Unhappy demeanor

description: A noticeably unhappy disposition is characterized by negative assumptions, self-defeating talk, fear of failure, and negative rumination about past events.


Suicidal ideation

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

description: Frequent thoughts about or preoccupation with killing oneself.


Enlarged Eustachian valve

description: An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava.


Abnormal PR interval

description: An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds.


PR segment depression

description: A reduction in voltage of the PR segment below baseline.


Abnormal P wave

description: Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria.


Abnormal PR segment

description: An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric.


PR segment elevation

description: An increase in voltage of the PR segment above baseline.


Notched P wave

description: V-shaped cut (notch) in the middle of the P wave.


P mitrale

description: A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II.


P wave inversion

description: P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves.


P pulmonale

description: The presence of tall, peaked P waves in EKG lead II.


Abnormal mucociliary clearance

description: An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary beating.


Impaired nasal mucociliary clearance

description: An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes.


Agenesis of the carotid canal

description: A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.


Abnormality of fundus pigmentation

description: Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve.


Retinal cotton wool spot

description: Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.


Geographic atrophy

description: Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium.


Recurrent shoulder dislocation

description: Shoulder dislocation occurring repeated times.


Sub-inner limiting membrane hemorrhage

description: A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer.


Inferior chorioretinal coloboma

description: Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus.


Inferior retinal coloboma

description: A notch or cleft of the lower part of the retina.


Anterior chamber flare

description: An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber.


Anterior chamber flare grade 1+

description: Faint anterior chamber flare.


Anterior chamber flare grade 2+

description: Moderate anterior chamber flare (iris and lens details clear).


Anterior chamber flare grade 3+

description: Marked anterior chamber flare (iris and lens details hazy).


Anterior chamber flare grade 4+

description: Intense anterior chamber flare (fibrin/plastic aqueous).


Brow ptosis

description: Drooping of the upper eyebrow below the superior orbital rim.


Moderate myopia

description: A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters.


Pseudoaneurysm

description: A contained rupture of an artery with a disruption in all 3 layers of the arterial wall.


Coronary ostial atresia

description: Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve.


Globus pallidus calcification

description: Pathological deposition of calcium salts in the globus pallidus.


Aborted sudden cardiac death

description: Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it.


Impaired tandem gait

description: Reduced ability to walk in a straight line while placing the feet heel to toe.


Abnormal subpleural morphology

description: Any structural anomaly located between the pleura and the chest wall.


Subpleural honeycombing

description: So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space.


name: Anomalous origin of the right subclavian artery from the descending aorta

description: Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery.


Isolation of the left subclavian artery

description: The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus.


name: Anomalous origin of the left common carotid artery from the main pulmonary artery

description: The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery.


name: Anomalous origin of the left common carotid artery from the brachiocephalic artery

description: The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery.


name: Anomalous origin of the right common carotid artery from the aorta

description: The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta.


Right coronary artery ostial atresia

description: Absence of the normal opening of the coronary ostium from which the right main coronary artery originates.


name: Anomalous origin of the left anterior descending artery from the pulmonary artery

description: The left anterior descending artery (LAD) branches off from the pulmonary artery.


Absent left main coronary artery

description: The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava.


Abnormal radial artery morphology

description: Any structural anomaly of the radial artery.


name: Fusiform ascending tubular aorta aneurysm

description: A concentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves the full circumference of the vessel wall.


Fusiform abdominal aortic aneurysm

description: A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall


Saccular abdominal aortic aneurysm

description: An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall.


Fusiform aortic arch aneurysm

description: A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall.


Saccular aortic arch aneurysm

description: An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall.


Penetrating aortic ulcer

description: A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture.


Aortic rupture

description: Tearing of the aortic wall generally associated with profuse internal bleeding.


name: Abnormal atrioventricular valve physiology

description: Any functional defect of the mitral or tricuspid valve.


Abnormal tricuspid valve physiology

description: Any functional defect of the tricuspid valve.


Abnormal heart valve physiology

description: Any functional abnormality of a cardiac valve.


Abnormal pulmonary valve physiology

description: Any functional anomaly of the pumonary valve.


Quadricuspid aortic valve

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


description: Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole.


Abnormal heart sound

description: Any abnormal noise generated by the beating heart.


Third heart sound

description: The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients.


Fourth heart sound

description: The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction.


Loud first heart sound

description: Abnormally increased volume of the first heart sound.


Abnormal second heart sound

description: Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration.


name: Fixed splitting of the second heart sound

description: Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration.


name: Paradoxical splitting of the second heart sound

description: Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern).


Systolic heart murmur

description: A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.


Midsystolic murmur

description: A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern.


Late systolic murmur

description: A murmur that occurs in the latter phase of systole.


Holosystolic murmur

description: A heart murmur that occurs during the entire systolic phase from S1 to S2.


Diastolic heart murmur

description: A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1.


Middiastolic murmur

description: A murmur that occurs in the middle of the diastolic phase.


Continuous heart murmur

description: A murmur that occurs in both systole and diastole.


Typical atrial flutter

description: Typical atrial flutter is an organized atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative.


Reverse typical atrial flutter

description: A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1.


name: Orthodromic atrioventricular reentrant tachycardia

description: A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction.


name: Antidromic atrioventricular reentrant tachycardia

description: A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction.


Fascicular left ventricular tachycardia

description: A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG).


Monomorphic ventricular tachycardia

description: A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so).


Atherosclerotic lesion

description: A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus.


Type I atherosclerotic lesion

description: Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells).


Type II atherosclerotic lesion

description: Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid.


Type III atherosclerotic lesion

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


Type V atherosclerotic lesion

description: Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant.


Type VI atherosclerotic lesion

description: Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes.


Abnormal stool composition

description: Abnormal level of metabolite or other abnormal analyte result in a stool test.


name: Increased stool alpha1-antitrypsin concentration

description: An abnormally elevated amount of alpha1-antitrypsin in the feces.


name: Abnormally loud pulmonic component of the second heart sound


Erythroid dysplasia

description: Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts.


Megakaryocyte dysplasia

description: The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei.


Opportunistic infection

description: An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system.


Severe viral infection

description: An unusually severe viral infection.


Severe cytomegalovirus infection

description: An unusually severe infection by cytomegalovirus.


Severe Epstein Barr virus infection

description: An unusually severe Epstein Barr virus (EBV) infection.


Severe adenovirus infection

description: An unusually severe adenovirus infection.


Severe parainfluenza infection

description: An unusually severe infection by a parainfluenza virus.


Disseminated viral infection

description: A viral infection that fails to be contained by the immune sytem and spreads throughout the body.


name: Disseminated infection with live vaccine virus

description: A dissemination viral infection caused by a live attenuated vaccine virus.


Disseminated cryptosporidium infection

description: Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body.


Invasive parasitic infection

description: A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host.


Anterior chamber inflammatory cells

description: The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye.


Anterior chamber red blood cells

description: The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye.


Abnormal ear morphology

description: Any structural anomaly of the ear.


Abnormal ear physiology

description: Any functional anomaly of the ear.


Compensatory head posture

description: A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem.


Compensatory chin depression

description: A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement.


Compensatory face turn to the right

description: A tendency to turn the face to the right to compensate for a limitation of eye movement.


Compensatory face turn to the left

description: A tendency to turn the face to the left to compensate for a limitation of eye movement.


name: Compensatory head tilt to the right shoulder

description: A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement.


name: Compensatory head tilt to the left shoulder

description: A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement.


Asymmetric abdominal aortic aneurysm

description: An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric).


Constant exotropia

description: A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times.


Distance exotropia

description: A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent.


Near exotropia

description: An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant).


Cyclic exotropia

description: A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle.


Consecutive exotropia

description: Exotropia in an individual who has previously had esotropia or esophoria.


True distance exotropia

description: Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits.


Simulated distance exotropia

description: Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation.


Sensory exotropia

description: A type of divergent strabismus (exotropia) that develops in a poorly seeing eye.


Near esotropia

description: An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved.


Secondary esotropia

description: Convergent squint which follows loss or impairment of vision.


Microtropia

description: A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs.


Hypophoria

description: A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards.


Incyclotropia

description: A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other.


Excyclotropia

description: A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other.


Mild hypermetropia

description: A form of hypermetropia with not more than +2.00 diopters.


Moderate hypermetropia

description: A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters.


Axial myopia

description: A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye.


Increased tear production

description: Increased lacrimation owing to overproduction of tears.


Increased basal tear production

description: A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance.


Reflex tearing

description: A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease).


Lacrimal pump failure

description: A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion.


Abnormal oblique muscle physiology

description: A functional anomaly of the inferior or superior oblique muscle.


name: Abnormal horizontal rectus muscle physiology

description: A functional anomaly of the medial rectus muscle or lateral rectus muscle.


Inferior oblique muscle underaction

description: Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.


Inferior rectus muscle underaction

description: Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.


Inferior rectus muscle overaction

description: Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.


Superior rectus muscle weakness

description: Decreased strength of the superior rectus muscle.


Superior rectus muscle overaction

description: Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.


Superior rectus muscle restriction

description: Mechanical limitation of the range of movement of the superior rectus muscle.


Superior rectus muscle underaction

description: Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.


name: Abnormal vertical rectus muscle physiology

description: A functional anomaly of the superior or inferior rectus muscle.


name: Abnormal lateral rectus muscle physiology

description: A functional anomaly of the lateral rectus muscle.


Lateral rectus muscle weakness

description: Decreased strength (ability to move) of the lateral rectus muscle.


Lateral rectus muscle underaction

description: Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.


Lateral rectus muscle overaction

description: Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.


Medial rectus muscle weakness

description: Decreased strength of the medial rectus muscle.


Medial rectus muscle overaction

description: Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.


Abnormal rectus muscle physiology

description: A functional anomaly of a vertical or horizontal rectus muscle.


Medial rectus muscle underaction

description: Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.


Medial rectus muscle restriction

description: Mechanical limitation of the range of movement of the medial rectus muscle.


Lateral rectus muscle restriction

description: Mechanical limitation of the range of movement of the lateral rectus muscle.


Basic constant esotropia

description: A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times).


Non-accomodative esotropia

description: A form of esotropia in which the angle of deviation is not affected by accommodative effort.


Infantile constant esotropia

description: Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction.


Distance esotropia

description: An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging.


Cyclic esotropia

description: Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle.


Fully accomodative esotropia

description: Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction.


Partially accomodative esotropia

description: A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses.


Convergence excess esotropia

description: An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio.


Consecutive esotropia

description: Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection.


Parafoveal fixation

description: Fixation of an object in the area adjacent to the fovea.


Peripheral fixation

description: Fixation of an object in a peripheral area of the retina.


Epicanthus palpebralis

description: A type of epicanthus in which a medial vertical fold is present between upper and lower lids.


Epicanthus tarsalis

description: A type of epicanthus in which a primarily upper lid fold is present.


name: Abnormal posterior circulating artery morphology

description: Any structural anomaly of the posterior circulating artery (PCOM).


Posterior communicating artery aneurysm

description: A widening (ballooning) localized in the wall of the posterior communicating artery.


name: Posterior communicating artery infundibulum

description: A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery.


Cyclophoria

description: A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation.


Incyclophoria

description: A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other.


Excyclophoria

description: A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other.


Eosinophilic ascites

description: A type of ascites in which there are large numbers of eosinophils in the ascitis fluid.


Microtropia with identity

description: A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC.


Microtropia without identity

description: A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test.


Abnormal ascending aorta morphology

description: Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise.


Abnormal eyelid movement

description: An abnormality in voluntary or involuntary eyelid movements or their control.


Cogan lid twitch

description: Transient eyelid retraction during refixation from down to straight ahead.


Oblique astigmatism

description: Astigmatism in which the refractive power of the vertical meridian is the greatest.


With the rule astigmatism

description: Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest).


Against the rule astigmatism

description: Astigmatism with more plus power on the horizontal meridian.


Mixed astigmatism

description: A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted).


Lenticular astigmatism

description: A type of astigmatism related to an irregular shape of the lens.


Increased serum leptin

description: An increased concentration of leptin in the blood.


Decreased circulating glycerol level

description: A decrease below the normal concentration of glycerol in the blood.


Abnormal circulating glycerol level

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


Clinical course

description: The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual.


name: Elevated circulating apolipoprotein B concentration

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


name: Decreased circulating apolipoprotein A-I concentration

description: Concentration of apolipoprotein A-I below the lower limit of normal. Apolipoprotein A-I is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease.


name: Elevated circulating apolipoprotein A-II concentration

description: An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism.


Vocal cord dysfunction

description: Any functional anomaly of the vocal cord.


Fundus hemorrhage

description: Bleeding within the fundus of the eye.


Intraretinal hemorrhage

description: A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal hemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina.


Abnormal basophil count

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


Increased basophil count

description: An abnormally increased count of basophils per volume in the blood circulation.


Decreased basophil count

description: An abnormally reduced count of basophils per volume in the blood circulation.


Archibald's sign

description: Shortening of the fourth and fifth metacarpals when the fist is clenched.


Anti-ganglioside antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides.


Bilirubinuria

description: Presence of conjugated bilirubin in the urine.


Nitrituria

description: Presence of nitrites in the urine.


Palilalia

description: Palilalia is the involuntary repetition of one's own phrases, words, or syllables 2 or more times in a row. Typically, palilalic utterances decrease in volume with the increasing number of repetitions. Sometimes, the repetitions are also uttered with an accelerating speed.


Abnormal oral physiology

description: A functional anomaly of the mouth (which is also known as the oral cavity).


Abnormal oral morphology

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


name: Decreased circulating parathyroid hormone level

description: An abnormally decreased concentration of parathyroid hormone.


Abnormal waist to hip ratio

description: A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement.


Increased waist to hip ratio

description: Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.


Decreased waist to hip ratio

description: Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.


name: Abnormal hypoxanthine-guanine phosphoribosyltransferase level

description: Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.


name: Elevated hypoxanthine-guanine phosphoribosyltransferase level

description: Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.


name: Reduced hypoxanthine-guanine phosphoribosyltransferase level

description: Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.


Hepatic mastocytosis

description: Liver mast cell infiltration.


Freezing of gait

description: Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk.


Absent abdominal reflex

description: Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus.


Abnormal superficial reflex

description: An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons.


Absent cremaster reflex

description: Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex.


Decreased serum zinc

description: A reduced concentration of zinc in the blood.


Hypermetric downward saccades

description: Overshoot of downward saccadic eye movements.


Hypometric upward saccades

description: Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.


Aortopulmonary collateral arteries

description: Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus.


Abnormal superoxide dismutase level

description: An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.


Increased superoxide dismutase level

description: Increased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.


Decreased superoxide dismutase level

description: Decreased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.


Presence of xenobiotic

description: Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids.


Urine xenobiotic

description: The presence of a xenobiotic in urine.


Positive urine methadone test

description: Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine.


Bradyphrenia

description: Abnormal slowness of thought processes.


Euphoria

description: Euphoria is a feeling of intense joy, happiness, excitement, or elation that surpasses what would typically be anticipated in a given situation.


Abnormal libido

description: Any deviation from the normal sexual drive or desire for sexual activity.


Femur fracture

description: A break or crush injury of the thigh bone (femur).


Difficulty walking backward

description: Reduced ability to walk (ambulate) in a backwards direction.


Cock-walk gait

description: An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor.


Sleep-wake inversion

description: A reversal of sleeping habits, with a tendency to sleep during the day and be awake at night.


Abnormal hematocrit

description: Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood.


Reduced hematocrit

description: A reduction below the normal ratio of the volume of red blood cells to the total volume of blood.


Isomerism

description: Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other.


Left Isomerism

description: A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures.


Hobby horse gait

description: An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward.


Ineffective esophageal peristalsis

description: Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus.


Esophageal furrows

description: Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus).


Abnormal heart rate variability

description: Any abnormality in the variability of the time interval between successive heartbeats.


Decreased heart rate variability

description: Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.


Increased heart rate variability

description: Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.


Bloodstream infectious agent

description: The presence of an infectious agent in the blood circulation.


Abnormal liver physiology

description: Any functional anomaly of the liver.


Clasp-knife sign

description: Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife.


Neck hypertonia

description: Increased passive stiffness or tightness of the neck musculature.


Optic ataxia

description: Difficulty reaching visually guided goals in peripheral vision, with the deficit, leaves voluntary eye movements largely unaffected.


Recurrent joint dislocation

description: Dislocation of a given joint repeated times.


Abnormal Langerhans cell morphology

description: Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis.


name: Absent Birbeck granules in Langerhans cells

description: Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy.


Early chronotype

description: A tendency towards rising very early in the morning and going to bed early in the evening.


Late chronotype

description: A tendency towards waking up very late in the morning and staying up late at night.


name: Abnormal circulating hepcidin concentration

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


name: Decreased circulating hepcidin concentration

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


name: Elevated circulating hepcidin concentration

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


Acromicria

description: Small hands and feet in proportion to the rest of the body.


Abnormal eyelid physiology

description: Any functional abnormality of the eyelid.


Eyelid laxity

description: Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test.


Decreased tear drainage

description: A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct.


Agyria

description: A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm.


Increased proinsulin:insulin ratio

description: An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation.


Abnormal CSF glucose concentration

description: A deviation from normal concentration of glucose content in the cerebrospinal fluid.


Hyperglycorrhachia

description: Abnormally high glucose concentration in the cerebrospinal fluid.


Abnormal LDL cholesterol concentration

description: Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation.


Abnormal chylomicron concentration

description: Any deviation from the normal circulating concentration of chylomicrons.


Abnormal HDL cholesterol concentration

description: Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood.


Abnormal VLDL cholesterol concentration

description: Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood.


Increased urine urobilinogen

description: An elevated concentration of urobilinogen in the urine.


Decreased eosinophil count

description: Abnormal reduction in the count of eosinophils in the blood per volume.


Rouleaux formation

description: Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells.


Abnormal coagulation factor V activity

description: Any deviation from the activity of coagulation factor V.


Elevated total serum tryptase

description: An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation.


name: Abnormal circulating selenium concentration

description: Any deviation from the normal circulating concentration of selenium.


name: Abnormal total hemolytic complement activity

description: Any deviation from the normal total hemolytic complement activity in the circulation.


name: Increased total hemolytic complement activity

description: An abnormally elevated total hemolytic complement activity in the circulation.


name: Anti-mitochondrial M2 antibody positivity

description: The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum.


Micrographia

description: Abnormally small-sized handwriting is formally defined as an impairment of fine motor skills, which mainly manifests as a progressive or stable reduction in amplitude during a writing task.


Unicornuate uterus

description: A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn.


Abnormal cranial nerve physiology

description: A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.


Trigeminal anesthesia

description: Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth.


Digital ulcer

description: An open sore on the surface of the skin of a finger or toe.


name: Juvenile type ovarian granulosa cell tumor

description: Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type.


Gastrocnemius myalgia

description: Pain of the gastrocnemius muscle.


Renal artery duplication

description: The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body.


Hematocolpos

description: Accumulation of blood in the vagina usually due to vaginal obstruction.


Rope sign

description: The presence of linear erythematous palpable cords, often on the lateral trunk.


Rosette

description: A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub.


Homer Wright rosette

description: A type of rosette in which the central lumen or hub is filled with fiber-like processes.


Flexner-Wintersteiner rosette

description: The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil.


True ependymal rosette

description: A type of rosette in which a halo of cells surrounds an empty lumen.


Perivascular pseudorosette

description: A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel.


Neurocytic rosette

description: A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular.


Ocular flutter

description: Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behavior and its occurrence may be favored by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation.


Aorto-left ventricular tunnel

description: Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left or right ventricular cavity.


Aorto-right ventricular tunnel

description: The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle.


Abnormal descending aorta morphology

description: A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen.


Ascending aorta hypoplasia

description: Significant luminal narrowing of a long segment of or the entire ascending aorta.


Delayed ability to walk

description: A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.


Tachylalia

description: Fast speech.


Abnormal conus terminalis morphology

description: Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae).


name: Conus terminalis arteriovenous malformation


name: Abnormal portal venous system morphology

description: Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins.


Congenital absence of portal vein

description: Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts.


Akathisia

description: A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria.


Pleural thickening

description: An increase in the thickness of the pleura, generally related to scarring of the pleural tissue.


name: Elevated circulating N,N-dimethylglycine concentration

description: An increased concentration of N,N-dimethylglycine in the circulation.


name: Elevated urinary N,N-dimethylglycine level

description: An increased concentration of N,N-dimethylglycine in the urine.


Tongue tremor

description: An unintentional, oscillating to-and-fro muscle movement affecting the tongue.


Snowball lesion of corpus callosum

description: Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome.


name: Recurrent bacterial upper respiratory tract infections

description: An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).


Nocturnal seizures

description: Seizures that occur while the affected individual is sleeping.


Neurogenic claudication

description: Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine.


Cautious gait

description: Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen.


Dystonic gait

description: Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients.


Antalgic gait

description: To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position.


name: Elevated circulating aspartate aminotransferase concentration

description: The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.


Spastic hemiparetic gait

description: Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster.


Spastic paraparetic gait

description: A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait.


Leg dystonia

description: A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs.


Arm dystonia

description: A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms.


Abnormal serum anion gap

description: Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration.


Elevated serum anion gap

description: An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).


Decreased serum anion gap

description: An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).


name: Elevated circulating alanine aminotransferase concentration

description: An abnormally high concentration in the circulation of alanine aminotransferase (ALT).


Increased RBC distribution width

description: Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage.


Cloudy urine

description: The appearance of the urine having visible material in suspension, i.e., appearing cloudy.


Reduced blood urea nitrogen

description: An abnormally low concentration of urea nitrogen in the blood.


name: Abnormal blood urea nitrogen concentration

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


Subaortic ventricular septal bulge

description: A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy.


Presyncope

description: Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause.


Increased vertical cup-to-disc ratio

description: An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disk.


name: Increased vertical cup-to-disc ratio - 0.6

description: Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.6 (The normal cup-to-disc ratio is 0.3).


name: Increased vertical cup-to-disc ratio - 0.7

description: Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.7 (The normal cup-to-disc ratio is 0.3).


name: Increased vertical cup-to-disc ratio - 0.8

description: Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.8 (The normal cup-to-disc ratio is 0.3).


name: Increased vertical cup-to-disc ratio - 0.9

description: Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.9 (The normal cup-to-disc ratio is 0.3).


name: Increased vertical cup-to-disc ratio - 1.0

description: Ratio of the height of the cup of the optic nerve head to the height of the disk is 1.0 (The normal cup-to-disc ratio is 0.3).


Abnormal urine carbohydrate level

description: Any deviation from the normal concentration of a carbohydrate in the urine.


Abnormal urine carboxylic acid level

description: Any deviation from the normal concentration of a carboxylic acid in the urine.


Elevated urine glycolate

description: An increased concentration of glycolate in the urine.


Abnormal putamen morphology

description: Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum.


name: Abnormal pulmonary thoracic imaging finding

description: This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.


Esophageal food impaction

description: A piece of food that has gotten stuck in the esophagus and prevents further swallowing.


Esophageal exudate

description: An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa.


Polyminimyoclonus

description: Minipolymyoclonus or polyminimyoclonus is a hyperkinetic movement disorder phenomenology characterized by intermittent, low-amplitude, arrhythmic movements of the hands, commonly of several fingers, with amplitudes just sufficient to produce visible and palpable movements of the joints. It is mostly noticed while the individual is maintaining a posture (commonly outstretched hands) or during action (especially the initial phase of movement).


Diminished ability to concentrate

description: Being unable to focus one's attention or mental effort on a particular object or activity.


Perioral spasm

description: A sudden involuntary contraction of the musculature surrounding the mouth.


Chvostek sign

description: A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve.


name: Increased urinary excretion of galactosyl hydroxylysine

description: An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption.


Apical hypertrophic cardiomyopathy

description: Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity.


Hoffmann sign

description: A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.


Bronchial breath sound

description: Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy.


Squawks

description: Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles.


Inspiratory crackles

description: Crackles that are heard during the inspiratory phase.


Early inspiratory crackles

description: Crackles that appear at the beginning of inspiration and end before mid-inspiration.


Late inspiratory crackles

description: Crackles that appear any time after the beginning of inspiration and last till the end of inspiration.


Expiratory crackles

description: Crackles that occur during expiration.


Pleural rub

description: An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles


Pink urine

description: An abnormal pink color of urine.


Orange urine

description: An abnormal orange color of urine.


Green urine

description: An abnormal green color of urine.


Pruritus vulvae

description: A sensation of itching in the vulvar region.


Lip tremor

description: An unintentional, oscillating to-and-fro muscle movement affecting the lip.


Maceration

description: A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue.


Pulmonary fat embolism

description: The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung.


Infantile constant exotropia

description: Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities.


Basic constant exotropia

description: Constant exotropia for near and distance, presenting after 6 months of age.


Heterophoria

description: Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs.


Heterotropia

description: Manifest deviation of the visual axes not controlled by fusion.


Hypermetric horizontal saccades

description: Overshoot of horizontal (sideways) saccadic eye movements.


Dysmetric vertical saccades

description: Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction.


Dysmetric horizontal saccades

description: Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction.


Abnormal sputum

description: Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin.


Sputum eosinophilia

description: An increased proportion of eosinophils in sputum in the differentiated cell count.


Muscle eosinophilia

description: Eosinophil infiltration of skeletal muscle.


Eosinophilic liver infiltration

description: Cellular infiltration of the liver parenchyma with a preponderance of eosinophils.


Eosinophilic dermal infiltration

description: Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils.


Eosinophilic gallbladder infiltration

description: Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination.


Ileal ulcer

description: An erosion of the mucous membrane in a portion of the ileum.


name: Reduced circulating alpha-1-antitrypsin concentration

description: A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesized and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.


Anetoderma

description: Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis.


Retinal dots

description: Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.


Macular dots

description: Yellow, white or grayish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size.


Floppy eyelid

description: Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis.


Lateral canthal tendon laxity

description: Laxity of the tendon stabilizing the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed.


Medial canthal tendon laxity

description: Laxity of the tendon stabilizing the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally.


Horizontal eyelid laxity

description: Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present.


Vertical eyelid laxity

description: Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilizing structures (e.g. lower lid retractors) or tarsal atrophy are often present.


Upper eyelid laxity

description: Abnormally lax upper eyelid associated with tissue relaxation.


Lower eyelid laxity

description: Abnormally lax lower eyelid associated with tissue relaxation.


Reduced contrast sensitivity

description: An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target.


Mildly reduced visual acuity

description: Mild reduction of the ability to see. On the 6m visual acuity scale, mild reduction is defined as less than 6/12 but at least 6/18. On the 20ft visual acuity scale, mild reduction is defined as less than 20/40 but at least 20/70. On the decimal visual acuity scale, mild reduction is defined as less than 0.5 but at least 0.3.


Abnormality of the ocular adnexa

description: An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.


Abnormal ocular adnexa physiology

description: A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.


Odynophagia

description: Pain experienced with swallowing.


Decreased vigilance

description: A decrease in the ability to maintain sustained attention is characterized by reduced alertness.


Hypoplastic carotid canal

description: Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.


Focal cortical dysplasia

description: A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.


Focal cortical dysplasia type I

description: A type of focal cortical dysplasia that is characterized by abnormal cortical layering.


Focal cortical dysplasia type Ia

description: A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination.


Focal cortical dysplasia type Ib

description: A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination.


Focal cortical dysplasia type Ic

description: A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination.


Focal cortical dysplasia type IIa

description: A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins.


Focal cortical dysplasia type IIb

description: A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells.


Focal cortical dysplasia type III

description: A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe.


Focal cortical dysplasia type IIIa

description: A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organization (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis).


Focal cortical dysplasia type IIIb

description: A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor.


Focal cortical dysplasia type IIIc

description: A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis).


Focal cortical dysplasia type IIId

description: A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections.


name: Mild malformation of cortical development

description: A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter.


Hypereosinophilia

description: A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter.


Ankle joint effusion

description: Abnormal accumulation of fluid in or around the ankle joint.


name: Abnormal serum bicarbonate concentration

description: Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation.


name: Decreased serum bicarbonate concentration

description: An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation.


name: Elevated serum bicarbonate concentration

description: An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation.


Increased urinary mucus

description: An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis.


Anti-thyroglobulin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.


Leptomeningeal enhancement

description: Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis.


Aplasia of the fallopian tube

description: Aplasia, that is failure to develop, of the fallopian tube.


Splenopancreatic fusion

description: Fusion of the pancreatic tail and spleen.


name: Abnormal male urethral meatus morphology


Male urethral meatus stenosis

description: An abnormal narrowing of the urethral opening (meatus) of the penis.


Angel-shaped phalanx

description: A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head).


Medial degeneration

description: Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections.


name: Intralamellar mucoid extracellular matrix accumulation

description: A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units.


name: Translamellar mucoid extracellular matrix accumulation

description: A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees.


Aortic elastic fiber fragmentation

description: Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers.


Aortic elastic fiber thinning

description: A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers.


Aortic elastic fiber disorganization

description: Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers.


Aortic smooth muscle cell nuclei loss

description: A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain.


Aortic laminar medial collapse

description: Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers.


name: Aortic smooth muscle cell disorganization

description: Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells.


Aortic medial fibrosis

description: An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units).


Intralamellar aortic medial fibrosis

description: A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units.


Translamellar aortic medial fibrosis

description: A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units.


name: Left ventricular outflow tract obstruction

description: Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.


name: Increased circulating surfactant protein level

description: An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis.


Abnormal manganese concentration

description: A deviation from the normal range of manganese in the blood circulation.


Hypermanganesemia

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


Hypomanganesemia

description: A reduction below the normal concentration of manganese in the blood.


Perioral radial furrowing

description: The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976).


Abnormal doll's eye reflex

description: The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage.


Unusual infection

description: A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections.


Wilson sign

description: Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia.


Saccadic oscillation

description: An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade.


Macrosaccadic oscillations

description: A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern.


Conjunctival icterus

description: Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease.


Mildly reduced contrast sensitivity

description: A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss.


Moderately reduced contrast sensitivity

description: A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss.


Severely reduced contrast sensitivity

description: A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss.


name: Abnormal Vistech contrast sensitivity test

description: An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test.


name: Abnormal Pelli Robson contrast sensitivity chart test

description: An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast.


Saccadic intrusion

description: An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade.


Macrosquare-wave jerks

description: Horizontal 10-40 degree excursions from fixation and back again.


name: Abnormal peripheral nervous system physiology

description: Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.


Froment sign

description: An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint.


Very low visual acuity

description: A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590).


Ultra-low vision

description: Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590).


name: Abnormal proportion of unswitched memory B cells

description: A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells.


name: Increased proportion of unswitched memory B cells

description: An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells.


name: Decreased proportion of unswitched memory B cells

description: A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells.


Abnormal plasmablast proportion

description: A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination.


Increased proportion of plasmablasts

description: An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells.


Decreased proportion of plasmablasts

description: A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells.


name: Mycobacterium abscessus abscessus infection

description: Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections.


Decreased circulating total IgG

description: A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.


name: Transient decreased circulating total IgG

description: A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.


Chronic decreased circulating total IgG

description: A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.


name: Decreased circulating IgG subclass level

description: A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood.


Decreased circulating IgG1 level

description: A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation.


Decreased circulating IgG3 level

description: A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation.


Decreased circulating IgG4 level

description: A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation.


Reduced isohemagglutinin level

description: Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).


name: Decreased specific antibody response to vaccination

description: A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination.


Precordial pain

description: A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck.


Fetor hepaticus

description: Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic.


Burning mouth

description: An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa.


Coffee ground vomitus

description: Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit.


Sural nerve atrophy

description: Wasting of the sural nerve, a sensory nerve in the calf region of the leg.


HbC hemoglobin

description: Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis.


Episodic pain

description: Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals.


Breakthrough pain

description: A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain.


Paroxysmal rectal pain

description: Excruciating burning pain in the rectal area that may be triggered by defecation.


Episodic eosinophilia

description: Recurrent episodes of marked eosinophilia that resolve spontaneously.


Joint subluxation

description: A partial dislocation of a joint.


Aphthous ulcer

description: Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.


Abdominal cramps

description: A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity.


Skin detachment

description: Loss of sections of skin either spontaneously or after gentle handling.


Recurrent genital herpes

description: Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks.


Unusual infection by anatomical site

description: An unusual infection classified by the affected body part.


Coccidioidal meningitis

description: A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges.


Unusual skin infection

description: A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection.


Increased blood folate concentration

description: An elevated circulating concentration of folic acid, which is also known as vitamin B9.


Placental mesenchymal dysplasia

description: Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells.


Clostridium difficile enteritis

description: An infection of the small intestine (enteritis) by clostridium difficile.


Severe infection

description: A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.


Severe varicella zoster infection

description: An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.


Bladder pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case.


Air crescent sign

description: A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan.