facial spasm

description: Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.


pelvic organ prolapse

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence.


EEG with temporal sharp slow waves

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

description: EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.


Decreased cardiac index

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


Nevus sebaceus

description: A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood.


name: Abnormal circulating carbohydrate concentration

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


Anti-enterocyte antibody positivity

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


name: Increased level of N-acetylneuraminic acid in urine

description: An increase in the level of N-acetylneuraminic acid in the urine.


Frontoparietal cortical dysplasia

description: The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe.


Renal arteriole intima/media necrosis

description: Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney.


Abnormal B cell count

description: A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.


Skin fissure

description: A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.


name: Abnormal circulating nitrogen compound concentration

description: Any deviation from the normal concentration of a nitrogen compound in the blood circulation.


Reduced urinary inosine level

description: The amount of inosine in the urine, normalized for urine concentration, is below the lower limit of normal. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond.


Short proximal phalanx of the 2nd toe

description: Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia.


Hyperleucinemia

description: An increased concentration of leucine in the blood.


Fractured metatarsal bone of digit 4

description: A partial or complete breakage of the metatarsal bone of digit 4.


EEG with burst suppression

description: The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.


Reduced antithrombin antigen

description: Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation.


Intellectual disability, profound

description: Profound mental retardation is defined as an intelligence quotient (IQ) below 20.


Left bundle branch block

description: A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.


Abnormal aortic morphology

description: An abnormality of the aorta.


Hepatic sinusoidal dilatation

description: Presence of an increased amount of blood in the hepatic capillaries.


Upper lip pit

description: Depression located on the vermilion of the upper lip, usually paramedian.


Anti-Homer-3 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3.


Impaired tandem gait

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


Ileocecal ulcer

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


name: Elevated circulating glutathione concentration

description: An abnormally increased level of glutathione in the blood circulation.


name: Proximal/middle symphalangism of 2nd toe

description: Bony fusion of the middle and proximal phalanges of the 2nd toe.


Anti-AK5 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5).


craniorachischisis

description: Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.


Spasticity of facial muscles

description: Spasticity of one or more muscles innervated by the facial nerve.


Elevated urinary 2-oxoisocaproic level

description: The amount of 2-oxoisocaproic in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Confetti hypopigmentation pattern of lower leg skin


name: Focal EEG discharges with propagation to ipsilateral hemisphere

description: Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain.


Abnormal myocardium morphology

description: A structural anomaly of the muscle layer of the heart wall.


Hyperglycinemia

description: An elevated concentration of glycine in the blood.


Webbed penis

description: Ventral skinfold extending from penis to scrotum.


name: Abnormal radioactive iodine uptake test result

description: Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.


name: Elevated urine 3-methyladipic acid level

description: The amount of 3-methyladipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Abnormal extrahepatic bile duct morphology


Focal automatism seizure

description: A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity.


name: Focal autonomic seizure with pallor/flushing

description: A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature.


name: Contracture of the metacarpophalangeal joint of the 2nd finger

description: Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue.


Decreased portal vein velocity

description: A reduction in the velocity of portal venous flow, generally measured by Doppler ultrasound. Portal venous flow is normally towards the liver with peak systolic velocities in the range of 20-40 cm/s.


parathyroid hyperplasia

description: A hyperplasia that involves the parathyroid gland.


Incomplete cleft of the upper lip

description: Cleft of the upper lip that does not go all the way from the bottom of the upper lip until the nasal cavity.


Generalized amyloid deposition

description: A diffuse form of amyloidosis.


Abnormal seminal vesicle morphology

description: A structural abnormality of the seminal vesicle. The seminal vesicles are a pair of glands that also include the prostate gland and the bulbourethral glands and are located in the pelvis superior to the rectum, inferior to the fundus of the bladder and posterior to the prostate. The seminal vesicles contribute around 70% of the fluid that will eventually become semen.


name: Increased circulating iron concentration

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


name: Pigmented micronodular adrenocortical disease


Sterile arthritis

description: An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures.


Macrozoospermia

description: Increased size of the head of sperm.


name: Tetralogy of Fallot with pulmonary stenosis

description: The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus.


name: Abnormal size of nasopharyngeal adenoids

description: A deviation in the size of nasopharyngeal adenoids.


Abnormal femoral artery morphology

description: Any structural abnormality of the femoral artey, a large blood vessel that provides oxygenated blood to lower extremity structures and in part to the lower anterior abdominal wall.


Plantar pits

description: The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.


Localized hirsutism

description: Abnormally increased hair growth with a localized distribution.


Flight of ideas

description: Successive thoughts and speech are easily diverted by external stimuli or internal superficial associations.


name: Abnormal cortical peritubular capillary morphology

description: Anomalous structure of the peritubular capillaries located in the cortex of the kidney.


Anti-DPPX antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX).


name: Elevated circulating transferrin concentration

description: An abnormally increased concentration of transferrin in the blood circulation.


Acute otitis media

description: Acute otitis media is a short and generally painful infection of the middle ear.


Abnormal coronary artery course

description: An abnormal path of a coronary artery.


Neonatal epiphyseal stippling

description: The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period.


Arachnoid hemangiomatosis

description: The presence of multiple hemangiomas in the arachnoid.


Enteroviral hepatitis

description: Inflammation of the liver due to infection with enterovirus.


Narrow nail

description: Decreased width of nail.


Plant product allergy

description: Hypersensitivity in form of an adverse immune reaction against plant products.


Status cribrosum

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


Elbow dislocation

description: Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.


Positive cold agglutinin test

description: Cold agglutinin are erythrocyte antibodies which possess the property of agglutinating red blood cells at temperatures of below 37 degrees C, this phenomenon is reversible after heating.


Myelin outfoldings

description: The presence of excessive redundant myelin in the peripheral nerve sheath.


Increased HDL2a concentration

description: An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.


name: Irregular epiphysis of the middle phalanx of the 4th toe


Amplification of relationship seeking

description: Increased frequency or duration in social outings and interactions as part of relationship-seeking or maintenance compared to the previous norms of an individual.


Renal hypophosphatemia

description: Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion.


APUdoma

description: An endocrine tumor arising from an APUD cell.


spastic quadriplegic cerebral palsy

description: A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities.


Decreased serum bile acid concentration

description: A reduction in the concentration of bile acid in the blood.


Calcium channel antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels.


Myocardial calcification

description: Calcium deposition in the myocardium.


subependymal giant cell astrocytoma

description: A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO)


Dysmorphic inferior cerebellar vermis

description: A structural anomaly of the inferior portion of the vermis of cerebellum.


Progressive language deterioration

description: Progressive loss of previously present language abilities.


Short middle phalanx of the 2nd toe

description: Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia.


Abnormal pulmonary situs morphology

description: An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi.


name: Contracture of the metacarpophalangeal joint of the 3rd finger

description: Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue.


Hand dimple

description: A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand.


Abnormality of dental structure

description: An abnormality of the structure or composition of the teeth.


name: Hyperchromasia of renal tubular epithelial cells

description: At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes.


Everted lower lip vermilion

description: An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.


Abnormal urinary guanosine level

description: The amount of guanosine in the urine, normalized for urine concentration, is outside the limits of normal.


Bethlem sign

description: Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures.


Fractured proximal phalanx of digit 2

description: A partial or complete breakage of the proximal phalanx of digit 2.


Saccular aortic arch aneurysm

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


name: Contracture of the distal interphalangeal joint of the 4th finger

description: Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue.


XK aprosencephaly

description: XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.


Intrarenal abscess

description: An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis.


Elevated urine pyridinoline level

description: An increased amount of pyridinoline in the urine.


Hyperconvex toenail

description: When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity.


Simplified gyral pattern

description: An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.


Brain imaging abnormality

description: An anomaly of metabolism or structure of the brain identified by imaging.


Acute colitis

description: An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum).


Fetal cystic hygroma

description: The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas.


impacted teeth, multiple

description: The presence of multiple impacted teeth.


Elevated circulating CCL18 level

description: An increased concentration of C-C motif chemokine ligand 18 in the blood circulation.


description: A form of lactic acidemia that occurs in relation to stress or infection.


Fragmented elastic fibers in the dermis

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


name: Abnormal circulating monocarboxylic acid concentration

description: Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation.


Shoulder girdle muscle weakness

description: The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.


Aplasia of the vestibular nerve.

description: Absence of the vestibular nerve


Abnormal penile discharge

description: Fluid that originates from the urethra that is not urine, pre-ejaculate or semen.


Episodic ketoacidosis

description: Intermittent episodes of ketoacidosis.


Abnormality of mental function

description: Cognitive, psychiatric, or memory anomaly.


name: Renal arteriole leukocytic endoarterial hypercellularity

description: A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes).


Absent patellar reflexes

description: Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.


Absent hallux

description: Aplasia of the hallux, that is, a development defect such that the big toe does not develop.


Hypergranulosis

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


name: Abnormal circulating inhibin B concentration

description: The concentration of inhibin B in the blood circulation is outside the limits of normal.


name: Triangular epiphysis of the distal phalanx of the 2nd toe


name: Abnormal circulating adrenocorticotropin concentration

description: An abnormal concentration of corticotropin in the blood.


name: Abnormal proportion of CD4+ central memory cells

description: An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype.


Small intestinal stenosis

description: The narrowing or partial blockage of a portion of the small intestine.


Microprolactinoma

description: A pituitary prolactin cell adenoma of less than 10 mm diameter.


Toe joint contracture

description: Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a toe joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.


Elevated circulating succinate

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


Increased blood urea nitrogen

description: An increased amount of nitrogen in the form of urea in the blood.


Aplasia/Hypoplasia of the maxilla

description: Absence or underdevelopment of the maxilla.


metabolic acidosis

description: Increased acidity in the blood secondary to acid base imbalance. Causes include diabetes, kidney failure and shock.


name: Stippling of the epiphysis of the proximal phalanx of the 5th toe

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe.


Migratory arthritis

description: A form of reactive arthritis in which the inflammation moves between joints.


name: White mater abnormalities in the posterior periventricular region


adrenal medulla neoplasm

description: A neoplasm (disease) that involves the adrenal medulla.


Temporal artery giant cells

description: The presence of giant cells in the temporal artery. This is a feature of giant cell arteritis. Giant cells are multinucleated cells formed by fusion of multiple macrophages and are typically located in the intima of the arterial wall. This feature is typically demonstrated by temporal artery biopsy but other arteries may also be affected.


Tongue edema

description: An abnormal accumulation of fluid and swelling in the tongue.


Aplasia of the falx cerebri

description: A developmental defect characterized by aplasia of the Falx cerebri.


Aortopulmonary collateral arteries

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


name: Arcuate artery intima/media coagulative necrosis

description: A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures.


Foot dorsiflexor weakness

description: Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.


name: Abnormal proportion of naive CD8 T cells

description: Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells.


Pulmonary histoplasmosis

description: Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum.


Brain atrophy

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


name: Atrophy/Degeneration involving the corticospinal tracts


name: congenital absence of upper arm and forearm with hand present

description: A congenital malformation in which the upper portion of a limb is either shortened or absent.


Self-healing squamous epithelioma

description: A type of skin tumor that initially presents as a reddish macule and subsequently becomes papular, enlarged, ulcerated and ultimately heals leaving pitted scars.


name: Elevated alkaline phosphatase of hepatic origin

description: An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.


Lipoma of the tongue

description: A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue.


name: Patchy sclerosis of proximal toe phalanx

description: Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.


Bilambdoid synostosis

description: Premature synostosis of both lambdoid sutures.


Anti-Kv1.4 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4.


tracheal calcification

description: Abnormal deposits of calcium in the tracheal tissue.


Focal motor seizure with version

description: A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation.


Abnormal isohemagglutinin level

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


Abnormal CSF glucose concentration

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


Elevated urinary glutarylglycine level

description: The amount of glutarylglycine in the urine, normalized for urine concentration, is below the lower limit of normal.


Decreased FOXP3-expressing T cell count

description: The number of T cells in peripheral blood that express FOXP3-expressing is below the lower limit of normal. This finding is determined by flow cytometry.


name: Focal impaired awareness cognitive seizure with left-right confusion

description: A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure.


Cardiac myxoma

description: A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber.


Staghorn calculus

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


Transmantle columnar heterotopia

description: Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma.


Decreased fecal pH

description: Abnormally low fecal pH, i.e., abnormal acidity of feces.


Reverse typical atrial flutter

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


Bicarbonaturia

description: Abnormally increased concentration of hydrogencarbonate in the urine.


Oromotor apraxia

description: Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control.


Delayed tarsal ossification

description: Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


Sparse axillary hair

description: Reduced number or density of axillary hair.


name: Starry sky appearance on hepatic sonography

description: An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background).


Delayed calcaneal ossification

description: Delayed maturation and calcification of the calcaneus.


Astereognosis

description: Tactile agnosia refers to the inability to recognize objects by touch, while the inability to discriminate shape and size by touch is also a related condition.


name: Elevated circulating soluble CD163 concentration

description: The concentration of Soluble CD163 in the blood circulation is above the upper limit of normal.


Intrusion symptom

description: Unintentional re-experiencing of a traumatic event involves symptoms that typically include sensory impressions and emotional responses stemming from the trauma. These symptoms seem to lack a sense of time perspective and context.


name: Abnormal circulating leucine concentration

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


Clasp-knife sign

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


Focal T2 hyperintense brainstem lesion

description: A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.


trichilemmal cyst

description: Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous.


Enteroviral encephalitis

description: Inflamation of the brain related to infection by an enterovirus.


Bronchial wall thickening

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


Dull

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


Accessory ectopic thyroid tissue

description: Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract.


Stereotypical body rocking

description: Habitual repetitive movement of the entire body, front to back or side to side.


Labial hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip.


Subpleural interstitial thickening

description: Increase in thickness of the subpleural interstitium.


name: Reduced epidermal integrin alpha6beta4 protein expression


Focal impaired awareness tonic seizure

description: A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure.


name: Anti-threonyl-tRNA synthetase antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against threonyl-tRNA synthetase.


Prominence of the premaxilla

description: Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.


sebocystomatosis

description: Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.


atrial septal aneurysm

description: A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography.


Shoulder flexion contracture

description: Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.


Paraplegia/paraparesis

description: Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength.


name: Osteolytic defects of the phalanges of the toes


name: Reduced circulating squalene concentration

description: The concentration of squalene in the blood circulation is below the lower limit of normal.


Laeden paralysis

description: The sensation of having heavy arms and legs, or feeling a heaviness in the limbs.


Exercise-induced rhabdomyolysis

description: Rhabdomyolysis induced by exercise.


Concentric hypertrophic cardiomyopathy

description: Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.


Whooping cough

description: A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air.


lip neoplasm

description: A neoplasm (disease) that involves the lip.


Ambiguous facial expression

description: Spontaneous production of communicative facial expressions that have poor quality or are perceived as odd or mechanical. This may include inaccurate mimicry of typical facial expressions. These expressions may be difficult to interpret for someone who is not familiar with the individual making the expression.


Inflammatory myopathy

description: Chronic muscle inflammation accompanied by muscle weakness.


name: Abnormal brain FDG positron emission tomography

description: An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.


Impaired mastication

description: An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.


name: Sclerosis of the distal phalanx of the thumb

description: An elevation of bone density in the distal phalanx of the thumb.


Tooth agenesis

description: The absence of one or more teeth from the normal series by a failure to develop


name: idiopathic spontaneous coronary artery dissection

description: The spontaneous occurrence of a dissection of the coronary artery. The clinical recognition of this phenomenon has increased as coronary angiography is becoming more commonly used in the treatment of acute coronary syndrome. The etiology of the condition has not been fully elucidated, but the mean age of presentation is 30-45 years, more than 70% are women, and 30% of cases occur in the peripartum period.


name: Increased CSF alpha-aminobutyrate concentration

description: Concentration of alpha-aminobutyrate in the cerebrospinal fluid above the upper limit of normal.


Abnormal enteric ganglion morphology

description: An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow.


Global glomerulosclerosis

description: Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%.


Abnormal CSF leucine concentration

description: Any deviation from the normal concentration of leucine in the cerebrospinal fluid.


Skin erosion

description: A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.


Tachylalia

description: Fast speech.


Limb fasciculations

description: Fasciculations affecting the musculature of the arms and legs.


Arterial stenosis

description: Narrowing or constriction of the inner surface (lumen) of an artery.


Cleft mandible

description: Midline deficiency of the mandible and some or all overlying tissues.


Follicular hyperplasia

description: Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.


Hypoplasia of the anterior nasal spine

description: Underdevelopment of the anterior nasal spine of maxilla.


Pulmonary artery sling

description: An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum.


Brachymetatarsus 4

description: Underdevelopment (hypoplasia) of the fourth toe.


Papule

description: A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.


name: Bracket epiphysis of the proximal phalanx of the 2nd toe


Triangular nail

description: Nail so wide as long with a distal part presenting an acute angle.


Valinuria

description: Urine valine level above the normal range.


name: Anterior predominant thick cortex pachygyria

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


name: Pseudoepiphysis of the proximal phalanx of the 5th toe

description: A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fifth toe.


Enlarged thalamic volume

description: An increase in the quantity of space occupied by the thalamus.


Secondary microcephaly

description: Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.


Abnormal inflammatory response

description: Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.


Onychogryposis of toenails

description: Thickened toenails.


Multilobulated spleen

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


Anterior pituitary dysgenesis

description: Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.


Abnormal lymphatic vessel morphology

description: A structural anomaly of the vessel that contains or conveys lymph fluid.


Crystalluria

description: The presence of crystals in the urine.


Focal autonomic seizure with erection

description: A type of focal autonomic seizure characterized by penile erection as the initial semiological feature.


name: Contractures of the proximal interphalangeal joint of the 5th toe

description: The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively.


Retrognathia

description: An abnormality in which the mandible is mislocalised posteriorly.


Mobitz type I atrioventricular block

description: A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC)


Elevated CSF sarcosine concentration

description: Concentration of sarcosine in the cerebrospinal fluid (CSF) above the upper limit of normal.


name: Abnormality of the autonomic nervous system

description: An abnormality of the autonomic nervous system.


Abnormal CD4:CD8 ratio

description: Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes.


Chronic metabolic acidosis

description: Longstanding metabolic acidosis.


Orange urine

description: An abnormal orange color of urine.


Giant somatosensory evoked potentials

description: An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.


Acute hyperammonemia

description: An increased concentration of ammonia in the blood with sudden onset.


Treacher-Collins syndrome

description: A congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.


name: Blood pressure substantially higher in arms than legs

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


name: Increased urinary O-linked sialopeptides

description: Excretion of peptides conjugated to sialic acid in the urine.


name: Abnormality of the fontanelles or cranial sutures

description: Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments).


preauricular fistulae, congenital

description: A pit or dimple in front of the ear of a newborn is a common finding; rarely, such a dimple may get infected, which will be manifested with redness and swelling and will require medical attention.


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

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


Abnormality of internal jugular vein

description: An abnormality of an internal jugular vein.


Ectopic kidney

description: A developmental defect in which a kidney is located in an abnormal anatomic position.


Myocardial lymphocytic infiltration

description: An increase in the number of lymphocytes in myocardial tissue.


name: Renal interstitial calcium phosphate deposits

description: The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits.


Abnormal fingernail morphology

description: An abnormality of the fingernails.


Anti-H2A-H2B antibody positivity

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


Anal margin neoplasm

description: A tumor of the anal margin.


Axonal loss

description: A reduction in the number of axons in the peripheral nervous system.


description: Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


Absent speech

description: Complete lack of development of speech and language abilities.


name: Increased circulating beta-2-microglobulin level

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


Conotruncal defect

description: A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.


Pancreatic hyperplasia

description: Hyperplasia of the pancreas.


name: Elevated urinary pyrroline hydroxycarboxylic acid level

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


Abnormal sleep architecture

description: Interruptions during the various stages of sleep.


ovarian gonadoblastoma

description: A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites.


name: Linear arrays of macular hyperkeratoses in flexural areas


name: Increased circulating N-acetylaspartic acid concentration

description: Concentration of N-acetylaspartic acid in the blood circulation above the upper limit of normal.


Juvenile colonic polyposis

description: The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands.


polymorphic light eruption

description: A red, edematous rash that occurs on areas of the skin with recent exposure to sunlight.


Abnormal liver morphology

description: Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.


Elevated brain glycine level by MRS

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


Sinus bradycardia

description: Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.


axonal neuropathy

description: Any nerve disorder affecting the axon of a nerve.


name: Stippling of the epiphysis of the proximal phalanx of the 4th finger

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger.


description: A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset.


Follicular bronchiolitis

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


Bronchopulmonary anastomosis

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


Arterial thrombosis

description: The formation of a blood clot inside an artery.


Increased urinary 3-methylhistidine

description: Increased concentration of 3-methylhistidine in the urine.


Sleep onset insomnia

description: Difficulty initiating sleep, that is, increased sleep onset latency, refers to the condition where it takes 30 minutes or more to fall asleep.


name: Anti-plasminogen binding peptide antibody positivity

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


Nitrituria

description: Presence of nitrites in the urine.


name: Elevated circulating decanoylcarnitine concentration

description: Concentration of decanoylcarnitine (C10:0) in the blood circulation above the upper limit of normal.


name: Increased fecal coproporphyrin III:coproporphyrin I ratio

description: Abnormal relative increase in the amount of fecal coproporphyrin III as compared to coproporphyrin I in the feces.


name: Abnormal superficial temporal artery morphology

description: Any structural abnormality of a superficial temporal artery, originating from the external carotid artery and passing over the zygomatic process. The superficial temporal artery is located on the superficial parts of the forehead and sides of the head and face.


left ventricular noncompaction

description: Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.


name: Shortening of all middle phalanges of the toes

description: Abnormal shortening of all middle phalanges of toes.


Seafood allergy

description: Hypersensitivity in form of an adverse immune reaction against seafood.


name: Abnormal portal venous system morphology

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


Congenital intracerebral calcification

description: The presence of calcium deposition within brain structures that is present already at the time of birth.


Axillary pterygium

description: Presence of a cutaneous membrane (flap) in the armpit.


Titubation

description: Nodding movement of the head or body.


rhabdomyoma

description: A benign mesenchymal tumor arising from skeletal or cardiac muscle.


name: Increased ratio of VWF propeptide to VWF antigen

description: An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA.


name: Complete or near-complete absence of specific antibody response to tetanus vaccine

description: The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.


name: Unbalanced atrioventricular canal defect

description: Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).


name: Irregular epiphysis of the distal phalanx of the 3rd toe


name: Renal interstitial globotriaosylceramide inclusions

description: Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC).


Postprandial hyperglycemia

description: An increased concentration of glucose in the blood following a meal.


Bilateral vestibular schwannoma

description: A bilateral vestibular schwannoma (acoustic neurinoma).


Left unicoronal synostosis

description: Synostosis affecting only the left coronal suture.


osteoarthritis susceptibility 2

description: Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.


Pathologic fracture

description: A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.


Reduced thyroxin-binding globulin

description: An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream.


name: Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration

description: The concentration of N-carbamyl-beta-aminoisobutyric acid in the blood circulation is above the upper limit of normal.


Klippel-Feil syndrome

description: A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.


name: Amplification of emotional responsiveness

description: An increase in the tendency of a person to display emotional responsiveness or emotional empathy towards others during interpersonal interactions as compared to that person's previous norm.


Abnormal platelet granule secretion

description: Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion.


Postaxial polysyndactyly of foot

description: Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe).


Pruritus on foot

description: Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot.


Antepartum hemorrhage

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


Microsleep

description: Sudden onset of extreme drowsiness or falling asleep during the day for a short period of time.


name: Regional left ventricular wall motion abnormality

description: An abnormal motion of a segment of the left ventricle during the cardiac cycle.


Foot pain

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


Tube feeding

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


Morbus Koehler

description: Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis.


name: Abnormal amyloid beta 42 peptide CSF concentration

description: Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form.


name: Anti-liver cytosolic antigen type 1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction.


name: Decreased proportion of CD8-positive T cells

description: A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.


Eyelid myoclonus

description: Marked, involuntary jerking of the eyelids.


Abnormal CSF arginine concentration

description: Any deviation from the normal concentration of arginine in the cerebrospinal fluid.


name: Fractured distal phalanx of manual digit 5

description: A partial or complete breakage of the distal phalanx of manual digit 5.


piebaldism

description: Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.


Anti-mGluR1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1).


Prolonged prothrombin time

description: Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.


name: Elevated bronchoalveolar lavage fluid lymphocyte proportion

description: Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases.


Abnormal urine cytology

description: An anomalous finding in the examination of the urine for cells.


name: Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio

description: A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation.


name: Substantia nigra hypointensity on susceptibility-weighted imaging

description: Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI).


Hand muscle atrophy

description: Muscular atrophy involving the muscles of the hand.


Amniotic Sheet

description: A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion.


Pituitary thyrotropic cell adenoma

description: A type of pituitary adenoma that produces thyroid stimulating hormone (TSH).


name: Focal impaired awareness autonomic seizure

description: A focal autonomic seizure characterized by impaired awareness at some point within the seizure.


Fractured middle phalanx of pes

description: A partial or complete breakage of the middle phalanx of pes.


name: Focal aware cognitive seizure with expressive dysphasia/aphasia

description: A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure.


Splayed superior cerebellar peduncle

description: Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle.


Jejunitis

description: Inflammation of the lining of the middle section of the small intestine.


Elevated urinary 7-biopterin level

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


name: Abnormality of umbilical vein blood flow

description: A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein.


Cementoma

description: An odontogenic tumor of the cementum of tooth.


name: Neonatal electro-clinical non-motor seizure


Neonatal sepsis

description: Systemic inflammatory response to infection in newborn babies.


Ivory epiphyses of the 3rd finger

description: Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


name: EEG with hyperventilation-induced generalized epileptiform discharges

description: Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Tooth malposition

description: Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.


Morbus Kienboeck

description: Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum.


Dislocated wrist

description: An injury of the wrist with displacement of any of the eight carpal bones.


name: Decreased proportion of immature B cells

description: A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).


Imperforate tricuspid valve

description: A tricuspid valve that has failed to open.


Heparan sulfate excretion in urine

description: An increased concentration of heparan sulfates in the urine.


name: Mild malformation of cortical development

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


Fatigable weakness of speech muscles

description: A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


name: Impaired ristocetin cofactor assay activity

description: Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma.


Abnormal ejaculation

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


Abnormal Schwann cell morphology

description: Abnormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function.


Palmoplantar blistering

description: A type of blistering that affects the skin of the palms of the hands and the soles of the feet.


Hyporeflexia of lower limbs

description: Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.


Recurrent pyelonephritis

description: Repeated episodes of pyelonephritis.


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

description: An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


Increased fecal heptacarboxylporphyrin

description: Abnormally high concentration of heptacarboxylporphyrin in feces.


Stridor

description: Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.


Isolated diastolic hypotension

description: A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg).


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

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


Periungual erythema

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


Elevated urinary uridine level

description: Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond.


Abnormal vagina morphology

description: Any structural abnormality of the vagina.


Multiple palmar creases

description: The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease).


Hypoplastic colon

description: Underdevelopment of the colon.


name: Abnormal gastrointestinal vascular morphology


right atrial isomerism

description: A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.


Anti-HLA-A antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-A (HLA-A).


Empty ovarian follicle

description: A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization.


Decreased diastolic blood pressure

description: Abnormal decrease in diastolic blood pressure.


name: Abnormal glucose-6-phosphate dehydrogenase level in tissue

description: An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue.


name: Atrophy/Degeneration involving the spinal cord


Abnormal permanent molar morphology

description: An abnormality of morphology of permanent molar.


name: Abnormal platelet membrane protein expression

description: Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry.


Tracheobronchmegaly

description: Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection.


name: Aplasia of the middle phalanges of the toes


Abnormal metatarsal morphology

description: Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).


Deep S wave in lead V5

description: Abnormal depth of the S wave in lead V5 of the electrocardiogram.


Curvilinear pericallosal lipoma

description: A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum.


Abnormal urine sodium concentration

description: An abnormal concentration of sodium in the urine.


Non-epileptic seizure

description: Psychogenic non-epileptic seizures (PNES) are not abnormal perceptions or abnormal beliefs/judgments, nor are they epileptic attacks. They are behaviors that simulate epileptic attacks, not fully consciously.


Hypoplasia of the fallopian tube

description: Developmental hypoplasia of the fallopian tube.


Anti-factor XI antibody positivity

description: The presence of an antibody in the blood circulation that is directed against factor XI.


maligant granulosa cell tumor of ovary

description: An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites.


Decreased glomerular filtration rate

description: An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.


Coarsened hepatic echotexture

description: The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography.


Abnormal metabolic brain imaging by MRS

description: An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS).


name: Osteolytic defects of the distal phalanx of the 2nd toe


central neurocytoma

description: Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.


name: Elevated circulating sitosterol concentration

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


Bone arteriovenous malformation

description: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in a bone.


Molar incisor malformation

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


name: Absence of CD4-positive, CD25-positive regulatory T cells

description: Lack of CD4+CD25+ T regulatory cells.


name: Elevated circulating ghrelin concentration

description: The concentration of ghrelin in the blood circulation is above the upper limit of normal. Ghrelin is a 28-amino-acid peptide predominantly secreted in the stomach and stimulates appetite and growth hormone (GH) release.


name: Abnormal tricuspid valve annulus morphology

description: Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.


Penile corporal blood gas ischemia

description: Partial pressure of oxygen (pO2) in cavernous blood of the penis is below the lower limit of normal.


basal encephalocele

description: Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares.


Intrascapular pain

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


Anti-desmoglein-1 antibody positivity

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


Alkaline urine

description: Urine pH of 8 or higher.


name: Bullet-shaped distal phalanx of the hallux

description: An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


name: Decreased specific antibody response to protein-conjugated polysaccharide vaccine

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


Milia

description: Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.


Pancreatic abscess

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


Abnormal digit morphology

description: A morphological abnormality of a digit, i.e., of a finger or toe.


name: Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration

description: A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature.


name: Increased groin pigmentation with raindrop depigmentation


Fractured knee

description: A partial or complete breakage of the knee.


name: Impaired renal tubular reabsorption of sodium

description: Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption.


name: Increased proportion of central memory CD4-positive, alpha-beta T cells

description: An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


aneurysm of sinus of Valsalva

description: Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.


Increased circulating trypsinogen

description: An abnormally high concentration of trypsinogen in the blood circulation.


name: Fractured middle phalanx of manual digit 5

description: A partial or complete breakage of the middle phalanx of manual digit 5.


Medullary peritubular capillaritis

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


Tongue atrophy

description: Wasting of the tongue.


Hypothreoninemia

description: A decreased amount of threonine in the blood.


name: Renal interstitial eosinophil infiltration

description: Increased numbers of eosinophils in the interstitial tissues of the kidney.


name: Decreased circulating copper concentration

description: A reduced concentration of copper in the blood.


telogen effluvium

description: A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress.


congenital arteriovenous fistula

description: An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth.


name: Osteolytic defect of the distal phalanx of the thumb

description: Dissolution or degeneration of bone tissue of the distal phalanx of the thumb.


acute leukemia

description: A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).


Perifollicular fibroma

description: Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle.


name: Total absence von Willebrand factor multimers

description: Complete absence of all von Willebrand factor multimers.


description: Increased proportion of immature gamma-delta T cells relative to the total number of T cells.


Neoplasm of the outer ear

description: A tumor (abnormal growth of tissue) of the outer ear.


name: Abnormalities of placenta or umbilical cord

description: An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).


name: Arcuate vein medial/intimal coagulative necrosis

description: A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.


Arcuate artery intima/media necrosis

description: Death of tissue in the inner or middle layer of the arcuate artery of the kidney.


Generalized-onset motor seizure

description: A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.


Elevated urine hyaluronic acid level

description: Excessive amount of hyaluronic acid in urine.


name: Absent epiphysis of the proximal phalanx of the 3rd toe


name: Pachygyria with 5-10 mm cortical thickness

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


thyroglossal duct cyst

description: A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck.


Intratubular hemoglobin casts

description: A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A.


name: Anomalous muscle bundle of the right ventricle

description: An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract.


Increased CSF arginine concentration

description: Abnormally increased levels of arginine in cerebrospinal fluid.


Pure ground-glass pulmonary nodule

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


Abnormal arcuate vein morphology

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


Peg-shaped maxillary lateral incisors

description: A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter


Abnormal pulmonary fissure count

description: A deviation from the normal number of pulmonary fissures.


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


name: Elevated CSF alpha-crystallin B chain concentration

description: The concentration of alpha-crystallin B chain in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Renal interstitial edema

description: Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density.


name: Thyroid defect in oxidation and organification of iodide


Multiple small medullary renal cysts

description: The presence of many cysts in the medulla of the kidney.


Elevated urinary guanosine level

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


name: Renal arteriolar lumen cholesterol emboli

description: Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


Sparse scalp hair

description: Decreased number of hairs per unit area of skin of the scalp.


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

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


EMG: myopathic abnormalities

description: The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.


name: Focal impaired awareness motor seizure with dystonia

description: A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure.


name: Abnormal circulating dehydroepiandrosterone concentration

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


Impaired continence

description: Partial or total incontinence of bowel or bladder.


Fluctuations in consciousness

description: Changes in one's level of awareness and responsiveness to their environment.


spastic diplegia

description: A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy.


Myocardial multinucleated giant cells

description: The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin.


Supernumerary cusp

description: Additional cusps of a dental crown.


Agenesis of canine

description: Agenesis of canine tooth.


Curved 3rd toe phalanx

description: A deviation from the normal straight form of one or more phalanges of the third toe.


name: Fragmentation of the epiphyses of the 2nd toe


name: Extracranial internal carotid artery dissection

description: A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall.


Vaginal myxoma

description: A myxoma (tumor of primitive connective tissue) localized in the vagina.


name: Bullet-shaped middle phalanx of the 3rd toe

description: An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


name: Neonatal electro-clinical autonomic seizure

description: Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea.


Abnormal meiosis

description: Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells.


name: Aplasia/hypoplasia of the uterine cervix

description: Congenital absence or underdevelopment of the uterine cervix.


Increased circulating IgM level

description: An abnormally increased level of immunoglobulin M in blood.


Palmar telangiectasia

description: The presence of telangiectases on the skin of palm of hand.


Mild expressive language delay

description: A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.


Myotonia of the face

description: Slowed relaxation of muscles in the face.


name: Anti-SUMO-activating enzyme subunit 1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1.


Velamentous cord insertion

description: Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta.


Morphea

description: Isolated patches of hardened skin (scleroderma).


Altman type II sacrococcygeal teratoma

description: A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component.


Generalized amyotrophy

description: Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.


amniotic band syndrome

description: A group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies.


polyp of ureter

description: A polyp that involves the ureter.


Anti-H2B antibody positivity

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


Choking episodes

description: Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.


Axillary freckling

description: The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.


Intestinal bleeding

description: Bleeding from the intestines.


Achilles tendon contracture

description: A contracture of the Achilles tendon.


Reduced factor XIII activity

description: Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.


Hyperplasia of the premaxilla

description: An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures.


Broad foot

description: A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.


Violet lip discoloration

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


Naevus flammeus of the eyelid

description: Naevus flammeus localized in the skin of the eyelid.


oromandibular dystonia

description: Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.


name: Elevated circulating apolipoprotein A-II concentration

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


name: Arcuate artery intima/media liquefactive necrosis

description: A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.


Dilatation of the ductus arteriosus

description: Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end.


Morbilliform rash

description: An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days.


name: Elevated circulating apolipoprotein E concentration

description: Concentration of apolipoprotein E above the upper limit of normal.


name: Osteolytic defects of the phalanges of the 5th finger

description: Dissolution or degeneration of bone tissue of the phalanges of the 5th finger.


neoplasm of middle ear

description: A neoplasm (disease) that involves the middle ear.


Reduced maximal inspiratory pressure

description: A decrease in the maximum amount of negative pressure a person can generate during an inhalation.


pleural empyema

description: The presence of pus in the thoracic cavity, between the visceral and parietal pleura.


Violent behavior

description: Conduct and/or behavior, both verbal and non-verbal, including but not limited to verbal and/or physical aggression, attacks, threats, harassment, intimidation, and other disruptive behaviors in any form or through any medium, that cause or have the potential to cause a reasonable person to fear physical harm from any individual(s) or group(s) towards any person(s) or property. This is commonly defined as a violent act characterized by the use of physical force, anger, or sudden intense activity.


Early chronotype

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


Gallbladder perforation

description: Rupture of the wall of the gallbladder.


Adversive status epilepticus

description: A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus.


Nail dysplasia

description: The presence of developmental dysplasia of the nail.


Rib osteolysis

description: Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib.


Increased susceptibility to fractures

description: An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.


Oculoclonic status epilepticus

description: A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges.


Degenerative liver disease

description: The presence of degenerative changes of the liver.


Metabolic alkalosis

description: Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process.


Amniotic constriction rings of arms

description: Amniotic constriction rings affecting the arms.


Abnormal urinary color

description: An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color.


Abnormal lip pigmentation

description: Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.


Peritoneal abscess

description: The presence of an abscess of the peritoneum.


Hemorrhagic ovarian cyst

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


name: Abnormality of the epiphyses of the 3rd toe


Hyperpigmented nodule

description: A nodule of the skin that exhibits an increased amount of pigmentation.


Decreased HDL3a concentration

description: A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.


name: Progressive extrapyramidal movement disorder


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


name: Multifocal cerebral white matter abnormalities


Meckel diverticulum

description: A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction.


Abnormality of the hepatic vasculature

description: An abnormality of the hepatic vasculature.


Pericardial lymphangiectasia

description: An abnormal dilatation of lymph vessels in the pericardium.


Proximal aortic arch hypoplasia

description: A type of aortic arch hypoplasia whereby the proximal aortic arch (arch proximal to the origin of the left subclavian artery) has a diameter of less than 60% of the diameter of the ascending aorta.


Severe global developmental delay

description: A severe delay in the achievement of motor or mental milestones in the domains of development of a child.


name: Atrophy/Degeneration affecting the brainstem


name: Abnormality of the epiphysis of the proximal phalanx of the hallux

description: In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux.


Enlarged mesenteric lymph node

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


Abnormal renal insterstitial morphology

description: Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid.


Anti-factor V antibody positivity

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


name: Increased anti-plant based food allergen IgE antibody level

description: Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits.


protein S deficiency

description: Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals have an increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiency are those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot.


name: Grade II preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle.


Tectal plate enlargement

description: Abnormal increase in size of the tectal plate (also known as the tectum or the quadrigeminal plate). The tectum is the dorsal portion of the midbrain (brainstem).


description: Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1.


name: Decreased pituitary glycoprotein hormone alpha subunit level

description: An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).


Pyriform sperm head

description: Pyriform spermatozoa consist of a normally shaped acrosomal structure which can be normal in size or enlarged, while the post-acrosomal region shows severe elongation and an acute narrowing to the posterior end, ending in about the same thickness as the connecting mid-piece.


dysembryoplastic neuroepithelial tumor

description: A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B


Socially inappropriate behavior

description: Behavior that is not in line with social norms.


Epiphyseal stippling of toe phalanges

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes.


name: Focal aware sensory seizure with hot-cold sensations

description: A seizure characterized by sensations of feeling hot and then cold.


name: Elevated bronchoalveolar lavage fluid eosinophil proportion

description: Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced.


Aortic elastic fiber disorganization

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


name: Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia

description: A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.


name: Apically displaced anterolateral papillary muscle

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


name: Elevated circulating C-reactive protein concentration

description: An abnormal elevation of the C-reactive protein level in the blood circulation.


Anti-SEZ6L2 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2).


Pulmonary infiltrates

description: A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma.


name: Increased circulating procalcitonin concentration

description: An elevated concentration of procalcitonin in the blood circulation.


Broad nail

description: Increased width of nail.


subvalvular aortic stenosis

description: An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects.


Elevated CSF neopterin level

description: Increased concentration of neopterin in the cerebrospinal fluid (CSF).