This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan. [PMID:2503273]


Tessier facial cleft number 7
Tessier number 7 facial cleft

The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate. [PMID:2503273]


The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae. [PMID:2503273]


A loss of PREGNANCY from natural causes before the 20th week of pregnancy. (2017/18 ICD-10-CM)


A reduction in voltage of the PR segment below baseline. []


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. [PMID:21731561]


Eyelid twitch
Lid twitch
Cogan eyelid twitch

Transient eyelid retraction during refixation from down to straight ahead. [ORCID:0000-0003-0986-4123]


Food allergy
Immunoglobulin E-mediated food allergy

Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods. [PMID:27069254, PMID:27069841]


The lemon sign refers to the shape of the fetal skull at ultrasonography (US) when the frontal bones lose their normal convex contour and appear flattened or inwardly scalloped. This gives the skull a shape that is said to resemble a lemon.. The sign is seen on transverse sonograms of the fetal cranium obtained at the level of the ventricles. [ORCID:0000-0001-8612-1062, PMID:12832584, PMID:29089832]


Less than 10 fetal movements in 12 hours


Low number of red blood cells or hemoglobin


Coughing up blood or blood-stained mucus


In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion. [PMID:7648691]


An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation. [PMID:11531958]


A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg. [HPO:mtaboada, PMID:25573808]


A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards. [ORCID:0000-0003-0986-4123]


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


Anti-granulocyte-macrophage colony stimulating factor antibody positivity

The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor. [PMID:23509356]


Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens. [ORCID:0000-0003-0986-4123]


Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. [PMID:16196117]


Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. [PMID:16196117]


Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. [PMID:16196117]


Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. [PMID:16196117]


Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. []


Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. [PMID:16196117]


Abnormal morphology of the choroidal vasculature


Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA). [PMID:25709392]


A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree. [PMID:27190856]


Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart. [MP:0006064]


Any structural anomaly of the principal vein draining blood from the lower portion of the body. [MP:0006063]


Any structural abnormality of the left atrium. []


Any structural abnormality of the right atrium. []


Bleeding occurring within the fovea. [ORCID:0000-0003-0986-4123]


Sub-macular hemorrhage
Submacular haemorrhage
Sub-macular haemorrhage

Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation. [ORCID:0000-0003-0986-4123, PMID:23202390]


Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals. []


Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes. [ORCID:0000-0003-0986-4123, PMID:15731772]


A functional anomaly of the muscles of the eye. []


Abnormal superior oblique muscle physiology

A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve. [ORCID:0000-0003-0986-4123]


Decreased strength of the superior oblique muscle. []


Mechanical limitation of the range of movement of the superior oblique muscle. [ORCID:0000-0003-0986-4123]


Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy. [ORCID:0000-0003-0986-4123]


Abnormal inferior oblique muscle physiology

A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve. [ORCID:0000-0003-0986-4123]


Mechanical limitation of the range of movement of the inferior oblique muscle. [ORCID:0000-0003-0986-4123]


Decreased strength of the inferior oblique muscle. [ORCID:0000-0003-0986-4123]


Abnormal inferior rectus muscle physiology

A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye. [ORCID:0000-0003-0986-4123]


Decreased strength of the inferior rectus muscle. [ORCID:0000-0003-0986-4123]


Abnormal superior rectus muscle physiology

A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe. [ORCID:0000-0003-0986-4123]


A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit. []


Abnormal medial rectus muscle physiology

A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball. [ORCID:0000-0003-0986-4123]


A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles. [ORCID:0000-0003-0986-4123]


A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye). [ORCID:0000-0003-0986-4123]


A type of facial cleft located near to but not directly on the midline of the face. []


As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly. [PMID:2503273]


As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening. [PMID:2503273]


As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced. [PMID:2503273]


The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly. [PMID:2503273]


This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa. [PMID:2503273]


In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric. [PMID:2503273]


An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal. [PMID:2503273]


There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate. [PMID:2503273]


There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above. [PMID:2503273]


A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis. [PMID:22529554]


A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events. []


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. [PMID:12484622]


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. [PMID:23677846]


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. []


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. []


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. []


An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary nbeating. []


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. []


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. [PMID:21339912]


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


Sub-inner limiting membrane haemorrhage
Sub-ILM haemorrhage
Sub-ILM hemorrhage

A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer. [PMID:17229799]


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


A notch or cleft of the lower part of the retina. []


Faint anterior chamber flare. [PMID:16196117]


Moderate anterior chamber flare (iris and lens details clear). [PMID:16196117]


Marked anterior chamber flare (iris and lens details hazy). [PMID:16196117]


Intense anterior chamber flare (fibrin/plastic aqueous). [PMID:16196117]


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. []


Pathological deposition of calcium salts in the globus pallidus. []


Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it. [ORCID:0000-0001-5835-5515, PMID:25187745]


Any structural anomaly located between the pleura and the chest wall. []


So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space. [PMID:23220902]


Anomalous origin of the right subclavian artery from the descending aorta

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. []


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

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. [PMID:27974985]


Absence of the normal opening of the coronary ostium from which the right main coronary artery originates. []


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

The left anterior descending artery (LAD) branches off from the pulmonary artery. [PMID:27358682]


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. []


Any structural anomaly of the radial artery. []


Fusiform ascending tubular aorta aneurysm

An eccentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves only a portion of the circumference of the vessel wall. []


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


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


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


Abnormal atrioventricular valve physiology

Any functional defect of the mitral or tricuspid valve. []


Any functional defect of the tricuspid valve. []


Any functional abnormality of a cardiac valve. []


Any functional anomaly of the pumonary valve. []


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. []


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. [PMID:28835836]


Orthodromic atrioventricular reentrant tachycardia

A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction. [PMID:29234357]


Antidromic atrioventricular reentrant tachycardia

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


A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG). [PMID:29184614]


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. [PMID:8172861]


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 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. [PMID:8172861]


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. [PMID:8172861]


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 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. [PMID:7648691]


Increased stool alpha1-antitrypsin concentration

An abnormally elevated amount of alpha1-antitrypsin in the feces. []


Accentuation of the pulmonic component of the second heart sound

Abnormally loud pulmonic component of the second heart sound


An unusually severe infection by cytomegalovirus. [PMID:12588074]


Fulminant infectious mononucleosis
Severe EBV infection

An unusually severe Epstein Barr virus (EBV) infection. []


An unusually severe adenovirus infection. [PMID:24678403]


An unusually severe infection by a parainfluenza virus. []


A viral infection that fails to be contained by the immune sytem and spreads throughout the body. [PMID:28476145]


Disseminated infection with live vaccine virus

A dissemination viral infection caused by a live attenuated vaccine virus. [PMID:25452596]


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


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


The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye. []


The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye. []


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


A tendency to turn the face to the right to compensate for a limitation of eye movement. []


A tendency to turn the face to the left to compensate for a limitation of eye movement. []


Compensatory head tilt to the right shoulder

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


Compensatory head tilt to the left shoulder

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


An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric). [PMID:12751282]


A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times. [ORCID:0000-0003-0986-4123]


A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle. [ORCID:0000-0003-0986-4123]


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. [ORCID:0000-0003-0986-4123]


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. []


A form of hypermetropia with not more than +2.00 diopters. [ORCID:0000-0003-0986-4123]


A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters. [ORCID:0000-0003-0986-4123]


Increased lacrimation owing to overproduction of tears. [ORCID:0000-0003-0986-4123]


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. [ORCID:0000-0003-0986-4123]


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). [ORCID:0000-0003-0986-4123]


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. [ORCID:0000-0003-0986-4123]


A functional anomaly of the inferior or superior oblique muscle. [ORCID:0000-0003-0986-4123]


Abnormal horizontal rectus muscle physiology

A functional anomaly of the medial rectus muscle or lateral rectus muscle. []


Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy. [ORCID:0000-0003-0986-4123]


Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. [ORCID:0000-0003-0986-4123]


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. [ORCID:0000-0003-0986-4123]


Decreased strength of the superior rectus muscle. []


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. [ORCID:0000-0003-0986-4123]


Mechanical limitation of the range of movement of the superior rectus muscle. [ORCID:0000-0003-0986-4123]


Abnormal vertical rectus muscle physiology

A functional anomaly of the superior or inferior rectus muscle. [ORCID:0000-0003-0986-4123]


Abnormal lateral rectus muscle physiology

A functional anomaly of the lateral rectus muscle. []


Decreased strength (ability to move) of the lateral rectus muscle. [ORCID:0000-0003-0986-4123]


Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. [ORCID:0000-0003-0986-4123]


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. []


Decreased strength of the medial rectus muscle. [ORCID:0000-0003-0986-4123]


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. []


A functional anomaly of a vertical or horizontal rectus muscle. [ORCID:0000-0003-0986-4123]


Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. [ORCID:0000-0003-0986-4123]


Mechanical limitation of the range of movement of the lateral rectus muscle. []


A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times). [ORCID:0000-0003-0986-4123]


A form of esotropia in which the angle of deviation is not affected by accommodative effort. [ORCID:0000-0003-0986-4123]


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. [UManchester:psergouniotis]


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. [ORCID:0000-0003-0986-4123]


Constant esotropia with an accommodative element

Constant esotropia with an accommodative component

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. [ORCID:0000-0003-0986-4123]


Fixation of an object in the area adjacent to the fovea. [ORCID:0000-0003-0986-4123]


Fixation of an object in a peripheral area of the retina. [ORCID:0000-0003-0986-4123]


Abnormal posterior circulating artery morphology

Any structural anomaly of the posterior circulating artery (PCOM). []


Posterior communicating artery infundibulum

A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery. [PMID:9848859]


A type of ascites in which there are large numbers of eosinophils in the ascitis fluid. [PMID:27721930]


A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC. [ORCID:0000-0003-0986-4123, PMID:9602615]


A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test. [ORCID:0000-0003-0986-4123, PMID:9602615]


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. [MP:0009867]


An abnormality in voluntary or involuntary eyelid movements or their control. []


An increased concentration of leptin in the blood. [RGD:sjwang]


A decrease below the normal concentration of glycerol in the blood. []


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


Elevated ApoB level
Elevated apolipoprotein B level

Elevated circulating apolipoprotein B concentration

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. [ORCID:0000-0001-5356-4174]


Decreased apolipoprotein AI level
Decreased apo-AI level
Decreased apoA-I level

Decreased circulating apolipoprotein AI concentration

Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease. [ORCID:0000-0001-5356-4174]


Elevated apoA-II level
Elevated APOAII level
Elevated apolipoprotein A-II level
Elevated Apo-AII level

Elevated circulating apolipoprotein A-II concentration

An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism. [ORCID:0000-0001-5356-4174]


Knuckle dimple
Archibald's metacarpal sign

Shortening of the fourth and fifth metacarpals when the fist is clenched. [Gene42:pbuczkowicz, PMID:22075011, PMID:22629539]


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


Any structural anomaly of the mouth, which is also known as the oral cavity. []


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


Increased waist-to-hip ratio
Increased WHR
Increased waist-hip ratio

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. [ORCID:0000-0001-5356-4174, PMID:12872269]


Decreased WHR
Decreased waist-hip ratio
Decreased waist-to-hip ratio

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. [PMID:12872269, RGD:gthayman]


Abnormal 6-hydroxypurine phosphoribosyltransferase level

Abnormal hypoxanthine-guanine phosphoribosyltransferase level

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. [RGD:sjwang]


Elevated 6-mercaptopurine phosphoribosyltransferase level

Elevated 6-hydroxypurine phosphoribosyltransferase level

Elevated hypoxanthine-guanine phosphoribosyltransferase level

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. [RGD:sjwang]


Reduced 6-hydroxypurine phosphoribosyltransferase level

Reduced 6-mercaptopurine phosphoribosyltransferase level

Reduced hypoxanthine-guanine phosphoribosyltransferase level

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. [RGD:sjwang]


Liver mast cell infiltration. [HPO:probinson, PMID:25009756]


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. []


A reduced concentration of zinc in the blood. [PMID:16518702, RGD:gthayman]


Overshoot of downward saccadic eye movements. []


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. []


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. [MP:0010635, PMID:26467877]


Abnormal superoxide:superoxide oxidoreductase activity

An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide. [PMID:25276767, RGD:gthayman]


Increased superoxide:superoxide oxidoreductase activity

Increased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide. [RGD:gthayman]


Decreased superoxide:superoxide oxidoreductase activity

Decreased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide. [PMID:25276767, RGD:gthayman]


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. []


The presence of a xenobiotic in urine. []


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


Any deviation from the normal sexual drive or desire for sexual activity. []


Reduced ability to walk (ambulate) in a backwards direction. [HPO:probinson]


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. [PMID:24746291]


A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night. []


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. [PMID:21731561]


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. [PMID:21956287]


Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus. [PMID:28665309]


Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus). [PMID:25368745]


Any abnormality in the variability of the time interval between successive heartbeats. [PMID:8598068]


Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle. [ORCID:0000-0001-5356-4174, PMID:8598068]


Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle. [ORCID:0000-0001-5356-4174, PMID:8598068]


Any functional anomaly of the liver. [HPO:probinson]


Increased passive stiffness or tightness of the neck musculature. []


Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected. [ORCID:0000-0002-6601-2165, PMID:24607223]


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. [PMID:29449841]


Absent Birbeck granules in Langerhans cells

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. [HPO:probinson, PMID:15816828]


A tendency towards rising very early in the morning and going to bed early in the evening. []


A tendency towards rising very late in the morning and going to bed late at night. []


Any deviation from the normal concentration of hepcidin in the blood circulation. [HPO:probinson, PMID:16450011]


An abnormally reduced concentration of hepcidin in the blood circulation. [HPO:probinson, PMID:16450011]


An abnormally increased concentration of hepcidin in the blood circulation. [HPO:probinson, PMID:16450011]


Any functional abnormality of the eyelid. []


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. [UManchester:psergouniotis]


An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation. [RGD:gthayman]


A deviation from normal concentration of glucose content in the cerebrospinal fluid. []


Abnormal LDL-C concentration
Abnormal LDLc concentration
Abnormal LDL-C level

Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation. [HPO:probinson]


Any deviation from the normal circulating concentration of chylomicrons. []


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


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


Any deviation from the activity of coagulation factor V. []


Abnormal circulating selenium concentration

Any deviation from the normal circulating concentration of selenium. [HPO:probinson, PMID:26045617, PMID:29494512]


Abnormal total hemolytic complement activity

Any deviation from the normal total hemolytic complement activity in the circulation. []


Increased total hemolytic complement activity

An abnormally elevated total hemolytic complement activity in the circulation. [HPO:probinson]


Decreased total hemolytic complement activity

An abnormally reduced total hemolytic complement activity in the circulation. [HPO:probinson]


Anti-mitochondrial M2 antibody positivity

The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum. [LMU:mgriese, PMID:30579751]


Focal hyperintensity of cerebral white matter on MRI

An abnormal area of increased brightness (hyperintensity) that is limited to one particular area. []


Multifocal hyperintensity of cerebral white matter on MRI

An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas. []


Confluent hyperintensity of cerebral white matter on MRI

Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together. [PMID:25636970]


Focal hypointensity of cerebral white matter on MRI


Multifocal hypointensity of cerebral white matter on MRI


Confluent hypointensity of cerebral white matter on MRI


Decreased level of 1,5-anhydroglucitol in serum

Decreased level of 1,5-anhydro-D-glucitol in serum

Decreased level of 1,5 anhydroglucitol in serum

A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues. [PMID:16731998, PMID:17659063, PMID:9357814]


Increased level of 3-hydroxy-3-methylglutaric acid in urine

An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine. [PMID:15505778, PMID:23705938]


An increase in the level of allantoin in the serum. [PMID:18636793]


Increased level of gamma-aminobutyric acid in serum

Increased circulating GABA concentration

Elevated circulating gamma-aminobutyric acid concentration

An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation. [PMID:1485027, PMID:25485164]


Decreased level of gamma-aminobutyric acid in serum

Decreased circulating GABA concentration

A decrease in the level of GABA in the serum. [PMID:1485027]


A decrease in the level of erythritol in the urine. [PMID:14988808]


Decreased level of erythritol in cerebrospinal fluid

A decrease in the level of erythritol in the cerebrospinal fluid. [PMID:14988808]


An increase in the level of D-threitol in the plasma. [PMID:14988808]


Increased level of D-threitol in cerebrospinal fluid

An increase in the level of D-threitol in the cerebrospinal fluid. [PMID:14988808]


An increase in the level of D-threitol in the urine. [PMID:14988808]


A decrease in the level of D-mannose in the urine. [PMID:2576290, PMID:29099052]


An increase in the level of galactitol in the plasma. [PMID:11092512, PMID:7671965]


An increase in the level of galactitol in the urine. [PMID:11092512, PMID:7671965]


Increased level of galactonate in erythrocytes

Increased level of galactonate in red blood cells

An increase in the level of galactonate in the red blood cells. [PMID:14680973]


Increased level of galactitol in erythrocytes

Increased level of galactitol in red blood cells

An increase in the level of galactitol in the red blood cells. [PMID:14680973]


Increased level of N-benzoylglycine in blood

Increased level of hippuric acid in blood

An increase in the level of hippuric acid in the blood. [PMID:22626821]


Increased level of N-benzoylglycine in urine

Increased level of hippuric acid in urine

An increase in the level of hippuric acid in the urine. [PMID:19551947, PMID:22626821]


An increase in the level of L-fucose in the urine. [PMID:2311216]


Increased level of L-glutamic acid in blood

An increase in the level of L-glutamic acid in the blood. [PMID:7623444]


Increased level of propane-1,2-diol in blood

Increased level of propylene glycol in blood

An increase in the level of propylene glycol in the blood. [PMID:3426740]


An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose. [PMID:14988808, PMID:26054712]


Increased level of ribitol in cerebrospinal fluid

An increase in the level of ribitol in the cerebral spinal fluid. [PMID:14988808]


An increase in the level of ribose in the urine. [PMID:14988808]


Increased level of ribose in cerebrospinal fluid

An increase in the level of ribose in the cerebrospinal fluid. [PMID:14988808]


An increase in the level of xylitol in the urine. [PMID:14988808]


Increased level of xylitol in cerebrospinal fluid

An increase in the level of xylitol in the cerebrospinal fluid. [PMID:14988808]


Increased level of 5-oxo-L-proline in urine

Increased level of L-pyroglutamic acid in urine

An increase in the level of L-pyroglutamic acid in the urine. [PMID:10094443, PMID:4557757]


An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. [PMID:29359854]


A decrease in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. [PMID:29359854]


An increase in biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. [PMID:29359854]


Eosinophilic infiltration of the esophagus

Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus. [PMID:27158535]

Eosinophilic infiltration of the oesophagus


Eosinophilic micro-abscess formation in the oesophagus

Eosinophilic microabscess formation in the oesophagus

Eosinophilic micro-abscess formation in the esophagus

Eosinophilic microabscess formation in the esophagus

The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques. [PMID:27158535]


Increased level of pyrotartaric acid in urine

Increased level of methylsuccinic acid in urine

An increase in the level of methylsuccinic acid in the urine. [PMID:16828325, PMID:19343532, PMID:3571488, PMID:6616873]


Increased level of tetradecanoic acid in serum

Increased level of myristic acid in serum

An increase in the level of myristic acid in the serum. [PMID:22024767]


Increased level of NANA in urine
Increased level of Neu5Ac in urine

Increased level of N-acetylneuraminic acid in urine

An increase in the level of N-acetylneuraminic acid in the urine. [PMID:7398077]


Increased level of Neu5Ac in fibroblasts

Increased level of sialic acid in fibroblasts

Increased level of N-acetylneuraminic acid in fibroblasts

An increase in the level of N-acetylneuraminic acid in cultured fibroblasts. [PMID:11992753]


Increased level of O-phosphoethanolamine in urine

Increased urine O-phosphoethanolamine level

An increase in the level of O-phosphoethanolamine in the urine. [PMID:23093139]


A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication. [GO:0036297, PMID:16464006, PMID:22064477]


Abnormal morphology of the chest musculature

Any abnormality of the chest muscles. []


Muscle issues in the shoulder
Abnormality of the shoulder musculature

Abnormal morphology of the shoulder musculature

Any abnormality of the shoulder muscles. []


Increased concentration of cotinine in urine. []


The presence of a xenobiotic in blood. []


Increased circulating troponin I concentration

An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. []


Increased circulating troponin T concentration

An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. [PMID:15452153]


Abnormal glucose-6-phosphate dehydrogenase level

An anomaly in the level of glucose-6-phosphate dehydrogenase. []


Abnormal glucose-6-phosphate dehydrogenase level in blood

An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood. [PMID:24787449]


Increased glucose-6-phosphate dehydrogenase level in blood

An increase in the level of glucose-6-phosphate dehydrogenase in the blood. []


Decreased glucose-6-phosphate dehydrogenase level in blood

A decrease in the level of glucose-6-phosphate dehydrogenase in the blood. [PMID:24787449]


Abnormal glucose-6-phosphate dehydrogenase level in DBS

Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot

An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. [PMID:28479150]


Increased G6PD level in dried blood spot

Increased glucose-6-phosphate dehydrogenase level in DBS

Increased glucose-6-phosphate dehydrogenase level in dried blood spot

An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. [PMID:28479150]


Decreased G6PD level in dried blood spot

Decreased glucose-6-phosphate dehydrogenase level in DBS

Decreased glucose-6-phosphate dehydrogenase level in dried blood spot

A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. [PMID:28479150]


Abnormal glucose-6-phosphate dehydrogenase level in leukocytes

An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes. [https://doi.org/10.1016/B978-0-12-383834-6.00086-0]


Abnormal G6PD level in red blood cells
Abnormal G6PD level in RBCs

Abnormal glucose-6-phosphate dehydrogenase level in red blood cells

An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells. [PMID:18942156]


Abnormal glucose-6-phosphate dehydrogenase level in tissue

An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue. []


Increased glucose-6-phosphate dehydrogenase level in tissue

An increase in the level of glucose-6-phosphate dehydrogenase in tissue. []


Decreased glucose-6-phosphate dehydrogenase level in tissue

A decrease in the level of glucose-6-phosphate dehydrogenase in tissue. []


Decreased G6PD level in RBCs
Decreased G6PD level in red blood cells

Decreased glucose-6-phosphate dehydrogenase level in red blood cells

A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells. [PMID:18942156]


Increased G6PD level in red blood cells
Increased G6PD level in RBCs

Increased glucose-6-phosphate dehydrogenase level in red blood cells

An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells. []


Decreased glucose-6-phosphate dehydrogenase level in leukocytes

A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes. [https://doi.org/10.1016/B978-0-12-383834-6.00086-0]


Increased glucose-6-phosphate dehydrogenase level in leukocytes

An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes. []


Abnormal uridine diphosphate glucose-4-epimerase level

An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose. []


Abnormal UDP-glucose 4-epimerase activity level in plasma

Abnormal uridine diphosphate glucose-4-epimerase level in plasma

An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. []


Increased UDP-glucose 4-epimerase level in plasma

Increased uridine diphosphate glucose-4-epimerase level in plasma

An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. []


Decreased UDP-glucose 4-epimerase level in plasma

Decreased uridine diphosphate glucose-4-epimerase level in plasma

A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. []


Abnormal UDP-glucose 4-epimerase level in RBCs

Abnormal UDP-glucose 4-epimerase level in red blood cells

Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells

An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. []


Increased UDP-glucose 4-epimerase level in red blood cells

Increased UDP-glucose 4-epimerase level in RBCs

Increased uridine diphosphate glucose-4-epimerase level in red blood cells

An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. []


Decreased UDP-glucose 4-epimerase level in red blood cells

Decreased UDP-glucose 4-epimerase level in RBCs

Decreased uridine diphosphate glucose-4-epimerase level in red blood cells

A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. []


Abnormal natural killer subset distribution

Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells. []


Blockage of the nasolacrimal sac. [PMID:17203310]


A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac. [PMID:13434546]


Benign tumor of the nasolacrimal sac. [PMID:4352147]


Nasolacrimal sac epithelial papillary carcinoma

The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac. [PMID:16253035]


Cicatricial conjunctivitis
Conjunctival cicatricial conjunctivitis
Cicatrizating conjunctivitis

An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring. [ORCID:0000-0003-0986-4123]


A unilateral or bilateral eyelid retraction due to midbrain lesions. [PMID:17323781]


A type of lymphoma that involves the nasolacrimal sac. [ORCID:0000-0003-0986-4123, PMID:9392338]


Delayed canalization of nasolacrimal duct

A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period. [PMID:11222337]


A detachment that involves the peripheral retina that does not extend into the macula. [ISBN:978-3-319-52190-9]


A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well. [ISBN:978-3-319-52190-9]


An open funnel detachment of the retina with generally traction in all four quadrants. [ISBN:978-3-319-52190-9]


A closed funnel detachment of the retina with generally traction in all four quadrants. [ISBN:978-3-319-52190-9]


Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula. [ISBN:978-3-319-52190-9, PMID:16009843]


Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata. [ISBN:978-3-319-52190-9, PMID:16009843]


Retinopathy which is a residual crescent of retina anterior to zone II. [ISBN:978-3-319-52190-9, PMID:16009843]


Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye. [PMID:16009843]


As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal. [PMID:16009843]


A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease. [ISBN:978-3-319-52190-9]


High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both. [ISBN:978-3-319-52190-9]


The difference between total and manifest myopia. [ORCID:0000-0003-0986-4123]


A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus. [ORCID:0000-0003-0986-4123]


Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation. [ORCID:0000-0003-0986-4123]


Any deviation from the normal ocular alignment. [ORCID:0000-0001-7941-2961]


A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards. [ORCID:0000-0003-0986-4123]


A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards. [ORCID:0000-0003-0986-4123]


Temporal gray pigmentary crescent
Optic nerve grey crescent
Temporal grey pigmentary crescent

Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. [PMID:24862768]


Loss of pigment in the fovea centralis. [PMID:24023426]


A capillary hemangioma surrounding the eyeball but within the orbit. [PMID:20616917]


A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit. []


Presence of a xenobiotic in meconium. []


Presence of a xenobiotic in plasma and/or serum. []


Presence of a xenobiotic in gastric fluid. []


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. []


Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. [ORCID:0000-0003-0986-4123]


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. [HPO:probinson]


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


Anomalous origin of the right common carotid artery from the aorta

The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta. [PMID:12601459]


A rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.


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. []


Osteolytic defects of bones
Breakdown of bone
Osteolysis

Dissolution of bone that particularly involves the removal or loss of calcium.


Diseases of the peripheral nerves external to the brain and spinal cord, which includes diseases of the nerve roots, ganglia, plexi, autonomic nerves, sensory nerves, and motor nerves.


Interstitial pneumonia characterized by the presence of fibrosis in the interstitial lung tissue. The pathologic diagnosis is based on the identification of fibrotic lesions at different stages of development within a lung biopsy specimen. Typically there are foci of normal lung parenchyma alternating with interstitial inflammation and honeycombing. The term usual interstitial pneumonia sometimes is used interchangeably with idiopathic interstitial fibrosis. The two terms are not entirely synonymous. Usual interstitial pneumonia may be associated with other conditions such as connective tissue disorders and asbestosis. The diagnosis of idiopathic interstitial fibrosis requires the exclusion of such conditions. Patients with usual interstitial pneumonia present with progressive dyspnea, cough, and restrictive pulmonary function abnormalities. The prognosis is usually poor.


A malignant neoplasm that originates in cells on the surface EPITHELIUM of the ovary and is the most common form of ovarian cancer. There are five histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Mutations in BRCA1, OPCML, PRKN, PIK3CA, AKT1, CTNNB1, RRAS2, and CDH1 genes are associated with this cancer.


A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray. [HPO:probinson]


Basal cell epithelioma
Basal cell carcinoma
Basal cell carcinomas

A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)


End-organ unresponsiveness to thyroid hormone

Elevated serum levels of free thyroid hormone with nonsuppressed TSH

Decreased response to thyroid hormones in peripheral tissues and in the pituitary gland.


A neoplasm arising from arteries or veins.


Seizures precipitated by exogenous stimuli. [ORCID:0000-0002-1735-8178, PMID:11422340]


Foot and ankle bend up toward shin of leg


Abnormal connection between trachea and oesophagus

Abnormal connection between trachea and esophagus


A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe. [PMID:20862203]


Delayed maturation of the end part of the vertebral bone


Any functional abnormality of erythrocytes (red-blood cells). []


Abnormal Hb concentration
Abnormal haemoglobin concentration

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


Decreased haemoglobin concentration
Decreased Hb concentration

An abnormal reduction below normal hemoglobin concentration in the circulation. []


Increased haemoglobin concentration
Increased Hb concentration

An abnormal elevation above normal hemoglobin concentration in the circulation. []


Severe constriction of peripheral visual field

Peripheral visual field constriction with 10-19 degrees central field preserved. []


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


Pain of the gastrocnemius muscle. [PMID:29491286]


The presence of linear erythematous palpable cords, often on the lateral trunk. [PMID:16935918, PMID:26131871]


A type of rosette in which a halo of cells surrounds an empty lumen. [PMID:16551982]


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. [PMID:16551982]


A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular. [PMID:16551982]


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


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). []


Conus terminalis arteriovenous malformation


Abnormal portal venous system morphology

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. [PMID:11796904]


Elevated circulating N,N-dimethylglycine concentration

An increased concentration of N,N-dimethylglycine in the circulation. []


Elevated urinary N,N-dimethylglycine level

An increased concentration of N,N-dimethylglycine in the urine. []


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. [PMID:24663235, PMID:26991403]


Recurrent bacterial upper respiratory tract infections

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). [PMID:26424818]


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. [PMID:27770207]


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. [PMID:27770207]


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


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


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. [PMID:17699401]


An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration). [PMID:17699401]


An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration). [PMID:17699401]


An abnormally low concentration of urea nitrogen in the blood. []


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. [ORCID:0000-0001-5835-5515, PMID:25129067, PMID:9203495]


An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc. [UManchester:psergouniotis]


Increased vertical cup-to-disc ratio - 0.6

Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3). [UManchester:psergouniotis]


Increased vertical cup-to-disc ratio - 0.7

Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3). [UManchester:psergouniotis]


Increased vertical cup-to-disc ratio - 0.8

Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3). [UManchester:psergouniotis]


Increased vertical cup-to-disc ratio - 0.9

Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3). [UManchester:psergouniotis]


Increased vertical cup-to-disc ratio - 1.0

Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3). [UManchester:psergouniotis]


Any deviation from the normal concentration of a carbohydrate in the urine. []


An increased concentration of glycolate in the urine. [PMID:2031609]


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


Abnormal chest radiograph finding (lung)

Abnormal pulmonary thoracic imaging finding

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. []


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. [PMID:22919257]


Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant. [PMID:21339907]


A sudden involuntary contraction of the musculature surrounding the mouth. []


Increased urinary excretion of galactosyl hydroxylysine

An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption. [PMID:10222355]


A hypertrophic cardiomyopathy characterized by apical hypertrophy, typically LEFT VENTRICULAR HYPERTROPHY (described as "ace of spades" sign), and deep T-wave inversions in EKG. Clinical symptoms include minor symptoms such as CHEST PAIN; DYSPNEA; and SYNCOPE to more complex symptoms such as ATRIAL FIBRILLATION; VENTRICULAR FIBRILLATION; MYOCARDIAL INFARCTION and CONGESTIVE HEART FAILURE. A transient left ventricular apical hypertrophy is sometimes associated with TAKOTSUBO CARDIOMYOPATHY.


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. [PMID:26229557]


Crackles that appear at the beginning of inspiration and end before mid-inspiration. [PMID:26229557]


Crackles that appear any time after the beginning of inspiration and last till the end of inspiration. [PMID:26229557]


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


Constant exotropia for near and distance, presenting after 6 months of age. [UManchester:psergouniotis]


Overshoot of horizontal (sideways) saccadic eye movements. []


Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction. [UManchester:psergouniotis]


Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction. [UManchester:psergouniotis]


Eosinophilic infiltration of skeletal muscle

Eosinophil infiltration of skeletal muscle. [HPO:probinson, PMID:24424174, PMID:24803842]


Cellular infiltration of the liver parenchyma with a preponderance of eosinophils. [HPO:probinson, PMID:20457690, PMID:7835024]


Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination. [PMID:27872806]


A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised 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. [PMID:24507836]


Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. [UManchester:psergouniotis]


Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. [UManchester:psergouniotis]


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. [PMID:26139650, UManchester:psergouniotis]


Laxity of the tendon stabilising 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. [UManchester:psergouniotis]


Laxity of the tendon stabilising 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. [UManchester:psergouniotis]


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. [UManchester:psergouniotis]


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


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. [PMID:12809156, UManchester:psergouniotis]


Mild visual loss
Mild reduction in visual acuity
Mild vision loss

Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation). []


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. []


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. []


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. []


A type of focal cortical dysplasia that is characterized by abnormal cortical layering. [COST:neuromig, PMID:21219302]


A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination. [COST:neuromig, PMID:21219302]


A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination. [COST:neuromig, PMID:21219302]


A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination. [COST:neuromig, PMID:21219302]


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. [COST:neuromig, PMID:21219302]


A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). [COST:neuromig, PMID:21219302]


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. [COST:neuromig, PMID:21219302]


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). [COST:neuromig, PMID:21219302]


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. [COST:neuromig, PMID:21219302]


Mild malformation of cortical development

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. [COST:neuromig, PMID:21219302]


Abnormal serum bicarbonate concentration

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


Decreased serum bicarbonate concentration

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


Elevated serum bicarbonate concentration

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


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. [PMID:8126784]


Anti-thyroid globulin antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin. [ORCID:0000-0002-3387-1836, PMID:21196203, PMID:33144894, PMID:33999913, PMID:34634575]


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. [PMID:17374867]


Elevated CSF urate concentration
Increased cerebrospinal fluid urate

Increased concentration of urate in the cerebrospinal fluid. []


Detection of barbiturate metabolites such as phenobarbital in meconium. []


Detection of barbiturate metabolites such as phenobarbital in the hair. []


Detection of barbiturate metabolites such as phenobarbital in the stool. []


Detection of barbiturate metabolites such as phenobarbital in the gastric fluid. []


Abnormal circulating N-nicotinoylglycine level

Abnormal circulating nicotinurate concentration

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


Increased circulating N-nicotinoylglycine level

Increased circulating nicotinurate level

An increased amount of nicotinurate in the blood. []


Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum. []


Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum. [PMID:10027825]


Folate deficiency in cerebrospinal fluid

A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid. [PMID:15581159]


An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level. [PMID:7926229]


An abnormally high level of blood oxygen in the cord blood. []


An abnormally low level of blood oxygen in the cord blood. []


Abnormally elevated blood carbon dioxide (CO2) level in the cord blood. []


Abnormally decreased blood carbon dioxide (CO2) level in the cord blood. []


Abnormal blood 5-methyltetrahydrofolate level

An abnormal concentration of 5-methyltetrahydrofolate in the blood. []


Reduced blood 5-methyltetrahydrofolate level

A decreased concentration of 5-methyltetrahydrofolate in the blood. []