Abnormal germ cell morphology

description: Any structural anomaly of a reproductive cell.


Abnormal male germ cell morphology

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

description: A structural anomaly of a male reproductive cell.


Abnormal sperm morphology

description: A structural anomaly of sperm.


Abnormal sperm head morphology

description: A structural abnormality of the sperm head.


Abnormal sperm neck morphology

description: A structural abnormality of the sperm neck.


Abnormal sperm mid-piece morphology

description: A structural abnormality of the sperm mid-piece.


Abnormal sperm tail morphology

description: A structural abnormality of the sperm tail.


Acephalic spermatozoa

description: Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head.


Abnormal vas deferens morphology

description: A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct.


Absent vas deferens

description: Aplasia (congenital absence) of the vas deferens.


name: Abnormal male reproductive system physiology

description: An abnormal functionality of the male genital system.


Abnormal ejaculation

description: Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract.


Retrograde ejaculation

description: The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm.


Retarded ejaculation

description: Difficulty of a male in achieving orgasm.


Anejaculation

description: Inability to ejaculate.


Abnormal labia minora morphology

description: An anomaly of the labia minora, the folds of skin between the outer labia.


Abnormal labia majora morphology

description: An anomaly of the outer labia.


Hyperplastic labia majora

description: Overgrowth of the outer labia.


Fallopian tube cyst

description: A fluid filled sac located in the Fallopian tube.


Fallopian tube torsion

description: A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation.


Fallopian tube duplication

description: The presence of a supernumerary Fallopian tube.


Hemorrhagic ovarian cyst

description: An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst.


Ovarian serous cystadenoma

description: A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.


Abnormal uterine cervix morphology

description: An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.


Posteriorly placed anus

description: Posterior malposition of the anus.


High posterior hairline

description: Hair on the neck extends less inferiorly than usual.


Facial muscle hypertrophy

description: Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve).


Neck muscle hypertrophy

description: Muscle hypertrophy affecting the muscles of the neck.


Paraspinal muscle hypertrophy

description: Muscle hypertrophy affecting the paraspinal muscles.


Scapular muscle hypertrophy

description: Muscle hypertrophy affecting the scapular muscles.


Abnormal motor evoked potentials

description: An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways.


name: Abnormal upper-limb motor evoked potentials

description: An anomaly identified by motor evoked potentials (MEPs) in the arm.


name: Abnormal lower-limb motor evoked potentials

description: An anomaly identified by motor evoked potentials (MEPs) in the leg.


Handgrip myotonia

description: Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.


Myotonia of the face

description: Slowed relaxation of muscles in the face.


Myotonia of the jaw

description: Slowed relaxation of muscles in the jaw.


Myotonia of the lower limb

description: Slowed relaxation of muscles in the leg.


Myotonia of the upper limb

description: Slowed relaxation of muscles in the arm.


Cold-sensitive myotonia

description: An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold.


Ciliary body coloboma

description: A coloboma of the ciliary body.


Lower limb dysmetria

description: A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg.


Upper limb dysmetria

description: A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm.


Astasia

description: A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength.


Vertebrobasilar dolichoectasia

description: Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm.


Double elevator palsy

description: A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia.


Double depressor palsy

description: An ocular movement abnormality characterized by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye.


Vertical incomitant strabismus

description: A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards.


Esodeviation

description: A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.


Abnormal myeloid cell morphology

description: Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.


Reduced bone-marrow pro-B cell count

description: A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19.


Exodeviation

description: A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally.


name: Anti-granulocyte-macrophage colony stimulating factor antibody positivity

description: The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor.


Abnormal erythrocyte physiology

description: Any functional abnormality of erythrocytes (red-blood cells).


Abnormal red blood cell count

description: Any deviation from the normal number of red blood cells per volume in the circulation.


Increased red blood cell count

description: An abnormal elevation above the normal number of red blood cells per volume in the circulation.


Decreased red blood cell count

description: An abnormal reduction below the normal number of red blood cells per volume in the circulation.


Abnormal hemoglobin concentration

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


Decreased hemoglobin concentration

description: An abnormal reduction below normal hemoglobin concentration in the circulation.


Abnormal eosinophil count

description: Any deviation from the normal number of eosinophils per volume in the blood circulation.


Viremia

description: The presence of virus in the blood.


Persistent EBV viremia

description: Persistent presence of Epstein-Barr virus in the blood.


Hypopigmented macule

description: A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.


Crystalluria

description: The presence of crystals in the urine.


Leucine crystalluria

description: The presence of leucine crystals in the urine.


Wrist ganglion

description: A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule.


Carnitinuria

description: An elevated level of carnitine in the urine.


Alaninuria

description: An increased level of alanine in the urine.


Beta-alaninuria

description: An increased level of beta-alanine in the urine.


Erythrocyte inclusion bodies

description: Nuclear or cytoplasmic aggregates of substances in red blood cells.


Pappenheimer bodies

description: A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain).


Heinz bodies

description: A type of erythrocyte inclusion composed of denatured hemoglobin.


Furuncle

description: An infection of a hair follicle that extends subcutaneously, forming an abscess.


Infection following live vaccination

description: An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens.


BCGitis

description: Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.


BCGosis

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


Post-vaccination measles

description: Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases.


Post-vaccination rubella

description: Infection with the rubella virus of the live-attenuated vaccine.


Post-vaccination polio

description: Infection with live attenuated polio vaccine following vaccination. This is an extremely rare event that may indicate immunocompromise.


Post-vaccination rotavirus infection

description: Infection with live attenuated rotavirus vaccine following vaccination.


Recurrent deep organ abscess formation

description: Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ.


name: Prolonged need of intravenous antibiotic therapy

description: Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time.


Recurrent streptococcal infections

description: Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections.


Infection due to encapsulated bacteria

description: An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines.


Severe norovirus infection

description: An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals.


Unusual fungal infection

description: An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent.


Invasive fungal infection

description: Fungal infection characterized by invasion of host tissues.


Pneumocystis jirovecii pneumonia

description: An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing.


Invasive pulmonary aspergillosis

description: Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis.


Unusual protozoan infection

description: An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent.


Severe toxoplasmosis

description: Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs).


Severe giardiasis

description: An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide.


Unusual helminthic infection

description: An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth).


Unusual parasitic infection

description: An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite.


Bone fracture

description: A partial or complete breakage of the continuity of a bone.


name: Abnormal CD4+CD25+ regulatory T cell proportion

description: A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.


name: Increased proportion of CD4+CD25+ regulatory T cells

description: An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.


name: Decreased proportion of CD4+CD25+ regulatory T cells

description: An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.


name: Persistent human papillomavirus infection

description: Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease.


description: Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.


Radial artery aplasia

description: Congenital absence of the radial artery.


name: Abnormal retinal nerve fiber layer morphology

description: A structural abnormality of the retinal nerve fiber layer


Retinal nerve fiber edema

description: Swelling (edema) of the retinal nerve fibers.


name: Conception by assisted reproductive technology

description: A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation.


Bite cells

description: Red blood cells that appear to have parts of them bitten away.


Spontaneous conjunctival filtering bleb

description: Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma.


Prostate mass

description: A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.


Periarticular soft-tissue mass

description: A lump detected in the region that surrounds a joint. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.


Aplasia of the olfactory tract

description: Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell.


Abnormal urine protein level

description: Any deviation of the concentration of one or more proteins in the urine.


name: Increased urinary neutrophil gelatinase-associated lipocalin

description: An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter).


name: Abnormal tubular basement membrane morphology

description: Abnormal structure of the basement membrane of the renal tubulus.


name: Thickening of the tubular basement membrane

description: Increase in thickness of the basement membrane of the tubulus of the kidney.


Podocyte hypertrophy

description: Increased visceral epithelial cell size, with or without cytoplasmic protein droplets.


Increased urine neutrophil count

description: Abnormally increased count of neutrophils in urine.


Anticardiolipin IgG antibody positivity

description: The presence of circulating IgG autoantibodies to cardiolipin.


Anticardiolipin IgM antibody positivity

description: The presence of circulating IgM autoantibodies to cardiolipin.


History of recent animal bite

description: Medical history of a recent bite injury due to an animal.


History of recent insect bite

description: Medical history of a recent bite injury due to an insect.


History of recent tick bite

description: Medical history of a recent bite injury due to a tick.


name: Blood pressure substantially higher in legs than arms

description: An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.


name: Blood pressure substantially higher in arms than legs

description: An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.


Tracheal duplication cyst

description: A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium.


Calcium phosphate crystalluria

description: The presence of calcium phosphate crystals in the urine.


Calcium oxalate crystalluria

description: The presence of calcium oxalate crystals in the urine.


Calcium carbonate crystalluria

description: The presence of calcium carbonate crystals in the urine.


Increased circulating mead acid level

description: An abnormally elevated concentration od mead acid in the blood circulation.


Elevated circulating succinate

description: An increase concentration of succinate in the blood circulation.


Elevated urinary uromodulin level

description: The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for urine concentration, is above the upper limit of normal.


Anti-dsDNA antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA.


Distal joint hypermobility

description: Lack of stability of a distal joint (e.g., finger).


Positive blood 1,3 beta glucan test

description: Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis.


Abnormal oocyte morphology

description: An abnormal structure of the female germ cell (egg cell).


Abnormal zona pellucida morphology

description: Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida.


Thin zona pellucida

description: Reduced thickness of the zona pellucida.


name: Increased circulating adrenic acid concentration

description: An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation.


name: Reduced response to gonadotropin-releasing hormone stimulation test

description: Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels.


GM1-ganglioside accumulation

description: Cellular accumulation of GM1 gangliosides.


Cilioretinal artery occlusion

description: Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers.


Ophthalmic artery occlusion

description: A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs.


Branch retinal vein occlusion

description: Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels.


Hemiretinal vein occlusion

description: A variant of central retinal vein occlusions that involves the superior or inferior half of the retina.


Abnormal drug response

description: An anomalous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy.


Increased blood drug concentration

description: High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime.


Decreased blood drug concentration

description: Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime.


Adverse drug response

description: An unpleasant or harmful reaction resulting from treatment with a drug.


Reduced drug efficacy

description: Decreased response to a drug intervention in comparison to the expected response.


Refractory drug response

description: Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course.


name: Reduced circulating cholinesterase activity

description: Activity or concentration of cholinesterase in the blood circulation below the lower limit of normal.


Cholesterol crystalluria

description: The presence of cholesterol crystals in the urine.


name: Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells

description: An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.


Abnormal dendritic cell count

description: A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative).


name: Abnormal circulating haptoglobin concentration

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


Elevated haptoglobin level

description: An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation.


Reduced haptoglobin level

description: An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state.


name: Abnormal circulating A-type atrial natriuretic peptide concentration

description: A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.


name: Increased circulating A-type natriuretic peptide concentration

description: A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.


name: Decreased circulating A-type natriuretic peptide concentration

description: A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.


Superior cerebellar dysplasia

description: Abnormal morphological development of the superior part of the cerebellum.


Multilobulated spleen

description: The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen.


Thick pachygyria

description: Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.


name: Anterior predominant pachygyria with 5-10 mm cortical thickness

description: Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.


name: Posterior predominant thick cortex pachygyria

description: Pachygyria with cortical thickness above 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.


name: Perisylvian predominant thick cortex pachygyria

description: Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.


name: Anterior predominant thick cortex pachygyria

description: Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes.


name: Pachygyria with 5-10 mm cortical thickness

description: Pachygyria with a mildly thickened cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.


Prolonged reptilase time

description: An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds.


IgM heavy chain paraproteinemia

description: An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.


name: Increased circulating arachidonic acid concentration

description: An increased circulation of arachidonic acid in the blood circulation.


name: Abnormal circulating 18-hydroxycorticosterone level

description: Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation.


name: Decreased circulating 18-hydroxycortisone level

description: A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation.


name: Increased circulating 18-hydroxycortisone level

description: An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation.


Abnormal sarcomere morphology

description: Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z disks.


Abnormal Z disk morphology

description: Any structural anomaly of the Z disk, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.


Z-band streaming

description: Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disk may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change.


description: Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains.


Tubulointerstitial fungal infiltration

description: Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains.


Simple ear

description: The pinna has fewer folds and grooves than usual.


Reflex seizure

description: Seizures precipitated by exogenous stimuli.


Eating-induced seizure

description: A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period.


Hot water-induced seizure

description: A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger.


Praxis-induced seizure

description: A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making.


Proprioceptive-induced seizure

description: A seizure precipitated by movement or a change in posture.


Reading-induced seizure

description: A seizure precipitated by reading.


Somatosensory-induced seizure

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


Startle-induced seizure

description: Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus.


Thinking-induced seizure

description: Seizures induced by thinking and decision-making.


Visually-induced seizure

description: Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect.


Focal aware motor seizure

description: A type of focal motor seizure in which awareness is retained throughout the seizure.


Focal aware atonic seizure

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


Motor seizure

description: A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.


Focal atonic seizure

description: A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature.


Clonic seizure

description: A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.


Hypohomocysteinemia

description: A decreased concentration of homocysteine in the blood.


Dermal sinus tract

description: A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region.


Mammary duct ectasia

description: A non-proliferative inflammatory disorder of the large duct (milk duct) of the breast; as such, it affects nipple and areola complex. The condition is characterized by focal dilatation of the lactiferous duct system is due to endoluminal changes, as well as the loss of duct wall elastin, leading to abnormally dilated and tortuous lactiferous ducts with associated periductal inflammation and fibrosis. Mammary duct ectasia may present with nipple discharge or palpable mass.


Nipple tenderness

description: Pain or discomfort produced by touching the nipple.


Floating gallbladder

description: An abnormal configuration in which the gallbladder is pedunculated, hanging free of the liver, and attached only by the cystic mesentery,


Hallux rigidus

description: Osteoarthritis of the metatarsophalangeal joint of the first toe.


Thickening of glomerular capillary wall

description: Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself.


name: Abnormal glomerular capillary morphology

description: A structural anomaly of the capillary blood vessels in the renal glomerulus.


Ectopic fovea

description: An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina.


Tracheal tug on inspiration

description: Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree.


Forward slanting upper incisors

description: The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards.


Foveal atrophy

description: Partial or complete loss of foveal tissue that was once present.


Pyriform aperture stenosis

description: Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose.


Status cribrosum

description: Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations.


Decerebrate rigidity

description: A type of rigidity that is manifested by an exaggerated extensor posture of all extremities.


Subcutaneous spheroids

description: Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.


Abnormal capillary morphology

description: A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.


Capillary fragility

description: Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises).


Abnormal capillary physiology

description: A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.


Arterial rupture

description: Sudden breakage of an artery leading to leakage of blood from the circulation.


name: Elevated prostate-specific antigen level

description: An increased concentration of prostate specific antigen (PSA) in the circulation.


Abnormal erythrocyte sedimentation rate

description: A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.


name: Decreased erythrocyte sedimentation rate

description: A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.


Rectal atresia

description: A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum.


Megarectum

description: An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum.


Rectovestibular fistula

description: A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening.


H-type rectovestibular fistula

description: Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract.


name: Abnormal enteric nervous system morphology

description: A structural anomaly of nerves of the enteric nervous system.


Enteric neuronal degeneration

description: Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons.


name: Abnormality of digestive system physiology

description: A functional anomaly of the digestive system.


Abnormal digestive system morphology

description: A structural anomaly of the digestive system.


name: Abnormal morphology of erythroid progenitor cell

description: Abnormal form of the progenitor cells committed to the erythroid lineage.


Abnormal proerythroblast morphology

description: Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.


Hypothalamic gliosis

description: Focal proliferation of glial cells in the hypothalamus.


Intratesticular abscess

description: A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins.


Basal ganglia edema

description: Swelling within the basal ganglia due to the accumulation of fluid.


Thalamic edema

description: Swelling within the thalamus due to the accumulation of fluid.


Thalamic calcification

description: Calcium deposition in the thalamus.


Abnormality of mesenteric lymph nodes

description: A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery.


Enlarged mesenteric lymph node

description: Increase in size of one or more mesenteric lymph nodes.


Abnormal brain lactate level by MRS

description: A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).


Reduced brain lactate level by MRS

description: A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).


Abnormal brain choline level by MRS

description: A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).


Reduced brain choline level by MRS

description: An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).


Elevated brain creatine level by MRS

description: An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).


Reduced brain creatine level by MRS

description: A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).


name: Abnormal brain N-acetyl aspartate level by MRS

description: A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).


name: Elevated brain N-acetyl aspartate level by MRS

description: An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).


Abnormal olfactory lobe morphology

description: A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell.


Hypothalamic atrophy

description: Partial or complete wasting (loss) of hypothalamus tissue that was once present.


Multifocal splenic abscess

description: Multiple abscess lesions in the spleen.


Unifocal splenic abscess

description: Single (solitary) abscess in the spleen.


Geophagia

description: The practice of eating earth or soil-like substrates such as clay or chalk.


Scaphoid abdomen

description: The anterior abdominal wall is sunken and presents a concave rather than a convex contour.


Thalamic hemorrhage

description: Bleeding in the thalamus.


Abnormal mean corpuscular volume

description: A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters.


Decreased mean corpuscular volume

description: A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).


Incomitant strabismus

description: Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort.


Concomitant strabismus

description: Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing.


Abnormal U wave

description: An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3.


U wave inversion

description: Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves.


Prominent U wave

description: Increased amplitude of the U wave, defined as an amplitude greater than 1-2mm or 25 percent of the height of the T wave.


Exercise-induced U wave inversion

description: U wave inversion that is induced by exercise stress testing.


Abnormal QRS complex

description: An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram.


Increased QRS voltage

description: Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm).


Abnormal QRS voltage

description: Abnormal amplitude of the QRS complex of the electrocardiogram (EKG).


Decreased QRS voltage

description: Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm.


Electrical alternans

description: The QRS complexes of the electrocardiogram alternate in height.


Pancreatic abscess

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


Orthokeratotic hyperkeratosis

description: A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.


Darier's sign

description: A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP.


name: Abnormal cutaneous elastic fiber morphology

description: Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils.


Elevated dermal desmosine content

description: An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin.


Bloody diarrhea

description: Passage of many stools containing blood.


Bloody mucoid diarrhea

description: Passage of many stools containing blood and mucus.


Delayed recoil upon stretching of skin

description: Area of skin requiring an increased amount of time to return to its original shape after being stretched.


Onychomadesis

description: Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth.


Feculent vomiting

description: Vomiting of material that is of fecal origin.


name: Abnormal large intestinal mucosa morphology

description: A structural anomaly of the mucous lining of the large intestine.


Epidermal acanthosis

description: Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).


Peripapillary exudate

description: A retinal exudate in the area surrounding the optic nerve head.


Disciform macular scar

description: A subretinal scar with a disc-like shape in the region of the macula.


Sneeze

description: A sudden violent, spasmodic, audible expiration of breath through the nose and mouth.


Paroxysmal sneezing

description: Unprovoked explosive pathological sneezing.


Eyelid myoclonus

description: Marked, involuntary jerking of the eyelids.


Dysgenesis of the hypothalamus

description: Structural abnormality of the hypothalamus related to defective development.


Dysgenesis of the thalamus

description: Structural abnormality of the thalamus related to defective development.


Abnormal hippocampus morphology

description: Any structural anomaly of the hippocampus,


Dysgenesis of the hippocampus

description: Structural abnormality of the hippocampus related to defective development.


Dysgenesis of the basal ganglia

description: Structural abnormality of the basal ganglia related to defective development.


Umbilicated nodule

description: A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated).


Nevus roseus

description: A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life.


Angioma serpentinum

description: Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis.


Reduced red cell pyruvate kinase level

description: Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate.


Placoid macular lesion

description: Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula.


Auditory sensitivity

description: Decreased tolerance to sound.


Misophonia

description: Misophonia is characterized by strong physiological, emotional, and behavioral reactions to auditory, visual, and/or kinesthetic stimuli of different nature regardless of their physical characteristics. These misophonic responses include anger, general discomfort, disgust, anxiety, and avoidance and escape behaviors.


Hypergranulosis

description: Hypergranulosis is an increased thickness of the stratum granulosum.


Civatte bodies

description: Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant


Fetal distress

description: An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.


Rete ridge flattening

description: Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance.


Lip discoloration

description: Lightening or darkening of the lips from their usual coloring.


Violet lip discoloration

description: An alteration of the color of the lip to take on a violet color. This term does not include cyanosis.


Sawtooth acanthosis

description: A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis.


White streaks/specks on enamel.

description: Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks.


Fragile teeth

description: A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma.


White lesion of the oral mucosa

description: White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white.


Reduced intraabdominal adipose tissue

description: An abnormally reduced amount of adipose tissue in the abdominal cavity.


name: Abnormal small intestinal mucosa morphology

description: A structural anomaly of the mucous lining of the small intestine.


name: Decreased small intestinal mucosa lactase level

description: Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges.


Finger swelling

description: Enlargement of the soft tissues of one or more fingers.


Abnormal circulating estrogen level

description: A deviation from normal concentration of the hormone estrogen in the blood circulation.


Abnormal serum estradiol

description: A deviation from normal concentrations of estradiol in the circulation.


Increased serum estradiol

description: An elevation above normal limits of the concentration of estradiol in the circulation.


Abnormal serum estriol

description: A deviation from normal concentration of estriol in the circulation.


Increased serum estriol

description: An elevation above normal limits of estriol concentration in the circulation.


Decreased serum estriol

description: A reduction below normal limits of estriol in the circulation.


Abnormal serum estrone

description: A deviation from the normal concentration of circulating estrone.


Increased serum estrone

description: An elevation above normal limits of the concentration of estrone in the circulation.


Decreased serum estrone

description: A reduction below normal limits of the concentration of estrone in the circulation.


Gingival calcification

description: Ectopic deposition of calcium salts found in the gingiva.


Constitutional symptom

description: A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.


Chills

description: A sudden sensation of feeling cold.


Shivering

description: Involuntary contraction or twitching of the muscles.


Rigors

description: Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever.


Foveal degeneration

description: Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina.


Beaten bronze macular sheen

description: A shiny appearance of the macula, which is often called a beaten bronze appearance.


Dark choroid

description: A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid).


Atrophic muscularis propria

description: Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis.


Hypoganglionosis

description: Sparse and small myenteric ganglia


Ganglioneuromatosis

description: Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers.


Poor visual behavior for age

description: Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones.


Portosystemic collateral veins

description: Presence of biliary veins that serve as a collateral channel to the systemic circulation


name: Abnormality of hepatobiliary system physiology

description: A functional anomaly of the hepatobiliary system


Dependency on intravenous nutrition

description: Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status.


Increased urinary sedoheptulose

description: An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group.


Hyperautofluorescent retinal lesion

description: Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.


Hypoautofluorescent retinal lesion

description: Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.


Abnormal temper tantrums

description: Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums.


Frequent temper tantrums

description: Temper tantrums that occur more frequently compared to the temper tantrums that are a part of the normal developmental process.


Severe temper tantrums

description: Temper tantrums, which occur with more severe symptomatology compared to a temper tantrum that occurs as a part of normal developmental process.


Abnormal optic chiasm morphology

description: A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves.


name: Increased number of elastic fibers in the dermis

description: An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods.


name: Clumping of elastic fibers in the dermis

description: Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis).


Thickened elastic fibers in the dermis

description: An increase of the diameter of elastic fibers in the dermis.


Fragmented elastic fibers in the dermis

description: Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers.


Left ventricular diastolic dysfunction

description: Abnormal function of the left ventricule during left ventricular relaxation and filling.


Left ventricular systolic dysfunction

description: Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.


name: Smooth septal thickening on pulmonary HRCT

description: Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa.


name: Nodular septal thickening on pulmonary HRCT

description: Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa.


name: Irregular septal thickening on pulmonary HRCT

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


Honeycomb lung

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


Intralobular interstitial thickening

description: A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance.


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


Subpleural interstitial thickening

description: Increase in thickness of the subpleural interstitium.


Ground-glass opacification

description: On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured.


name: Centrilobular ground-glass opacification on pulmonary HRCT

description: A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules.


Abdominal aseptic abscess

description: An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently.


Localized area of pendulous skin

description: A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region.


name: Bilateral tonic-clonic seizure with generalized onset

description: A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.


name: Subtentorial periventricular white matter hyperdensity

description: Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum).


Posterolateral diaphragmatic hernia

description: A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity.


Morgagni diaphragmatic hernia

description: An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity.


Central diaphragmatic hernia

description: A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present.


Increased total iron binding capacity

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


Inflammatory cap polyp

description: A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp.


name: Muscle fiber actin filament accumulation

description: Accumulation in muscle cells of filaments composed of actin.


name: Abnormal circulating apolipoprotein concentration

description: A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation.


name: Elevated circulating apolipoprotein A-IV concentration

description: An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II.


Caput medusae

description: Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins.


Triggered by carbohydrate ingestion

description: Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates.


Triggered by fructose ingestion

description: Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose.


Triggered by glucose ingestion

description: Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose.


Triggered by galactose ingestion

description: Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose.


Abnormal synovial bursa morphology

description: A structural anomaly of a synovial bursa.


Sleep paralysis

description: An inability to move the body at the onset of sleep or upon awakening from sleep, lasting for seconds to a few minutes.


Parasomnia

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


NREM parasomnia

description: A parasomnia that occurs during non-rapid eye movement (NREM) sleep.


Confusional arousal

description: A nocturnal episode is characterized by disorientation, grogginess, and, at times, significant agitation upon awakening from slow-wave sleep or following forced awakenings.


Foot pain

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


Subhyaloid hemorrhage

description: A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area.


Preretinal hemorrhage

description: An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.


Flame-shaped retinal hemorrhage

description: A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells).


Dot-and-blot retinal hemorrhage

description: Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location.


Subretinal hemorrhage

description: Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium.


name: Subretinal pigment epithelium hemorrhage

description: An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane.


Cutaneous cyst

description: A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material.


Eruptive vellus hair cyst

description: A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge.


Comedo

description: A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).


Closed comedo

description: A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead.


Open comedo

description: A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black.


Claustrophobia

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


Stiff neck

description: A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side.


Stiff elbow

description: A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity.


Stiff wrist

description: A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity.


Stiff finger

description: A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity.


Stiff hip

description: A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity.


Stiff knee

description: A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity.


Stiff ankle

description: A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity.


Stiff toe

description: A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity.


Snoring

description: Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping.


Panic attack

description: A sudden episode of intense fear in a situation where there is no danger or apparent cause.


Abnormal esophagus physiology

description: Any physiological abnormality of the esophagus.


Melasma

description: Symmetrical, blotchy, brownish facial pigmentation.


Achilles tendonitis

description: Inflammation of the Achilles tendon.


Abnormality of skin adnexa physiology

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


Cold-induced sweating

description: Sweating provoked by cold temperature rather than by heat.


Dull

description: Applied to pain that is dull, i.e., not severe but that continues over a long period of time.


Aggravated by

description: An aggravating factor is defined as an external factor that leads to a sign or symptom that is already present getting worse or becoming more severe.


Aggravated by activity

description: Applied to a sign or symptom that is aggravated by activity, exertion, or exercise.


Cervical lymphadenopathy

description: Enlarged lymph nodes in the neck.


Malar rash

description: An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.


Abnormal pupil shape

description: A deviation from the normal circular shape of the pupil


Oval pupil

description: An abnormal pupil shape that is elliptical, i.e., egg-like.


Anterior chamber cyst

description: A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material.


Esophoria

description: A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.


Exophoria

description: A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia.


Choroidal nevus

description: A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia.


Exacerbated by head trauma

description: Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma.


Cubitus varus

description: A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body.


name: Leakage of dye on fundus fluorescein angiography

description: Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins.


Copper accumulation in liver

description: An anomalous build up of copper (Cu) in the liver.


Venous occlusion

description: Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein.


Abnormal arterial physiology

description: An anomaly of arterial function.


Arterial occlusion

description: Blockage of blood flow through an artery.


Sparse medial eyebrow

description: Decreased density/number and/or decreased diameter of medial eyebrow hairs.


Decreased renal parenchymal thickness

description: Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans.


Antepartum hemorrhage

description: Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby.


name: Anti-glutamic acid decarboxylase antibody positivity

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


Downgaze palsy

description: A limitation of the ability to direct one's gaze below the horizontal meridian.


Upgaze palsy

description: A limitation of the ability to direct one's gaze above the horizontal meridian.


Abnormality of foot cortical bone

description: An anomaly of the outer shell (cortex) of a foot bone.


Cortical thinning of foot bones

description: A reduction in the thickness of the outer shell (cortex) of foot bones.


Delayed ability to stand

description: A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months.


Delayed ability to sit

description: A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.


Red eye

description: A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.


Circumlimbal hyperemia

description: A ring of redness at the limbus of the eye, the border between the cornea and the sclera.


Superficial episcleral hyperemia

description: Prominence of blood vessels of the superficial episcleral tissues.


Deep episcleral hyperemia

description: Prominence of blood vessels of the deep episcleral tissues.


Corneal keratic precipitates

description: An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea.


Lupus anticoagulant

description: Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces.


Interlobular bile duct destruction

description: Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).


name: Abnormality of circulating beta-2-microglobulin level

description: A deviation from the normal concentration of beta-2-microglobulin in the blood.


name: Increased circulating beta-2-microglobulin level

description: Elevated concentration of beta-2-microglobulin in the blood.


name: Decreased circulating beta-2-microglobulin level

description: Reduced concentration of beta-2-microglobulin in the blood.


Abnormal corneal limbus morphology

description: An anomaly of the margin of the cornea overlapped by the sclera.


Limbal edema

description: Swelling of the margin of the cornea overlapped by the sclera.


Giant conjunctival papillae

description: Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein.


Recurrent interdigital mycosis

description: A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers.


name: Anti-multiple nuclear dots antibody positivity

description: A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells.


Abnormal cellular phenotype

description: An anomaly of cellular morphology or physiology.


Retinal arterial macroaneurysms

description: Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative.


Erratic myoclonus

description: A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous.


Uveal ectropion

description: Presence of iris pigment epithelium on the anterior surface of the iris.


Polygonal renal calices

description: An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance).


Polycalycosis

description: Increased number of calices of the kidney.


Abnormal medullary pyramid morphology

description: A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.


Renal medullary pyramid hypoplasia

description: Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.


description: Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina.


description: Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells.


Abnormal growth plate morphology

description: A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone).


Thick growth plates

description: Increased thickness (dimension along the axis of the bone) of the growth plate.


Abnormal ossification of the sacrum

description: Abnormal bone tissue formation (ossification) affecting the sacrum.


Delayed ossification of the sacrum

description: Formation of the sacrum bone tissue occurs later than age-adjusted norms.


Loud snoring

description: Snoring at a particularly loud or abnormally high volume.


Interictal EEG abnormality

description: Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge.


Duplicated odontoid process

description: The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates.


Orthotopic os odontoideum

description: Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus.


Hyperglutaminuria

description: An increased concentration of glutamine in the urine.


name: Anti-thyroid peroxidase antibody positivity

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


name: Increased circulating androstenedione concentration

description: Increased concentration of androstenedione in the blood circulation.


Anti-pituitary antibody positivity

description: Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function.


Hypodipsia

description: Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake.


Dorsocervical fat pad

description: An area of fat accumulation at the back of the neck in the form of a hump.


name: Diet-resistant subcutaneous adipose tissue

description: Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.


name: Diet-resistant subcutaneous adipose tissue below waist

description: Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.


Bitemporal hollowing

description: Depression of profile in both temporal regions.


Pill-rolling tremor

description: A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other.


Thyroid nodule

description: A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland.


name: Pulmonary interstitial high-resolution computed tomography abnormality

description: High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities.


Reticular pattern on pulmonary HRCT

description: On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh.


Crazy paving pattern

description: The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia.


Nodular pattern on pulmonary HRCT

description: A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.


name: Reticulonodular pattern on pulmonary HRCT

description: Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography.


Cystic pattern on pulmonary HRCT

description: On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema.


name: Combined cystic and ground-glass pattern on pulmonary HRCT

description: Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography,


name: Decreased attenuation pattern on pulmonary HRCT

description: Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography.


name: Mosaic attenuation pattern on pulmonary HRCT

description: A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography.


name: Nodular-perilymphatic pattern on pulmonary HRCT

description: A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution.


name: Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT

description: A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree.


name: Nodular-random pattern on pulmonary HRCT

description: A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern.


Staring gaze

description: An abnormality in which the eyes are held permanently wide open.


Square-wave jerks

description: Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion.


Stooped posture

description: A habitual positioning of the body with the head and upper back bent forward.


Abnormal visual fixation

description: Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location.


Visual fixation instability

description: A deficit in the ability to fixate eye movements in order to stabilize images on the retina


Asthenia

description: A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.


Rectourethral fistula

description: An abnormal connection (fistula) between the rectum and the urethra.


Abnormal spleen morphology

description: Any anomaly of the structure of the spleen.


Abnormal spleen physiology

description: Any anomaly of the function of the spleen.


Splenogonadal fusion

description: Joining of the spleen and a gonad during embryological development.


Fossa navicularis urethral stricture

description: A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis.


Pendulous urethral stricture

description: A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa.


Bulbar urethral stricture

description: A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis.


Vaginal stricture

description: A narrowing of the vagina owing to scar formation.


Patulous urethra

description: Urethra more open or expanded than normal.


Pulmonary pneumatocele

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


Pneumomediastinum

description: The presence of free air in the mediastinum.


Pleural cyst

description: A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance.


Abnormal larynx morphology

description: Any anomaly of the structure of the larynx.


Abnormal larynx physiology

description: Any anomaly of the function of the larynx.


Laryngospasm

description: A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.


Abnormal bronchus morphology

description: Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.


Abnormal bronchus physiology

description: Any anomaly of the function of the bronchi.


Abnormal cry

description: Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation.


High-pitched cry

description: A type of crying in an abnormally high-pitched voice.


Staccato cry

description: A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations.


name: Decreased lecithin cholesterol acyl transferase level

description: Reduced level of the enzyme lecithin cholesterol acyl transferase.


Reduced circulating CH50 activity

description: A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum.


name: Increased circulating lactate dehydrogenase concentration

description: An elevated level of the enzyme lactate dehydrogenase in the blood circulation.


Elevated serum 11-deoxycortisol

description: Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone.


Macrozoospermia

description: Increased size of the head of sperm.


Warm reactive autoantibody positivity

description: Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C.


Achilles tendon calcification

description: Ectopic deposition of calcium salts in the Achilles tendon.


Abnormal cardiac atrial physiology

description: An abnormality of the function of the cardiac atria.


Reduced amygdala volume

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


Abnormal papillary muscle morphology

description: Any structural anomaly of the papillary muscles of the left ventricle.


name: Anomalous insertion of papillary muscle directly into anterior mitral leaflet

description: A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet.


Displacement of the papillary muscles

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


name: Anterior displacement of the papillary muscles

description: Abnormally anterior location of the papillary muscles of the left ventricle.


name: Apically displaced anterolateral papillary muscle

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


Testicular adrenal rest tumor

description: Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm.


Delayed adrenarche

description: Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development.


Abnormal CSF metabolite concentration

description: Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.


name: Decreased CSF 5-hydroxyindolacetic acid concentration

description: 5-HIAA (5-hydroxyindolacetic acid) concentration in the cerebrospinal fluid (CSF) is below the lower limit of normal.


Abnormal CSF protein concentration

description: Any deviation from the normal range of a protein concentration in the cerebrospinal fluid.


Decreased CSF protein concentration

description: CSF total protein level is below the lower limit of normal.


Decreased CSF albumin concentration

description: CSF albumin level is below the lower limit of normal.