dens evaginatus

description: Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown).


name: Arcuate artery endoarterial foam cell hypercellularity

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

description: A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.


Acute hepatic steatosis

description: An acute form of hepatic steatosis.


Macroorchidism

description: The presence of abnormally large testes.


Nail psoriasis

description: Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed.


Redundant neck skin

description: Excess skin around the neck, often lying in horizontal folds.


constrictive pericarditis

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

description: A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function.


Reduced sperm motility

description: An abnormal reduction in the mobility of ejaculated sperm.


Diminishment of sexual behavior

description: A reduction of libido (sexual desire), typically accompanied by a reduction in the frequency of sexual activity , and/or activity compared to the affected individual's previous state.


corpus callosum lipoma

description: A rare benign adipose tissue neoplasm of the corpus callosum.


Oliguria

description: Low output of urine, clinically classified as an output below 300-500ml/day.


Facial nerve compression

description: Impingement of another object such as a blood vessel upon the facial nerve, causing it to lose volume in the compressed region.


Amplification of social interactions

description: A increase in the tendency of a person to seek or maintain social connections or interactions with others compared to previous norms for an individual.


name: Focal impaired awareness cognitive seizure with forced thinking

description: A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure.


Hyperosthenuria

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


Hypoplasia of the radius

description: Underdevelopment of the radius.


Irregularly shaped sperm tail

description: Irregular or changing caliber (diameter) along the tail of the sperm.


Redundant skin

description: Loose and sagging skin often associated with loss of skin elasticity.


Sexsomnia

description: Unintentional sexual behavior during sleep, such as masturbation, initiation of sex, or making sexual noises, is known as sexsomnia. Sexsomnia predominantly occurs during NREM sleep.


Glomerular hyaline pseudothrombus

description: Intracapillary amorphous, eosinophilic material consisting of immune deposits.


name: Cone-shaped epiphysis of the proximal phalanx of the 3rd toe


name: Multilamellation of medullary peritubular capillary basement membranes

description: Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers.


Elevated urinary xanthurenic acid level

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


Intense psychological distress to cues

description: Intense or prolonged psychological distress occurs when individuals are exposed to internal or external cues that symbolize or resemble an aspect of the traumatic event or events.


Intellectual disability, moderate

description: Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.


primary ciliary dyskinesia

description: A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).


name: Abnormal circulating hormone concentration

description: Concentration of a hormone in the blood circulation outside of normal limits.


Glomerular subepithelial deposits

description: Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Intratubular calcium oxalate casts

description: Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney.


Hypermelanotic macule

description: A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.


White streaks/specks on enamel.

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


Spastic monoplegia

description: Spastic weakness found in only one upper or lower extremity.


pilocytic astrocytoma

description: Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but occurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.


Slurred speech

description: Abnormal coordination of muscles involved in speech.


anosmia

description: Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions.


capillary malformation

description: A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules).


Abnormal arachnoid mater morphology

description: An abnormality of the Arachnoid mater.


name: Pulmonary arterial hypertension with positive acute response to NO challenge

description: A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at leasy 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm.


name: Aortic smooth muscle cell disorganization

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


Abnormal superficial reflex

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


Abnormal metatarsal ossification

description: Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years.


Abnormal circle of Willis morphology

description: An anomaly of the circle of Willis, also known as the cerebral arterial circle.


Cutaneous syndactyly of toes

description: A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.


Abnormal clitoris morphology

description: Any structural abnormality of the clitoris.


Distal tibial bowing

description: A bending or abnormal curvature of the distal portion of the tibia.


Osteochondroma

description: A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.


name: Sclerosis of the proximal phalanx of the hallux


EEG with parietal sharp slow waves

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


Inferior vena cava obstruction

description: Physical invasion or compression of the inferior vena cava by a pathological process or by thrombosis within the vein itself.


name: Abnormal glomerular mesangial matrix morphology

description: Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix.


Global proximal tubulopathy

description: A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis.


Clumsiness

description: Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.


name: Parkinsonism with favorable response to dopaminergic medication

description: Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.


Derealization

description: Depersonalization is a subjective experience in which an individual feels a sense of detachment or estrangement from their surroundings, leading to a distorted perception of the external world. It is characterized by a feeling of unreality or unfamiliarity with one's environment, as if things are dreamlike, artificial, or lacking in significance.


Increased urinary potassium

description: An increased concentration of potassium(1+) in the urine.


Ventral shortening of foreskin

description: Reduction in length of the ventral (lower) skin of prepuce of penis.


Molarization of premolar

description: Increased size and molar morphology of premolar tooth.


name: autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius

description: Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.


Aplasia/Hypoplasia of toe

description: Absence or hypoplasia of toes.


name: Bilateral asymmetric neonatal sequential seizure

description: Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.


Babinski sign

description: Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.


Midline direction of ventricular apex

description: Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal.


name: Cerebellar dentate nucleus calcification

description: Pathological deposition of calcium salts in the dentate nucleus of the cerebellum.


name: Focal cognitive seizure with receptive dysphasia/aphasia

description: A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation.


Automatic atrial tachycardia

description: Chronic supraventricular tachycardia predominantly seen in childhood.


Beta-alaninuria

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


phosphaturic mesenchymal tumor

description: An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor.


Bladder rupture

description: A perforation in the wall of the urinary bladder. Bladder rupture, a relatively rare condition, is most commonly due to abdominal or pelvic trauma but may be spontaneous or iatrogenic in association with surgical or endoscopic procedures. In most cases, patients with bladder rupture have gross hematuria. Other symptoms of bladder rupture include pelvic pain, lower abdominal pain, and difficulty voiding.


Glomerular basement membrane lucencies

description: Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits.


cardiac diverticulum

description: Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.


Abnormality of renal excretion

description: An altered ability of the kidneys to void urine and/or specific substances.


Inattentiveness illusion

description: Instances in which individuals fail to perceive or notice salient or significant stimuli in their visual field due to a lack of attention.


Fractured proximal phalanx of digit 5

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


Uraciluria

description: Increased concentration of uracil in the urine.


Reduced consciousness

description: Abnormally diminished level of attention, responsiveness, or wakefulness.


Portal vein hypoplasia

description: A developmental defect characterized by underdevelopment of hte portal vein.


Decreased pineal volume

description: An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland.


name: Triangular shaped phalanges of the 4th toe


Renal vasculitis

description: Vasculitis (inflammation of blood vessels) in the kidney. Renal vasculitis can be observed with numerous disorders and presents clinically as rapidly progressive glomerulonephritis (RPGN) which is characterized by acute kidney injury (AKI), haematuria and proteinuria. Histological examination of the kidney reveals severe inflammation in the form of crescent formation, glomerular necrosis and vasculitis of small and medium sized vessels within the kidney.


Duplication of phalanx of toe

description: Partial/complete duplication of one or more phalanx of toe.


name: Pubertal developmental failure in females


Tonic seizure

description: A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.


Compression-fractured cervical vertebra

description: A fracture of the cervical vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.


Cortical radial artery endotheliosis

description: Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling.


Semantic dementia

description: A progressive loss of the ability to remember the meaning of words, faces and objects.


name: Focal impaired awareness sensory seizure with somatosensory features

description: A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure.


name: Decreased urine alpha-ketoglutarate concentration

description: A lower than normal concentration of 2-oxoglutaric acid in the urine.


Aplasia/Hypoplasia of the colon

description: Congenital absence or underdevelopment of the colon.


pineoblastoma

description: Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.


Thymic cyst

description: A closed sac of tissue (cyst) located in the thymus. Thymic cysts are a rare, benign anomaly, are usually asymptomatic, and mostly occur in the anterior mediastinum .


name: Symphalangism affecting the distal phalanx of the 3rd toe


Akathisia

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


Cutaneous telangiectasia

description: Dilated blood vessels on the skin.


description: Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body.


name: Elevated brain gamma-aminobutyric acid by MRS

description: An increase in the level of gamma-aminobutyric acid (GABA) in the brain identified by magnetic resonance spectroscopy (MRS).


Palmoplantar erythema

description: Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin.


Absent nail of hallux

description: Absent nail of big toe.


Testicular ischemia

description: Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the tissue. Clinical manifestations may include pain and swelling of the affected testis.


Head titubation

description: A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.


Elevated urinary dopamine level

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


Abnormal CSF carnosine concentration

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


primary central nervous system lymphoma

description: A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis.


name: Antidromic atrioventricular reentrant tachycardia

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


name: Focal impaired awareness automatism seizure

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


anotia

description: A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.


name: Increased circulating chylomicron concentration

description: Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.


Increased serum estradiol

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


choanal atresia, bilateral

description: Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth.


Extreme axis deviation

description: A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right.


name: Supraventricular tachycardia with a concealed accessory connection

description: Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm.


Ectopia of the spleen

description: An abnormal (non-anatomic) location of the spleen.


name: Decreased circulating carnitine concentration

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


Neonatal epileptic spasm

description: A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters.


congenital mesoblastic nephroma

description: A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis.


Duplication of phalanx of the 3rd toe

description: Partial or complete duplication of phalanx of third toe.


name: Ph-positive acute lymphoblastic leukemia

description: A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity.


Short third metatarsal

description: Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone.


name: Elevated circulating carnitine concentration

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


Abnormal fifth cranial nerve morphology

description: Any structural abnormality of the fifth cranial nerve.


name: Elevated urinary prostaglandin E2 metabolite level

description: An increased amount of prostaglandin E2 metabolite (PGE-M) in the urine.


Mild hearing impairment

description: The presence of a mild form of hearing impairment.


Peripheral cyanosis

description: Bluish discoloration of the distal extremities (hands, fingertips, toes), and can sometimes involve circumoral and periorbital areas. Mucous membranes are generally not involved.


name: anogenital human papillomavirus infection

description: A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia.


Mosaic pulmonary attenuation pattern

description: Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging.


Decreased circulating glycerol level

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


Lower lip pit

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


name: Accumulation of melanosomes in melanocytes


Pregnancy history

description: Medical history of maternal diseases, exposures, or other relevant findings during the pregnancy of which the index person was the product.


Ethylmalonic aciduria

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


Femur fracture

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


fetal lower urinary tract obstruction

description: An obstruction in the ureter leading to bladder outlet obstruction. Special criteria are used for lower urinary tract obstruction (LUTO) in the fetus. Prenatal LUTO has classically been suspected on the basis of three ultrasonographic findings: megacystis, dilated posterior urethra (known as the keyhole sign) and hydronephrosis.


Unilateral facial palsy

description: One-sided weakness of the muscles of facial expression and eye closure.


Cerebral hamartoma

description: The presence of a hamartoma of the cerebrum.


name: Symphalangism affecting the phalanges of the hallux


name: Abnormal cardiac magnetic resonance imaging finding

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


Abnormality of renin-angiotensin system

description: An abnormality of the renin-angiotensin system.


name: Focal impaired awareness autonomic seizure with pallor/flushing

description: A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure.


name: Aplasia cutis congenita over parietal area

description: A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area.


Arm dystonia

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


name: Aplasia cutis congenita on trunk or limbs

description: A developmental defect resulting in the congenital absence of skin on the trunk or the limbs.


Colon perforation

description: A hole (perforation) in the wall of the colon.


Hypokinesia

description: Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.


Abnormality of the pharynx

description: An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.


telangiectasis

description: Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes.


hyperpituitarism

description: Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma.


Abnormality of pain sensation

description: Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain.


pharyngitis

description: Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma.


Truncal ataxia

description: Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.


Calcification of the aorta

description: Calcification, that is, pathological deposition of calcium salts in the aorta.


name: Elevated CSF 5-amino-4-imidazolecarboxyamide concentration

description: The concentration of 5-amino-4-imidazolecarboxyamide in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Prominent superficial veins

description: A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal.


name: Elevated circulating palmitoleylcarnitine concentration

description: An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency.


name: Renal arteriole intima/media arteriolosclerosis

description: Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina.


Focal cognitive seizure with anomia

description: A focal cognitive seizure characterized by anomia as the initial semiological manifestation.


name: Decreased compound muscle action potential amplitude

description: Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve.


name: Fractured distal phalanx of manual digit 3

description: A partial or complete breakage of the distal phalanx of manual digit 3.


brachydactyly type A3

description: Hypoplastic/small middle phalanx of the fifth finger.


Abnormal pulse pressure

description: An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure.


name: Persistent preoccupation with parts of objects

description: A type of abnormal interest characterized by a persistent and intense focus on parts of a toy/object. For example, affected individuals may spin the wheels on a toy car rather than drive the toy car.


Absent circulating B cells

description: Complete lack of mature B cells, that is, of B cells that have left the bone marrow.


Impaired social imitation

description: Reduced use of imitation of tasks or movements of others in play or learning.


Abnormal liver parenchyma morphology

description: A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.


Decreased urinary sulfate

description: Decreased concentration of sulfate in the urine.


Venous stenosis

description: Narrowing of a vein due to intimal hyperplasia and fibrosis.


name: Patchy sclerosis of the middle phalanx of the 2nd toe


name: Pseudoepiphysis of the distal phalanx of the 4th toe


Addictive behavior

description: When an activity, substance, object, or behavior becomes a major focus of a person's life, excluding other activities, or has begun to harm the individual or others physically, mentally, or socially, it can be considered addictive behavior. A person can become addicted or compulsively engaged with anything.


Pontine T2 hypointensity

description: A darker than expected T2 signal on magnetic resonance imaging (MRI) of the pons.


Acrosomal hypoplasia

description: Reduction in the size of the acrosome of the head of spermatozoa.


Absent distal phalanx of the 2nd toe

description: Absence of distal phalanx of the second toe as a result of developmental aplasia.


name: Abnormal bronchoalveolar lavage fluid morphology

description: Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions.


Scrotal hypospadias

description: Hypospadias with location of the urethral meatus in the scrotum.


Bilineage myelodysplasia

description: Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic.


Abnormal vestibular function

description: An abnormality of the functioning of the vestibular apparatus.


ectodermal dysplasia syndrome

description: The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.


Localized hypoplasia of dental enamel

description: A localized form of developmental hypoplasia of the dental enamel.


Microform unilateral cleft lip

description: Notch, groove, or scar of the upper lip without noticeable rupture of the lip. Microforms are sometimes associated with disruption of the continuity of the orbicularis oris muscle.


Narrow penis

description: Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age.


Lumbosacral hirsutism

description: Abnormally increased hair growth in the lumbosacral region.


Progressive hearing impairment

description: A progressive form of hearing impairment.


name: Focal aware motor seizure with paresis/paralysis

description: A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure.


Abnormal axial skeleton morphology

description: An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.


Common carotid artery dissection

description: A separation (dissection) of the layers of the common carotid artery wall.


Abnormal third ventricle morphology

description: An abnormality of the third ventricle.


name: Aplasia/Hypoplasia of the middle phalanx of the 5th toe


erythromelalgia

description: A rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders.


Perifollicular hyperkeratosis

description: Increased amount of keratin (visible as white scales) surrounding hair follicles.


name: EEG with generalized low amplitude activity

description: An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


EEG with generalized sharp slow waves

description: EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.


Septate vagina

description: The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.


name: Abnormal great auricular nerve morphology

description: Any structural anomaly of a great auricular nerve.


Hyperketonemia

description: An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood.


Abnormal serum bile acid concentration

description: A deviation from the normal concentration of serum bile acid concentration.


Low-molecular-weight proteinuria

description: Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).


Genital blistering

description: The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.


name: Increased circulating dehydroepiandrosterone concentration

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


Infantile encephalopathy

description: Encephalopathy with onset in the infantile period.


name: Abnormal cardiomyocyte connexin43 staining

description: Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases.


Limb dystonia

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


name: Coarctation in the transverse aortic arch

description: Narrowing or constriction of the aorta localized to the region of the transverse aortic arch.


Axial dystonia

description: A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.


name: Triangular shaped proximal phalanges of the toes


name: Elevated circulating tetracosanoic acid concentration

description: Elevated concentration of tetracosanoic acid (a C24 straight-chain saturated fatty acid) in the blood circulation.


Gonadal neoplasm

description: A tumor (abnormal growth of tissue) of a gonad.


bronchogenic cyst

description: Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum.


name: Sclerosis of the proximal phalanx of the 3rd toe

description: An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


name: Abnormality of the epiphysis of the middle phalanx of the 5th toe


Selective tooth agenesis

description: Agenesis specifically affecting one of the classes incisor, premolar, or molar.


Global mesangial sclerosis

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


Addictive sedative use

description: Misuse and/or abuse of sedative drugs.


dysgerminoma

description: A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage.


Urinary glycosaminoglycan excretion

description: Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.


name: Abnormal peripheral action potential amplitude

description: An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve.


Lymphoid cholangitis

description: Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement.


muscular atrophy

description: The loss of muscle tissue due to inactivity or disease.


name: Sclerosis of the middle phalanx of the 3rd toe

description: An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Focal active colitis

description: Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation.


renal agenesis

description: Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s).


Ventricular flutter

description: A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance.


Oocyte arrest at metaphase I

description: Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage.


name: Impaired renal tubular reabsorption of bicarbonate

description: Decreased renal tubular reabsorption of bicarbonate.


Focal T2 hypointense brainstem lesion

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


name: Loss of glomerular endothelial cell fenestration

description: Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm.


Abnormality of the lower limb

description: An abnormality of the leg.


Uterine cervix mass

description: A swelling or enlargment localized to the cervis of the uterus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


Impaired executive functioning

description: A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia.


name: Decreased circulating beta-carotene concentration

description: The concentration of beta-carotene in the blood circulation is below the lower limit of normal.


name: Right ventricular outlet tract obstruction

description: An obstruction to the forward flow of blood in the outflow tract of the right ventricle.


alveolar soft part sarcoma

description: An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh.


Paraseptal emphysema

description: Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae.


adenoid hypertrophy

description: An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing.


Simultanapraxia

description: A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue.


breast abscess

description: A breast disease characterized by a collection of pus in the breast.


name: Abnormality of central nervous system electrophysiology


Redundant skin on fingers

description: Loose and sagging skin of the fingers.


Abnormal scrotum morphology

description: Any structural abnormality of the scrotum, i.e., the sac that contains the testes, epididymis, and the lower part of the spermatic cord.


Clitoral hypertrophy

description: Hypertrophy of the clitoris.


Spermatocyte maturation arrest

description: A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatocyte stage. Testicular histology shows seminiferous tubules with Sertoli cells, spermatogonial cells and spermatocytes but no further differentiated cells like round spermatids.


name: Right aortic arch with retroesophageal left subclavian artery


upper limb mesomelic dysplasia

description: This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.


facial paralysis

description: Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis.


name: Abnormality of lipoprotein cholesterol concentration

description: An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood.


Recurrent hand flapping

description: A type of repetitive behavior in which the affected individual repeatedly waves the hands and/or arms rhythmically.


Penile swelling

description: Abormal enlargement of the penis owing to accumulation of fluid.


Kaposi's sarcoma

description: A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS).


Thymic carcinoid tumor

description: A primary thymic neuroendocrine tumor.


Hyperpigmented genitalia

description: Localized or generalized increased genital pigmentation.


Renal hamartoma

description: A disordered proliferation of mature tissues that are native to the kidneys.


Abnormal cerebellar vermis morphology

description: An anomaly of the vermis of cerebellum.


Delayed ability to stand

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


name: Abnormal interlobular vein lumen morphology

description: Any structural anomaly located in the the inside space of the interlobular veins of the kidney.


name: Delayed brainstem auditory evoked response conduction time

description: An abnormal increase (delay) in the conduction time of the brainstem auditory-evoked response.


epiphysiolysis of the hip

description: Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee).


urethral stricture

description: Narrowing of any part of the urethra. It is characterized by decreased urinary stream and often other obstructive voiding symptoms.


Hypochloriduria

description: An decreased concentration of chloride in the urine.


Spinal arachnoid cyst

description: Presence of arachnoid cysts of the spinal canal extradurally in the epidural space.


Decreased CSF albumin concentration

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


Femoral hernia

description: A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal.


Agenesis of pulmonary vessels

description: A developmental defect characterized by the lack of formation of the pulmonary blood vessels.


Abnormal pulmonary valve morphology

description: Any structural abnormality of the pulmonary valve.


name: Focal motor seizure with paresis/paralysis

description: A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation.


Premature eruption of permanent teeth

description: Premature tooth eruption of the permanent dentition.


name: Abnormality of circulating glucocorticoid level

description: An abnormality of the concentration of a glucocorticoid in the blood.


Motor conduction block

description: Blockade of impulses at a focal site along the course of a motor axon.


Mesangial fibril deposition

description: Extracellular mesangial accumulation of slender proteinaceous fibers.


name: Triangular epiphysis of the proximal phalanx of the 4th toe


Abnormal dental enamel morphology

description: An abnormality of the dental enamel.


Prolonged bleeding following procedure

description: Prolonged or protracted bleeding following an invasive procedure or intervention.


Aphasic status epilepticus

description: Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit.


Intermittent diarrhea

description: Repeated episodes of diarrhea separated by periods without diarrhea.


Abnormal sudomotor regulation

description: An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration.


Perioral erythema

description: Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth.


name: Focal cognitive seizure with dysgraphia/agraphia

description: A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation.


Endocrine-type tubular atrophy

description: A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes.


Reduced attention regulation

description: An abnormality in one's ability to control their attention towards a specific subject or task can include difficulties in changing or maintaining attention.


Right axis deviation

description: A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used.


Cerebellar vermis atrophy

description: Wasting (atrophy) of the vermis of cerebellum.


Splanchnic vein thrombosis

description: The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity).


name: Clumping of elastic fibers in the dermis

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


name: Bilateral multifocal epileptiform discharges

description: Epileptiform discharges being identified at multiple locations in both hemispheres.


Oral mucosal blisters

description: Blisters arising in the mouth.


Curved distal phalanx of the 4th toe

description: A deviation from the normal straight form of the distal phalanx of the fourth toe.


Focal aware motor seizure with dystonia

description: A focal motor seizure with dystonia characterized by retained awareness throughout the seizure.


name: Predominantly epidermal neutrophilic infiltrate

description: Collection of neutrophils in the epidermis.


Jaw hyperreflexia

description: Increased intensity of muscle tendon reflexes in jaw.


Abnormal cardiac atrium morphology

description: Any structural abnormality of a cardiac atrium.


Microform cleft of the upper lip

description: Notch, groove, or scar of the upper lip without noticeable rupture of the lip.


Abnormality of the pulmonary artery

description: An abnormality of the pulmonary artery.


Abnormal blood ion concentration

description: Abnormality of the homeostasis (concentration) of a monoatomic ion.


Spermatogonial maturation arrest

description: A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatogonial stage. Testicular histology shows seminiferous tubules with Sertoli cells and spermatogonial cells but no further differentiated cells like spermatocytes or round spermatids.


name: Cortical radial artery intima/media coagulative necrosis

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


Hypoplasia of the frontal lobes

description: Underdevelopment of the frontal lobe of the cerebrum.


Decreased urine creatinine level

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


Abnormal central motor function

description: An anomaly of the control or production of movement in the central nervous system.


name: Ventricular preexcitation with multiple accessory pathways

description: A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction.


Fractured shoulder

description: A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint.


Grade IV vesicoureteral reflux

description: Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter.


2-oxoadipic aciduria

description: The amount of 2-oxoadipic acid in the urine, normaliyed for urine concentration, is above the upper limit of normal.


uniparental disomy

description: A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders.


name: Progressive extrapyramidal muscular rigidity

description: A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).


dysautonomia

description: An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis.


name: Aplasia/Hypoplasia of the cerebellar vermis

description: Absence or underdevelopment of the vermis of cerebellum.


Fetal skin edema

description: A separation of skin in one or more regions of the body or even along the entire length of body wall (to a degree greater than gestational-age related norms) related to pathologically increased fluid accumulation in the subcutaneous tissue.


Type II atherosclerotic lesion

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


Uterine rupture

description: The complete, nonsurgical disruption of all layers of the uterus.


Inferior cerebellar vermis hypoplasia

description: Underdevelopment of the inferior portion of the vermis of cerebellum.


Poor gross motor coordination

description: An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts.


Angulation of penis

description: Abnormally increased curvature of the penis.


name: Aplasia/Hypoplasia involving the corticospinal tracts


IgM heavy chain paraproteinemia

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


Abnormality of the bladder

description: An abnormality of the urinary bladder.


Hepatic lobular inflammation

description: Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes).


Hypoplasia of teeth

description: Developmental hypoplasia of teeth.


keratosis pilaris

description: A form of dry skin characterized by hair follicles plugged by scale.


Ureteral hamartoma

description: A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the ureter.


Dry hair

description: Hair that lacks the luster (shine or gleam) of normal hair.


Peripheral schwannoma

description: The presence of a peripheral schwannoma.


Focal T1 hyperintense brainstem lesion

description: A lighter than expected T1 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.


Deficit in phonologic short-term memory

description: Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory


Renal cortical adenoma

description: The presence of an adenoma in the cortex of the kidney.


Oligodontia

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


Myelin-dependent gliosis

description: A type of gliosis that occurs in the vicinity of injured neurons.


testicular agenesis

description: An abnormality of XY sexual development characterized by the absence of both testes at birth.


name: Stippling of the epiphysis of the middle phalanx of the 3rd toe

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe.


Abnormal epidermal morphology

description: An abnormality of the morphology of the epidermis.


name: Osteolytic defects of the distal phalanx of the 3rd toe


histoplasmosis

description: A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated.


Focal emotional seizure with laughing

description: Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'.


Elevated urine fumaric acid level

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


name: Abnormal posterior pituitary morphogenesis

description: An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.


Abnormal choroid plexus morphology

description: An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells.


Distributive shock

description: A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage


Abnormality of skin physiology

description: Any abnormality of the physiological function of the skin.


Large intestinal polyposis

description: The presence of multiple polyps in the large intestine.


Compression-fractured lumbar vertebra

description: A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.


Abnormal hallux morphology

description: This term applies for all abnormalities of the big toe, also called hallux.


Abnormal number of teeth

description: The presence of an altered number of of teeth.


Abnormal drinking behavior

description: Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.


Pyle disease

description: A bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.


name: Abnormal nasopharyngeal adenoid morphology

description: Any abnormality of nasopharyngeal adenoids.


Ventricular preexcitation

description: An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.


name: Duplication of the phalanges of the 5th toe

description: Partial or complete duplication of one or more phalanx of little toe.


name: Partial duplication of the 1st metatarsal

description: A developmental defect consisting in the duplication of part of the first metatarsal bone.


name: Chronic rhinitis due to narrow nasal airway


Thalamic hemorrhage

description: Bleeding in the thalamus.


mutism

description: The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis.


histiocytoma

description: A mesenchymal tumor composed of fibroblastic and histiocytic cells.


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

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


name: Abnormal proportion of marginal zone B cells

description: A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.


name: atrial septal defect, ostium primum type

description: Atrioventricular septal defect with communication at the atrial level only.


Increased urinary copper concentration

description: An increased concentration of copper in the urine.


name: Dextrotransposition of the great arteries

description: A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.


Clubbing of toes

description: Terminal broadening of the toes (distal phalanges of the toes).


mononeuritis multiplex

description: A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome.


factor V deficiency

description: A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.


name: Fractured epiphysis of second metatarsal bone

description: A partial or complete breakage of the epiphysis of second metatarsal bone.


Absence of epidermal lamellar bodies

description: Lack of lamellar bodies (LBs) inthe epidermis. LBs are specialized organelles that contain pro-barrier lipids imparting a fully lamellar internal structure, but also other cargoes such as enzymes (lipid metabolizing and proteolytic), enzyme inhibitors, and antimicrobial peptides.


Abnormal cerebral cortex morphology

description: Any structural abnormality of the cerebral cortex.


Peripheral dysmyelination

description: Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.


motor peripheral neuropathy

description: Inflammation or degeneration of the peripheral motor nerves.


Alveolar bone loss around teeth

description: A decrease in the amount of alveolar bone around the root of a tooth.


Scaling skin

description: Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.


Silver-gray hair

description: Hypopigmented hair that appears silver-gray.


High serum calcifediol

description: An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3.


Microform bilateral cleft lip

description: Bilateral cleft lip in which the cleft lip on both sides are microform, i.e. a notch, groove, or scar without noticeable rupture of the lip.


name: Decreased CSF phenylalanine concentration

description: Abnormally decreased levels of phenylalanine in cerebrospinal fluid.


Cardiomyocyte hypertrophy

description: An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes.


Lipid-laden lymph node macrophages

description: Lymph node with increased numbers of macrophages heavily laden with lipids.


Intraventricular arachnoid cyst

description: An arachnoid cyst located within the ventricular system.


Cervical hypoplasia

description: Underdevelopment of the uterine cervix.


Curved proximal phalanx of the hallux

description: A deviation from the normal straight form of the proximal phalanx of the big toe.


Decreased intestinal transit time

description: A reduction in the length of time required for food to pass through the intestines.


name: Patent ductus arteriosus after birth at term

description: Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater.


acalvaria

description: Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.


Cervical aortic arch

description: The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta.


adrenogenital syndrome

description: Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children.


Increased CSF methionine concentration

description: Concentration of methionine in the cerebrospinal fluid above the upper limit of normal.


Notched P wave

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


Bifid nail

description: A digit with two nails, with at least some soft tissue between them.


Ectopic thymus tissue

description: The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend.


Congenital facial diplegia

description: Facial diplegia (that is, bilateral facial palsy) with congenital onset.


Persistent cloaca

description: Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.


Differential cyanosis

description: Differential degree of bluish discoloration between the upper and lower extremities.


malignant pericardial mesothelioma

description: A rare neoplasm of mesothelial origin that arises from the pericardium.


Increased urinary 1-methylhistidine

description: Increased concentration of 1-methylhistidine in the urine.


Cardiac conduction abnormality

description: Any anomaly of the progression of electrical impulses through the heart.


Recurrent coughing spasms

description: Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing.


Dysgenesis of the hypothalamus

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


EEG with occipital focal spike waves

description: EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.


Abnormal endometrium morphology

description: An anomaly of the inner mucous membrane of the uterus.


name: Anomalous branches of internal carotid artery


Abnormality of the upper urinary tract

description: An abnormality of the upper urinary tract.


Maternal fever in pregnancy

description: The occurence of an elevated body temperature of the mother during pregnancy.


Descending aorta hypoplasia

description: Significant luminal narrowing of a long segment of the descending aorta.


name: Complete duplication of the phalanges of the 2nd toe

description: Complete duplication of a phalanx of second toe.


Dysplastic pulmonary valve

description: A congenital malformation of the pulmonary valve characterized by leaflet deformation.


Global cerebellar dysplasia

description: A type of cerebellar dysplasia that affects the entire cerebellum.


Seminal vesicle cyst

description: A cyst (sac-like mass that may contain serous liquid or semisolid material) caused by distention of the seminal vesicle due to atresia of the ejaculatory duct.


Sensory seeking

description: Unusual interest in sensory aspects of the environment.


Aplasia of the olfactory tract

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


testicular gonadoblastoma

description: A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells.


ureter neoplasm

description: A benign or malignant neoplasm that affects the ureter.


name: Arcuate artery endoarterial neutrophil hypercellularity

description: A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery.


Emotional hypersensitivity

description: Heightened emotional reactivity to environmental stimuli, including the emotions of others.


Insect bite allergy

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


Uterine cervix myxoma

description: A myxoma (tumor of primitive connective tissue) localized to the the cervix of the uterus.


Elevated urinary dihydrouracil level

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


dystonic disorder

description: A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures.


Permanent atrial fibrillation

description: Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.


Oral cavity bleeding

description: Recurrent or excessive bleeding from the mouth.


J wave

description: The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point.


Focal aware hemifacial clonic seizure

description: Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout.


name: Polymorphic focal epileptiform discharges

description: Focal epileptiform discharges of different shapes and frequencies.


Deep longitudinal plantar crease

description: Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.


Abnormal vertebral artery morphology

description: An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system.


Onychotillomania

description: Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails.


name: Reticulonodular pattern on pulmonary HRCT

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


Pericardial friction rub

description: A pericardial friction rub is a grating, to-and-fro sound that occurs in phase with the heart sounds.


Recurrent encephalopathy

description: Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.


Abnormal renal medulla morphology

description: Any structural abnormality of the medulla of the kidney.


name: Functional abnormality of male internal genitalia


Decreased CSF/serum albumin ratio

description: A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.


Struvite nephrolithiasis

description: Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones).


Elevated urine aconitic acid level

description: An abnormally increased level of aconitic acid in the urine.


Thick hair

description: Increased density of hairs, i.e., and elevated number of hairs per unit area.


Midline liver

description: Position of the liver across the middle of the body instead of being in its normal position to the right of the stomach.


name: Abnormal CSF phenylalanine concentration

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


Hyperorality

description: Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects.


Increased CSF glutamine concentration

description: Abnormally increased levels of glutamine in cerebrospinal fluid.


name: Cone-shaped epiphysis of the proximal phalanx of the 5th toe


name: Aplasia of the proximal phalanx of the 2nd toe


Abnormal carotid artery morphology

description: Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches.


Short middle phalanx of the 5th toe

description: Developmental hypoplasia of the middle phalanx of the 5th toe.


name: Stippling of the epiphysis of the 1st metatarsal


T-cell non-Hodgkin lymphoma

description: A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003


Tryptophanuria

description: An increased concentration of tryptophan in the urine.


Cobblestone-like hyperkeratosis

description: The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.


Decreased CSF threonine concentration

description: Abnormally decreased levels of threonine in cerebrospinal fluid.


Oculogyric crisis

description: An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications.


Moderate hearing impairment

description: The presence of a moderate form of hearing impairment.


popliteal cyst

description: A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint.


proximal spinal muscular atrophy

description: Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


Hepatojugular reflux

description: The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux.


Abnormal aortic valve cusp morphology

description: Any structural anomaly of the aortic valve leaflets.


stroke disorder

description: A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event.


name: Elevated circulating glutaric acid concentration

description: An increased concentration of glutaric acid in the blood.


Hypoplasia of the vagina

description: Developmental hypoplasia of the vagina.


Increased level of L-fucose in urine

description: An increase in the level of L-fucose in the urine.


name: Abnormal medullary peritubular capillary morphology

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


Ambiguous genitalia, male

description: Ambiguous genitalia in an individual with XY genetic gender.


name: Right aortic arch with mirror image branching

description: The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.


Abnormal hepatic artery morphology

description: Any structural anomaly of the hepatic artery or its branches.


Abnormal dentin morphology

description: Any abnormality of dentin.


name: Partial duplication of the distal phalanx of the 2nd toe

description: Partial duplication of the distal phalanx of second toe.


Asthenia

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


Pelvic kidney

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


Fractured proximal phalanx of digit 4

description: A partial or complete breakage of the proximal phalanx of digit 4.


Anal stenosis

description: Abnormal narrowing of the anal opening.


Neonatal multifocal clonic seizure

description: Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites.


Trigeminal anesthesia

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


Subaortic ventricular septal bulge

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


Reduced CSF creatine concentration

description: The concentration of creatine in the cerebrospinal fluid (CSF) is below the lower limit of normal.


Snout reflex

description: A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout.


Fractured carpal bone

description: A partial or complete breakage of the carpal bone.


Clinodactyly of the 5th toe

description: Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).


Thyroid dysgenesis

description: A congenital condition characterized by hypoplasia, absence, or ectopic position of the thyroid gland. It is manifested with congenital hypoparathyroidism.


Foamy urine

description: Urine has an increased amount of frothy fine bubbles.


hemifacial hypertrophy

description: Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.


Lower limb phocomelia

description: Phocomelia affecting only the lower limbs.


Hypoglycemic coma

description: Coma induced by low blood sugar.


Abnormal brain-evoked potentials

description: Any anomaly of brain-evoked potentials, defined as potentials generated by exteroceptive stimuli reflect synchronized activity by neuronal and axonal groups in the central nervous system (CNS) resulting from the arrival of nerve impulses after stimulation of a peripheral nerve or its receptors. Depending on the type of stimulus, evoked potentials are categorized as visual (VEP), auditory (AEP), or somatosensory (SSEP). Motor evoked potentials (MEP) occur when the brain's motor area is stimulated. They result from the activation of a sufficient number of motor units.


Osteochondromyxoma

description: A rare benign chondroid and osteoid matrix-producing neoplasm of bone characterized by extensive myxoid changes. OMX originate from bony cortices and have been observed in the nasal region, as well as the tibia and radius.


Agenesis of pineal gland

description: Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present.


name: Bullet-shaped proximal phalanx of the 2nd toe

description: An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Reduced cerebral white matter volume

description: An abnormally low volume of the white matter of the brain.


Elevated left atrial pressure

description: An abnormal increase in magnitude of the pressure in the left atrium.


depressive disorder

description: A melancholy feeling of sadness and despair.


Monocarboxylic aciduria

description: Level of a monocarboxylic acid in the urine above the upper limit of normal. A monocarboxylic acid is an oxoacid containing one carboxy group.


name: Elevated circulating tetradecanoylcarnitine concentration

description: Elevated circulating tetradecanoyl concentration.


renovascular hypertension

description: High blood pressure secondary to renal artery stenosis.


name: Complete heart block with narrow QRS complexes

description: A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex.


Generalized hypoplasia of dental enamel

description: A generalized form of developmental hypoplasia of the dental enamel.


name: Elevated urine 2-hydroxy-3-methylvaleric acid level

description: Amount of 2-hydroxy-3-methylvaleric acid in the urine above the upper limit of normal. 2-Hydroxy-3-methylpentanoic acid or 2-hydroxy-3-methylvaleric acid (HMVA) is an organic acid generated by L-isoleucine metabolism.


Malalignment of the great toenail

description: A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges.


Visceral epithelial cell detachment

description: Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'.


Fusion of the caudate and putamen

description: Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule.


name: Abnormal male internal genitalia morphology

description: An abnormality of the male internal genitalia.


Perseverative thought

description: Manifestations of perseverative thoughts are behaviors that do not meet the demands of the situation, are not the product of deliberation, and may unfold despite counter intention.


Iliac artery aneurysm

description: Abnormal outpouching or sac-like dilatation in the iliac artery.


Small scrotum

description: Apparently small scrotum for age.


Bilioduodenal fistula

description: An abnormal connection between the gallbladder and the duodenum.


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

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


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


Low voltage EEG

description: EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz).


name: Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena

description: A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure.


Elevated urinary porphyrin level

description: The amount of a porphyrin compound in the urine, normalized for urine concentration, is above the upper limit of normal. Porphrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. Porpyrins giove rise to heme and combalamine.


name: Fragmentation of the epiphyses of the 3rd toe


schneckenbecken dysplasia

description: Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.


Childhood-onset truncal obesity

description: Truncal obesity with onset during childhood, defined as between 2 and 10 years of age.


name: Reduced volume of central subdivision of bed nucleus of stria terminalis

description: A diminished volume of the central part of the bed nucleus of the stria terminalis.


Premature loss of permanent teeth

description: Premature loss of the permanent teeth.


Abnormal cellular phenotype

description: An anomaly of cellular morphology or physiology.


Skin plaque

description: A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.


meningocele

description: A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium.


Abnormal venous morphology

description: An anomaly of vein.


name: Pseudoepiphysis of the distal phalanx of the 3rd toe


Mitral opening snap

description: Opening snap is an additional sound heard in the diastole that is related to the opening of a stenotic but mobile mitral valve. It is described as an early diastolic, high-pitched sound, which is associated with opening of the mitral and/or tricuspid valve.


Ovarian cystadenoma

description: A common, benign ovarian tumor that carries a good prognosis. The two most frequent types of cystadenomas are serous and mucinous cystadenomas whereas endometrioid and clear cell cystadenomas are rare.


name: Abnormal urinary nitrogen compound level

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


Fractured manual digit bone

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


Right ventricular failure

description: Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.


Diffuse cerebral calcification

description: Generalized deposition of calcium salts within the cerebrum.


name: Focal EEG discharges with secondary generalization

description: Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.


Telangiectases of the cheeks

description: Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.


schizencephaly

description: Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.


Myocardial eosinophilic infiltration

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


Reduced social smiling

description: Reduced production of smiles during engagement with an interactive parent, caregiver, or peer.


name: Positive 2,4-dinitrophenylhydrazine urine test

description: Positive (abnormal) result of the 2,4-dinitrophenylhydrazine urine test, which indicates the presence of alpha-ketoacids in the urine.


Triphalangeal hallux

description: A hallux (big toe) with three phalanges in a single, proximo-distal axis.


Syntelencephaly

description: Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions.


Renal hypoplasia/aplasia

description: Absence or underdevelopment of the kidney.


pineocytoma

description: Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.


name: Elevated circulating long chain fatty acid concentration

description: Increased concentration of long-chain fatty acids in the blood circulation.


name: Bullet-shaped distal phalanx of the 5th toe

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


Renal arteriole medial hypertrophy

description: Increased thickness of middle layer of the arterioles of the kidney.


name: Fragmentation of the epiphysis of the middle phalanx of the 3rd toe


name: Abnormality of peripheral nerve conduction

description: An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).


Abnormal temper tantrums

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


anhidrosis

description: Lack of sweating or the ability to sweat when provoked by the appropriate stimulus.


Indifference to social norms

description: Failure to follow social norms (shared standards of acceptable behavior) even though one has awareness of these norms and the ability to follow them. This is characterized by an indifference to the consequences of breaking social norms.


Short attention span

description: Reduced attention span characterized by distractibility and impulsivity.


melanocytic nevus

description: A neoplasm composed of melanocytes that usually appears as a dark spot on the skin.


Interrupted aortic arch type A

description: Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus.


congenital genu recurvatum

description: An abnormal alignment of the knee backwards that is due to a deformity in the knee joint.


craniosynostosis

description: Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.


Genital neoplasm

description: A tumor (abnormal growth of tissue) of the genital system.


Short term memory impairment

description: A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds).


Scrotal hyperpigmentation

description: Increased pigmentation (skin color) of the scrotum.


Psychic epileptic aura

description: Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events.


name: isolated growth hormone deficiency type IA

description: An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3.


Monotonic speech

description: A speech pattern characterized by an abnormal lack of tone in the voice.


Episodic quadriplegia

description: Intermittent episodes of paralysis of all four limbs.


Freckled genitalia

description: One or more brown punctate macules on the skin of the genitalia.


name: Arcuate artery intima/media arteriosclerosis

description: Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina.


name: Grade IV preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension.


name: Hypertension resistant to conventional therapy

description: Resistant hypertension is defined as above-goal elevated blood pressure in a patient despite the concurrent use of 3 antihypertensive drug classes, commonly including a long-acting calcium channel blocker, a blocker of the renin-angiotensin system (angiotensin-converting enzyme inhibitor or angiotensin receptor blocker), and a diuretic.


name: Osteolytic defects of the proximal phalanx of the hallux


Hypotriglyceridemia

description: An decrease in the level of triglycerides in the blood.


focal hand dystonia

description: A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.


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

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