interposition

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. [KPMP:arosenberg]


Elevated circulating homovanillic acid concentration

Increased concentration of homovanillic acid in the blood circulation. []


Elevated circulating sebacic acid concentration

Increased concentration of sebacic acid in the blood circulation. []


Elevated circulating hydroxyphenlyllactic acid concentration

An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation. []


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. [PMID:13502822]


An increased concentration of serum amyloid A in the blood circulation. [PMID:30165816]


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. [PMID:32680920]


Abnormal preimplantation embryonic development

An anomaly in the development of the embryo in a stage prior to implantation. []


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. []


Increased circulating inosine concentration

An increased concentration of inosine in the blood circulation. []


Increased circulating guanosine concentration

Increased concentration of guanosine in the blood circulation. []


Elevated circulating beta-sitosterol concentration

Elevated circulating sitosterol concentration

An increased concentration of beta-sitosterol in the blood circulation. []


The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4. [ORCID:0000-0002-3387-1836, PMID:24260168, PMID:24415568, PMID:25889963, PMID:31312230]


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. [LMU:mgriese, PMID:27618319]


Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events. []


A purely subjective manifestation of an epileptic seizure pertaining to altered cognition. []


Elevated forced expiratory volume in one second

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. [ORCID:0000-0001-5361-6739, PMID:19671143]


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


Any deviation from the normal amount of a metabolite in urine. []


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. [PMID:12661898, PMID:9127470]


Elevated circulating o-phosphoserine concentration

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


Reduced range of motion turning the head side to side. []


A deviation from the normal range of concentration of particles in urine. []


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


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. [PMID:23356593]


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. [ORCID:0000-0002-4095-8489, PMID:11334115]


Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index). [ORCID:0000-0002-4095-8489, PMID:11334115]


Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index). [ORCID:0000-0002-4095-8489, PMID:11334115]


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


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). [LMU:mgriese, PMID:20884725, PMID:26474448, PMID:30521210, PMID:32558323, PMID:33306420]


Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts. [LMU:mgriese, PMID:10623675]


Elevated circulating stearoylcarnitine concentration

Abnormally increased concentration of O-stearoylcarnitine in the blood circulation. []


Elevated circulating palmitoylcarnitine concentration

Abnormally increased concentration of palmitoylcarnitine in the blood circulation. []


Elevated urinary collagen degradation products

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 hydroxylysyl-pyridinoline level

An increased amount of pyridinoline in the urine. [PMID:26306627]


Abnormal circulating collagen degradation product concentration

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. []


Elevated circulating pyridinoline concentration

An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation. [PMID:26306627]


Any structural abnormality of a bronchial artery. [ORCID:0000-0002-4095-8489, PMID:25590386]


Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries. [ORCID:0000-0002-4095-8489, PMID:10598843]


Bronchial artery enlargement
Dilatation of a bronchial artery

Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm. [ORCID:0000-0002-4095-8489, PMID:25590386, PMID:32430593]


Increase in the volume of bronchial artery wall due to the enlargement of its component cells. [ORCID:0000-0002-4095-8489, PMID:25590386]


Perivascular inflammation of arterioles in the pulmonary circulation

Perivascular inflammation of pre-capillary pulmonary arteries

Perivascular pre-capillary pulmonary artery inflammation

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


Anti-carbonic anhydrase II antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II. [ORCID:0000-0002-3387-1836, PMID:16932997]


The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin. [ORCID:0000-0002-3387-1836, PMID:16932997]


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


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


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. [PMID:10720362, PMID:26858079]


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. []


Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain and swelling of the affected testis. [PMID:33102026]


Abnormal circulating organic amino compound concentration

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. []


Elevated circulating o-phosphoethanolamine concentration

An increased concentration of o-phosphoethanolamine in the blood circulation. []


Elevated amount of acetoacetic acid in the urine. [PMID:11344564]


Elevated circulating acetoacetic acid concentration

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


An increased amount of 2-hydroxybutyric acid in the urine. []


Elevated circulating cartilage oligomeric matrix protein concentration

An increased blood concentration of cartilage oligomeric matrix protein (COMP). [PMID:25317315]


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


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


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. []


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. []


Reduced ability to bring the leg toward the midline of the body. [PMID:28914719]


Elevated circulating hydroxybutyric acid concentration

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. []


Elevated circulating 2-hydroxybutyric acid concentration

Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range. [PMID:27208342]


Elevated circulating 3-hydroxybutyric acid concentration

Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range. []


Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels. [ORCID:0000-0002-4095-8489, PMID:8504682]


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%. [ORCID:0000-0002-4095-8489, PMID:23606929, PMID:28025704]


Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree. [ORCID:0000-0002-4095-8489, PMID:17008597, PMID:23737168]


Pulmonary arterial hypertension with positive acute response to NO challenge

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. [PMID:15939821]


Pulmonary arterial hypertension with lack of acute response to NO challenge

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). [PMID:15939821]


Focal accumulation of dilated pulmonary capillaries. [ORCID:0000-0002-4095-8489]


Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines. []


Abnormal circulating keto acid concentration

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. []


Elevated circulating 3-methyl-2-oxovaleric acid concentration

An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation. []


Increased circulating alpha-ketoisocaproic acid concentration

Elevated circulating 4-methyl-2-oxopentanoic acid concentration

Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation. []


Elevated circulating myoglobin concentration

An increased blood concentration of myoglobin. [PMID:29262167]


Elevated plasma decenoylcarnitine, C10:1

Elevated circulating O-decenoylcarnitine concentration

Elevated circulating decenoylcarnitine concentration

Increased concentration of decenoylcarnitine in the blood circulation. []


Elevated circulating O-octenoylcarnitine concentration

Elevated circulating octenoylcarnitine concentration

Increased concentration of octenoylcarnitine in the blood circulation. []


Elevated circulating O-hexanoylcarnitine concentration

Elevated circulating hexanoylcarnitine concentration

Increased concentration of hexanoylcarnitine in the blood circulation. []


Elevated circulating O-glutarylcarnitine concentration

Elevated plasma glutarylcarnitine, C5-DC

Elevated circulating glutarylcarnitine concentration

Increased concentration of glutarylcarnitine in the blood circulation. [PMID:15617193]


Elevated circulating propionylcarnitine concentration

Increased concentration of propionylcarnitine in the blood circulation. []


Elevated plasma dodecanoylcarnitine, C12:0

Elevated circulating O-dodecanoylcarnitine concentration

Elevated circulating dodecanoylcarnitine concentration

Increased concentration of dodecanoylcarnitine in the blood circulation. []


Reduced circulating acylcarnitine concentration

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


Elevated circulating O-butyrylcarnitine concentration

Elevated circulating butyrylcarnitine concentration

Increased concentration of O-butyrylcarnitine in the blood circulation. []


Elevated circulating O-isovalerylcarnitine concentration

Elevated circulating isovalerylcarnitine concentration

Increased concentration of O-isovalerylcarnitine in the blood circulation. []


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. [PMID:27806975, PMID:27831914]


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. [PMID:27806975, PMID:27831914]


Abnormal circulating prealbumin concentration

Any deviation from normal concentration of albumin in the blood circulation. [PMID:11989633]


Increased circulating prealbumin concentration

An elevation above the normal concentration of prealbumin in the blood circulation. []


Decreased circulating prealbumin concentration

A reduction from the normal concentration of prealbumin in the blood circulation. [PMID:11989633]


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


Elevated urinary dicarboxylic acid level

Increased amount of a dicarboxylic acid in the urine. []


Increased amount of a keta acid in the urine. []


Elevated urine 3-methyl-2-oxovaleric acid level

Increased amount of 3-methyl-2-oxovaleric acid in the urine. []


Increased urine alpha-ketoisocaproic acid level

Elevated urine 4-methyl-2-oxopentanoic acid level

Increased amount of 4-methyl-2-oxopentanoic acid in the urine. []


Decreased circulating apolipoprotein concentration

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


Increased circulating apolipoprotein circulation

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


Elevated plasma 3-OH-Linoleylcarnitine, C18:1-OH

Elevated circulating 3-hydroxylinoleylcarnitine concentration

Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation. []


Elevated circulating oleylcarnitine concentration

Increased concentration of oleylcarnitine in the blood circulation. []


Elevated circulating 3-OH-palmitoleylcarnitine concentration

Elevated plasma 3-OH-Palmitoleylcarnitine, C16:1-OH

Elevated circulating 3-hydroxypalmitoleylcarnitine concentration

Increased concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation. []


Elevated circulating tetradecanolycarnitine concentration

Elevated circulating tetradecanoyl concentration. []


A normal APGAR score can be coded as 'not Low 10-minute APGAR score'. []


Decreased ability to move the arm away from the midline of the body. [PMID:32296967]


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. [PMID:11899137, PMID:16338206]


Abnormal circulating lipoprotein lipase concentration

A deviation from the normal concentration of lipoprotein lipase in the blood circulation. [PMID:30725725]


Increased circulating lipoprotein lipase concentration

Increased concentration of lipoprotein lipase in the blood circulation. [PMID:30725725]


Abnormal circulating bilirubin concentration


Decreased circulation of bilirubin in the blood circulation. []


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


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. []


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. [KPMP:arosenberg, PMID:32393263, PMID:33276871]


Elevated plasma linoleylcarnitine, C18:2

Elevated circulating linoleylcarnitine concentration

Increased concentration of linoleylcarnitine in the blood circulation. []


Disruption of the glomerular basement membrane

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. [KPMP:arosenberg, PMID:32866505]


Abnormal glomerular basement membrane texture

Anomalous appearance or structure of the surface of the glomerular basement membrane. [KPMP:arosenberg]


Glomerular basement membranes with powdery deposit

Glomerular basement membranes powdery deposit

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. [KPMP:arosenberg, PMID:32866505]


Glomerular endocapillary hypercellularity consisting of leukocytes

Glomerular endocapillary leukocyte hypercellularity

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


Glomerular endocapillary neutrophil hypercellularity

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


Glomerular endocapillary foam-cell hypercellularity

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


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


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. [KPMP:arosenberg, PMID:27102348]


Glomerular basement membrane amyloid spicule

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. [PMID:25852856, PMID:32866505]


Segmental glomerulosclerosis, perihilar pattern

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. [PMID:27437509]


Segmental glomerulosclerosis, tip variant

Tip variant segmental glomerulosclerosis

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. [KPMP:arosenberg, PMID:27437509]


Segmental glomerulosclerosis away from the vascular and tubular poles

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. [KPMP:arosenberg]


Glomerular basement membrane electron dense deposits

Electron-dense deposits in the lamina densa with a ribbon or a sausage structure. [PMID:33329990]


Subendothelial glomerular basement membrane electron dense deposits

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. []


Subepithelial glomerular basement membrane electron dense deposits

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. []


Abnormal esterified to free carnitine ratio

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


An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid. [PMID:31290619]


Elevated circulating fumarate concentration

An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation. [PMID:31290619]


Increased esterified to free carnitine ratio

An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. []


Decreased esterified to free carnitine ratio

A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. []


Inflammation of the meninges related to infection by Epstein-Barr virus. [PMID:22018204]


Inflamation of the brain related to infection by Epstein-Barr virus. [PMID:22018204]


Abnormal sperm principal piece morphology

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. [PMID:29024992]


Absent central pair complex (9+0 pattern)

Absent sperm axoneme central pair complex

Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern. [PMID:31278745]


Reduced ability to move the foot up toward the shin. [PMID:27465627]


Decreased plasma testosterone-to-androstenedione ratio

Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio

A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin). [PMID:10599740, PMID:11155091]


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. [PMID:18771592, PMID:29262215]


Increased ventricular natriuretic peptide

Increased circulating brain natriuretic peptide concentration

An increased concentration of brain natriuretic peptide in the blood circulation. [ORCID:0000-0002-4095-8489, PMID:16698841]


Decreased number of platelet dense granules, a type of platelet organelle. [PMID:31217188]


A reduced number of platelet alpha granules. [PMID:31217188]


Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging. [ORCID:0000-0002-4095-8489, PMID:26274445]


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. [ORCID:0000-0002-4095-8489, PMID:16461818, PMID:22699285, PMID:31157994]


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. [ORCID:0000-0002-4095-8489, PMID:16376803]


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. [ORCID:0000-0002-4095-8489, PMID:16264058]


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. [ORCID:0000-0002-4095-8489, PMID:16264058]


Extracellular mesangial accumulation of slender proteinaceous fibers. []


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. [KPMP:arosenberg, PMID:32866505]


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. [KPMP:arosenberg, PMID:32866505]


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. [KPMP:arosenberg, PMID:2500773]


Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. [KPMP:arosenberg, PMID:32866505]


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


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. [LMU:kknoflach, PMID:26040776]


A granuloma located in the lung that is not associated with necrotic changes. [LMU:mgriese]


The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen. [ORCID:0000-0002-4095-8489, PMID:30938432]


The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens. [ORCID:0000-0002-4095-8489, PMID:1522616, PMID:15804706]


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


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 [ORCID:0000-0002-4095-8489, PMID:9463400]


The presence of autoantibodies in the blood circulation that react against histone antigens. [ORCID:0000-0002-4095-8489, PMID:15096389]


The presence of autoantibodies in the blood circulation that react against myeloperoxidase. [ORCID:0000-0002-4095-8489, PMID:30767872]


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. [ORCID:0000-0002-4095-8489, PMID:17643929]


Anti-bactericidal/permeability-increasing protein antibody positivity

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. nBPI 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. [ORCID:0000-0002-4095-8489, PMID:31508255]


The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210. [ORCID:0000-0002-4095-8489, PMID:23814122]


Anti-tissue transglutaminase antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase. [ORCID:0000-0002-4095-8489, PMID:33259121]


Anti-epidermal transglutaminase (anti-eTG) antibody

Anti-epidermal transglutaminase antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase. [PMID:18503599]


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. [PMID:29262101]


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. [PMID:29262101]


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. [ORCID:0000-0002-4095-8489, PMID:16267251]


The presence of autoantibodies in the blood circulation that react against histone H1. [ORCID:0000-0002-4095-8489]


The presence of autoantibodies in the blood circulation that react against histone H4. [ORCID:0000-0002-4095-8489]


The presence of autoantibodies in the blood circulation that react against histone H3. [ORCID:0000-0002-4095-8489]


The presence of autoantibodies in the blood circulation that react against histone H2B. [ORCID:0000-0002-4095-8489]


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. [ORCID:0000-0002-4095-8489, PMID:15194174, PMID:15194175, PMID:16899857, PMID:6148159]


Impaired growth hormone secretory responses after growth hormone-releasing hormone challenge

Decreased growth hormone responses to growth hormone-releasing hormone challenge

Insufficient growth hormone secretion following administration of growth hormone-releasing hormone. [PMID:21651393]


Compound motor action potential abnormality

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 fibres 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 fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact 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). [PMID:15961865, PMID:26744834]


Absent peripheral lymph nodes in presence of infection

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


Pulmonary interstitial lymphocyte infiltration

Abnormal accumulation of lymphocytes in the interstitium of the lung. []


Fibrotic non-specific interstitial pneumonia

A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation. [LMU:mgriese, PMID:30085516rdfs:comment]


Cellular non-specific interstitial pneumonia

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


The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer. [ORCID:0000-0002-4095-8489, PMID:1864977, PMID:3874029, PMID:7986226]


The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer. [ORCID:0000-0002-4095-8489, PMID:7986226]


An abnormally increased amount of 7-biopterin in the urine. [PMID:9585615]


Elevated circulating ceramidetrihexoside concentration

Elevated circulating globotriaosylceramide concentration

Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease. [PMID:17073606]


Elevated urinary 3-methylcrotonylglycine level

An abnormally increased amount of 3-methylcrotonylglycine in the urine. []


Decreased mucosal sucrase-isomaltase activity

Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi. [PMID:16329100]


Fibrillar glomerular subepithelial deposits

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). [KPMP:arosenberg]


Glomerular amyloid subepithelial deposits

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). [KPMP:arosenberg, PMID:25852856]


Fibrillary glomerular subepithelial deposits

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). [KPMP:arosenberg, PMID:32866505]


Glomerular subepithelial immune-complex deposits

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). [KPMP:arosenberg, PMID:32866505]


Glomerular hyaline subepithelial deposits

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). [KPMP:arosenberg]


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). [PMID:30085237]


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. [PMID:32866505]


Bone marrow arrest at the promyelocytic stage

A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow. [PMID:26456767]


Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized. [ORCID:0000-0002-4095-8489, PMID:24100062]


Solid, homogenous nodules characterised 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. [ORCID:0000-0002-4095-8489, PMID:20177105]


Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus. [ORCID:0000-0002-4095-8489, PMID:11158647, PMID:19332762]


Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended. [ORCID:0000-0002-4095-8489, PMID:11158647]


Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus. [ORCID:0000-0002-4095-8489, PMID:11158647, PMID:19332762]


A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical). [ORCID:0000-0002-4095-8489]


A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical). [ORCID:0000-0002-4095-8489]


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. [PMID:31736939]


History of congenital cytomegalovirus infection

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. [PMID:29503048]


Elevated non-HDL cholesterol concentration

Increased non-HDL cholesterol concentration

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). [PMID:1596847, RGD:gthayman]


Increased amount of harderoporphyrin in the urine. [PMID:31085196]


The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues. [PMID:29483905]


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. [ORCID:0000-0002-4095-8489, PMID:25706496, PMID:28049168]


An abnormal reduction in alveolar volume. []


An abnormal elevation in alveolar volume. []


Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised 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). [ORCID:0000-0002-4095-8489, PMID:30545968]


Anti-transglutaminase 2 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2). [ORCID:0000-0002-4095-8489, PMID:9518950]


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. [ORCID:0000-0002-4095-8489, PMID:18195376, PMID:27852954]


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. [PMID:8793927]


Aortic valve cusp calcification
Aortic cusp calcification

Deposition of calcium salts in the leaflets (cusps) of the aortic valve. [ORCID:0000-0002-4095-8489, PMID:22896576]


Deposition of calcium salts in the leaflets (cusps) of the mitral valve. []


Increased plasma levels of very long-chain fatty acid

Increased circulating very long-chain fatty acid concentration

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. [PMID:9345094]


Elevated circulating erythropoietin concentration

Increased amount 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. [PMID:30725682]


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. [PMID:18195376]


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. [PMID:18195376]


A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleuran(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. [PMID:18195376]


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. [PMID:18195376]


Irregular and nodular thickening of interlobular septa reminiscent of a row of beads. [PMID:18195376]


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. [PMID:18195376, PMID:29518379]


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. [PMID:18195376]


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. [PMID:18195376]


Diminished health-related quality of life

A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles. [PMID:18638419, PMID:19282701]


Diminished physical health
Decline in physical functional health

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


A structural anomaly of the amygdala. []


Oligemia is a reduction in pulmonary blood volume. Most frequently, this reduction is regional, but occasionally it is generalized. Regional oligemia is usually associated with reduced blood flow in the oligemic area. Oligemia appears as a regional or widespread decrease in the size and number of identifiable pulmonary vessels, which is indicative of less than normal blood flow. [PMID:18195376]


The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve. [PMID:21524035, PMID:32310394]


Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung. [PMID:18195376]


A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events. Posttraumatic stress disorder (PTSD) symptoms include intrusive recollections (re-experiencing the trauma in flashbacks, memories or nightmares); avoidant and numbing symptoms (including diminished emotions and avoidance of situations that are reminders of the traumatic event); and hyperarousal (including increased irritability, exaggerated startle reactions or difficulty sleeping or concentrating). [PMID:26611143]


Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement. [ORCID:0000-0002-1735-8178]


Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types [PMID:27199166]


Procedural memory deficit
Impaired procedural memory

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


Impaired ability to remember facts and events. [PMID:33524264]


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


Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet. [PMID:32348545, PMID:33479703]


A type of vesicular eruption in which the vesicles are at same stages. [PMID:32348545]


A type of vesicular eruption in which the vesicles are at different stages. []


Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing. [PMID:17404618]


This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present). [PMID:18195376]


An increased amount of homogentisic acid in the urine. [PMID:32809406]


Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth. [PMID:32965877]


Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibodies

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


An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway). [PMID:16983448, PMID:21121836]


Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening. []


Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles. [PMID:22976427, PMID:25473625]


Anti-signal recognition particle antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle. [PMID:29582188, PMID:30639649, PMID:33093664]


EEG with frontal epileptiform discharges

Focal epileptiform EEG discharges recorded in the frontal region. []


EEG with temporal epileptiform discharges

Focal epileptiform EEG discharges recorded in the temporal region. [ORCID:0000-0002-1735-8178]


EEG with central epileptiform discharges

Focal epileptiform EEG discharges recorded in the central region. [ORCID:0000-0002-1735-8178]


EEG with parietal epileptiform discharges

Focal epileptiform EEG discharges recorded in the parietal region. [ORCID:0000-0002-1735-8178]


EEG with occipital epileptiform discharges

Focal epileptiform EEG discharges recorded in the occipital region. [ORCID:0000-0002-1735-8178]


EEG with centrotemporal epileptiform discharges

Focal epileptiform EEG discharges recorded in the centrotemporal region. [ORCID:0000-0002-1735-8178]


Autonomic aura
Vegetative aura
Autonomic auras

An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region. [ORCID:0000-0002-1735-8178, PMID:20926350]


Abnormality of the cerebral venous sinuses

Abnormal cerebral venous sinus morphology

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


Vesicoureteral reflux without dilation of the renal calyces (Grade I-II). [ORCID:0000-0002-2234-4248, PMID:18322164]


Vesicoureteral reflux with dilation of the renal calyces (Grade III - V). [ORCID:0000-0002-2234-4248, PMID:18322164]


Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction. [ORCID:0000-0002-2234-4248, PMID:18322164, PMID:19668250]


Severe vesicoureteral reflux reaching the kidney parenchyma. [ORCID:0000-0002-2234-4248, PMID:18322164, PMID:33738272]


A congenital defect characterized by lack of development of the macula. []


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


An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation. [PMID:29763183]


An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation. [PMID:29763183]


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


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


Abnormal left ventricular end-diastolic volume

Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole). [PMID:19159437, PMID:29446315]


Decreased left ventricular end-diastolic volume

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


Impaired renal tubular reabsorption of magnesium

Decreased renal tubular reabsorption of magnesium. [ORCID:0000-0002-2234-4248, PMID:25287933]


Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill anad ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload. [PMID:29506981]


Cessation of life at the age of 16 years or later. []


Death between the age of 40 and 60 years. [ORCID:0000-0002-6410-0882]


Death at an age of at least 60 years. [ORCID:0000-0002-6410-0882]


Abnormal single motor unit action potential

Abnormally high or low single motor unit action potential reading (-Pk Amps). [PMID:15961866]


Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography. [PMID:12934788]


An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography. [PMID:12934788]


Impaired renal tubular reabsorption of uric acid

Decreased renal tubular reabsorption of uric acid. [ORCID:0000-0002-2234-4248, PMID:27105641, PMID:31474092]


An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images. [PMID:31802270]


An additional cusp located in the middle of the occlusal surface. [PMID:31468724]


A tooth crown with convex mesial and distal surfaces. [PMID:31468724]


A tooth crown with a marked cervical area constriction. [PMID:31468724]


Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars. [PMID:31468724]


Applies to a sign or symptom that is provoked or brought about by eating cheese. [PMID:9398858]


A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations. [PMID:31468724]


Applies to a sign or symptom that is provoked or brought about by eating a certain food. []


A functional abnormality of a white blood cell. []


Defects of leukocyte migration
Abnormal leukocyte migration

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


During states of inflammation, white blood cells (leukocytes) play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. This term refers to a defect in the attachment of leukocytes to the blood vessel wall, which is a key step required before they can pass through gaps of the endothelial cells of the blood vessel wall to migrate to the site of inflammation. [PMID:23351991]


Abnormal circulating sex steroid concentration

Abnormal circulating gonadal steroid concentration

Abnormal circulating gonadocorticoid concentration

Abnormal circulating sex hormone concentration

Any deviation from the normal concentration of a sex hormone in the blood circulation []


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


Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa. [PMID:20055907]


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


Blistering with sub-lamina densa plane of cleavage

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


Abnormal epidermis stratum granulosum morphology

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


Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin. [PMID:30725734]


Increased circulating 17 hydroxypregnenolone concentration

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


Decreased circulating dihydrotestosterone concentration

A reduced concentration of dihydrotestosterone in the blood circulation. [PMID:20301592, PMID:31888681]


Abnormal circulating androstenedione concentration

Any deviation from the normal concentration of androstenedione in the blood circulation. []


Decreased circulating androstenedione concentration

Reduced concentration of androstenedione in the blood circulation. []


Situated or occurring around a lobe of an organ. []


Characterized by numerous small lesions said to resemble millet seed. []


Applies to an abnormality whose distribution and appearance are located at or near lymphatic structures (node or vessel). []


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


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


A type of inferior mediastinal mass that is located withinthe pericardium. []


A type of pulmonary mass with high attenuation. []


Thick-walled abnormal gas-filled interstitial mass within a lung with a diameter greater than 30 mm. [ORCID:0000-0002-4095-8489]


Elevated circulating interleukin-2 receptor alpha-chain

Elevated circulating soluble CD25 concentration

Increased concentration of the interleukin-2 receptor alpha-chain (CD25) in the blood circulation. CD25 is shed upon immune activation. Increased levels of soluble CD25, therefore, are an indication of an on-going immune response. [PMID:32619646]


Anomalous structure of a blood vessel in the kidney. []


Abnormal kidney arterial blood vessel morphology

An anomalous structure of an artery located in the kidney. []


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


Feeling excessively full after meals. [PMID:27781342]


Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis. [PMID:23643384]


The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages. [PMID:31024369]


Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction. [PMID:18004962]


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


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


Abnormal morphology of the interlobular vein lumen

Abnormal interlobular vein lumen morphology

Any structural anomaly located in the the inside space of the interlobular veins of the kidney. []


Cholesterol emboli within interlobular vein lumen

Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. [KPMP:arosenberg, PMID:27012950]


Intraluminal thrombi within interlobular veins

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


Organized thrombi within interlobular vein lumen

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


Abnormal cardiac magnetic resonance imaging finding

Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately. []


Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema. [PMID:18581348]


Delayed myocardial gadolinium enhancement

Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium. [PMID:20704762]


Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium. [PMID:21969014]


Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity. [PMID:24617686]


Formation of multiple pronuclei during fertilization

Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI. [PMID:26550358, PMID:31704776]


Impaired renal tubular reabsorption of bicarbonate

Decreased renal tubular reabsorption of bicarbonate. [ORCID:0000-0002-2234-4248, PMID:31474092]


A congenital human papillomavirus (HPV) infection of the newborn. Congential HPV infection can manifest as condyloma cuminata in the newborn. [PMID:20300545]


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


The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule. []


The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions. [PMID:24275244]


The presence of autoantibodies (immunoglobulins) in the serum that react against periplakin. [PMID:24275244]


The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1. []


The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-II. []


The presence of autoantibodies (immunoglobulins) in the serum that react against BP230. [PMID:32048350]


The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332. [PMID:21725315, PMID:24154702]


The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6. []


The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1. [PMID:24154702]


The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane. []


The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion moleculeswith 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth. [PMID:33483531]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6. []


The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180. []


The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion. [PMID:11180014]


The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin. [PMID:24052912]


The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin. [PMID:23365209]


The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII. [PMID:29619029]


A perception that one's body is moving or swaying despite lack of motion of the body. [PMID:29443215]


A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving). [PMID:27083889, PMID:32986636]


Decreased lymphocyte count during infections. [PMID:32569607]


Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction. [PMID:23533926]


Reduced proportion of mucosal-associated invariant T cells

A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count. [PMID:32161190]


Onset of a phenotypic abnormality or a disease during childbirth or in the period immediately following. []


Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response. [PMID:11420279]


A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis. [PMID:29617412]


A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. nPMID: 19634399 []


A structural defect associated with abnormal development of the lung. []


Abnormal pulmonary alveolar system development


Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen. [PMID:32048350]


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. [KPMP:arosenberg, PMID:32132388]


Abnormal structure of a vein located inside the kidney parenchyma. [KPMP:arosenberg]


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. [PMID:31781811]


The presence of autoantibodies in the blood circulation that react against histone H2A. [ORCID:0000-0002-4095-8489]


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

An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine. []


The presence of an increased number of twists and turns of lymphatic vessels. [PMID:26855770]


An abnormal strcutural of the zone (lobe) of the cerebral cortex that is located inferior to the lateral fissure on other cerebral hemispheres. []


Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness. [PMID:29095389]


The presence of atrophy (wasting) of the posterior portion of the corpus callosum. []


Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry. [HPO:19179952]


Marked hypotrichosis
Hypotrichosis
Sparse hair since birth
Decreased hair growth on body

Reduced density of hairs. [HPO:probinson, PMID:14676077]


Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta. []


Typical absence
Typical absence seizures

A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. [HPO:jalbers, PMID:28276060, PMID:28276062, PMID:28276064, PMID:6790275]


An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. [HPO:probinson]


A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma.


Anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR). [PMID:25979696, PMID:29225271]


Anti-carbonic anhydrase-related protein VIII antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII). [PMID:23568983, PMID:26377085]


Anti-collapsin response-mediated protein 5 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against collapsin response-mediated protein 5 (CRMP5). [PMID:28074593, PMID:31624089]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26). [PMID:26298328, PMID:28601293, PMID:30158896]

Anti-RhoGTPase-activating protein 26 antibody


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP). [PMID:28120349, PMID:30663514, PMID:32019875, PMID:32827972]

Anti-glial fibrillary acidic protein antibody


Anti-glutamate kainate receptor subunit 2 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2). [PMID:33949707]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ryanodine receptor. [PMID:30918333]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma2. [PMID:15179063, PMID:15215214, PMID:18223018, PMID:26664526, PMID:27460184, PMID:31044049, PMID:31454760]


Eosinophilic pulmonary infiltration
Pulmonary eosinophilic infiltration
Pulmonary eosinophilic infiltrate

The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia. [PMID:19618037, PMID:21428117]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against muscle-specific tyrosine kinase (MuSK). [PMID:29321424, PMID:32830177]

Anti-anti-muscle-specific tyrosine kinase antibody


Anti-CV2/collapsin response mediator protein (CRMP)5 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum. [PMID:18931014, PMID:31656691, PMID:32110228]


Anti-Neuronal Nuclear Antibody type-1 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu. [PMID:11344832, PMID:18931014, PMID:19015226, PMID:25764259, PMID:32851899]


Absent talus owing to a congenital defect. [PMID:28436373]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, ,an antineuronal antibody. [PMID:15179063, PMID:29332416, PMID:32170042]


Anti-delta/notch-like epidermal growth factor-related receptor antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr. [PMID:15179063, PMID:25745634, PMID:26377319]


The term fetal vascular malperfusion (FVM) is used to describe placental pathology that is throught to result from an obstruction in fetal blood flow that could result from a number of conditions (eg, umbilical cord lesions, hypercoagulability, complications of fetal cardiac dysfunction, such as hypoxia, etc.). [PMID:27223167]


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


Abnormal peritubular capillary morphology

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


Abnormal cortical peritubular capillary morphology

Anomalous structure of the peritubular capillaries located in the cortex of the kidney. []


Multilamellation of basement membranes within cortical peritubular capillaries

Multilamellation of cortical peritubular capillary basement membranes

Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers. [KPMP:arosenberg, PMID:21720964]


Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. [KPMP:arosenberg, PMID:25738252]


Abnormal cortical peritubular capillary lumen morphology

Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney. [KPMP:arosenberg]


Abnormal medullary peritubular capillary morphology

Anomalous structure of the peritubular capillaries located in the medulla of the kidney. [KPMP:arosenberg]


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


Medullary peritubular capillary erythrocyte congestion

Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open). [KPMP:arosenberg, PMID:28794065]