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

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


Focal aware motor seizure

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

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


Abnormality of urine homeostasis

description: An abnormality of the composition of urine or the levels of its components.


Elevated urinary coproporphyrin level

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


physical urticaria

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

description: A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously.


Motor regression

description: Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones.


name: Focal impaired awareness verbal automatism seizure

description: A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset.


Hypoplasia of the brainstem

description: Underdevelopment of the brainstem.


Abnormal doll's eye reflex

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


transient myeloproliferative syndrome

description: A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission.


Intratubular light-chain casts

description: The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules.


Thoracic aorta calcification

description: An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta.


Lip telangiectasia

description: Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.


Gallbladder biliary sludging

description: Presence of biliary sludge (a mixture of particulate solids that have precipitated from bile) in the gallbladder. Such sediment consists of cholesterol crystals, calcium bilirubinate pigment, and other calcium salts. Sludge is usually detected on transabdominal ultrasonography.


pulmonary agenesis

description: An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities.


Edematous chorionic villi

description: Swelling of the chorionic villi owing to fluid accumulation.


Primary amenorrhea

description: Abnormally late or absent menarche in a female with normal secondary sexual characteristics.


Choreoathetosis

description: Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).


name: Glomerular endocapillary neutrophil hypercellularity

description: Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.


Increased CSF urate concentration

description: Increased concentration of urate in the cerebrospinal fluid.


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

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


acute biphenotypic leukemia

description: An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)


spondylolysis

description: A defect in the pars interarticularis of a vertebral bone.


Sleep-related eating disorder

description: Eating while asleep can be problematic, as it may involve potentially harmful behaviors like overeating or consuming raw meat.


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


name: Entrapment neuropathy of suprascapular nerve

description: An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region.


Motor neuron atrophy

description: Wasting involving the motor neuron.


Short thumb

description: Hypoplasia (congenital reduction in size) of the thumb.


name: Sclerosis of the distal phalanx of the hallux


name: Focal impaired awareness autonomic seizure with urge to urinate/defecate

description: A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure.


Reduced urinary iodine level

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


Asterixis

description: A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints.


aortic valve prolapse

description: The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation.


Hyperparakeratosis

description: Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum.


Trachyonychia

description: Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix.


Aplasia of the phalanges of the toes

description: Absence of a digit or of one or more phalanges of a toe.


Vesicoallantoic abdominal wall defect

description: An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst.


Small intestinal polyp

description: A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.


Elongated superior cerebellar peduncle

description: Increased length of the superior cerebellar peduncle.


Single raphe bicuspid aortic valve

description: A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size.


Hairshafts with longitudinal grooves

description: Long narrow depressions running lengthwise in hairshafts. This feature can be appreciated by scanning electron microsopy.


Decreased intracranial pressure

description: A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.


Abnormal mitral valve physiology

description: Any functional anomaly of the mitral valve.


Palmoplantar scaling skin

description: Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.


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

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


Parietal meningocele

description: A herniation of meninges through a congenital bone defect in the skull in the parietal region.


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


Abnormality of the urethra

description: An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.


name: Focal impaired awareness autonomic seizure with lacrimation

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


Holosystolic murmur

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


nevus, epidermal

description: A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed.


name: Abnormal atrioventricular valve morphology

description: An abnormality of an atrioventricular valve.


visual agnosia

description: An inability to recognize or interpret objects by sight.


Knee clonus

description: Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes.


name: beta-aminoisobutyric acid, urinary excretion of

description: An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine.


name: Medullary peritubular capillary lumen organized thrombi

description: Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney.


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


Gallbladder dyskinesia

description: Reduced motility of the gallbladder with reduced emptying fraction.


supravalvular aortic stenosis

description: SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.


Generalized arterial tortuosity

description: Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.


Elbow clonus

description: Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint.


name: Tetralogy of Fallot with absent pulmonary valve

description: Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue.


Ureterovesical junction obstruction

description: Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle.


Absent P wave

description: The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present.


Feeding difficulties in infancy

description: Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.


Abnormality of the nose

description: An abnormality of the nose.


Areflexia of lower limbs

description: Inability to elicit tendon reflexes in the lower limbs.


Class I obesity

description: Obesity with a body mass index of 30 to 34.9 kg per square meter.


Abnormal capillary physiology

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


Peripheral axonal degeneration

description: Progressive deterioration of peripheral axons.


Fractured elbow

description: A partial or complete breakage of the elbow.


name: Osteolytic defects of the phalanges of the hallux


Decreased skin turgor

description: Reduced skin turgor means reduced elastic recoil of the skin to its normal contour after being pinched in a fold.


Abnormal skin morphology of the palm

description: An abnormality of the skin of the palm, that is, the skin of the front of the hand.


Dilated third ventricle

description: An increase in size of the third ventricle.


agnosia

description: A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes.


Abnormal change in social behavior

description: An alternation in the habits and emotional tendencies of an individual with a change in behavior that is typically noticed by family members or peers.


Spontaneous pneumothorax

description: Pneumothorax occurring without traumatic injury to the chest or lung.


name: Shovel-shaped maxillary central incisors

description: A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces.


name: Decreased number of large peripheral myelinated nerve fibers

description: A reduced number of large myelinated nerve fibers.


Unsteady gait

description: A shaky or wobbly manner of walking.


Absence of intrinsic factor

description: Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12.


Genital tract atresia

description: Congenital occlusion of a tube in the genital tract.


Lumbar hypertrichosis

description: Excessive, increased hair growth located in the lumbar region.


exfoliative dermatitis

description: The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)


Abnormal renal morphology

description: Any structural anomaly of the kidney.


cerebellar ataxia

description: A neurological syndrome characterized by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways.


IgG4-related retroperitoneal fibrosis

description: Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle.


Abnormal gastric mucosa morphology

description: An abnormality of the gastric mucous membrane.


Lateral spinal meningocele

description: Protrusion of the arachnoid and dura through spinal foramina.


Abnormal Bowman space morphology

description: Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron.


palmar fibromatosis

description: A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males.


Extreme oligozoospermia

description: A type of oligozoospermia characterized by a total number of more than zero but less than 2 million sperm in the ejaculate or a concentration of more than zero but less than one million sperm per milliliter.


Short N2 sleep

description: Disruptions in the second stage of NREM sleep.


essential tremor

description: A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)


name: Irregular epiphysis of the middle phalanx of the 2nd toe


Sarcomatoid carcinoma of the tongue

description: Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation.


name: Grade I preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove.


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

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


Jamais vu aura

description: A subjective feeling that an experience which has occurred before is being experienced for the first time.


name: Decreased circulating 18-hydroxycortisone level

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


Abnormal brain lactate level by MRS

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


Pes cavus

description: An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).


Xanthomas of the palmar creases

description: The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.


Right ventricular cardiomyopathy

description: Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.


name: Superficial blush-like subcutaneous fatty lesions

description: Multiple, oblong, fatty lesions in the superficial subcutaneous fatty tissue. They are mostly under 2 cm in long axis diameter. They demonstrate nodular (blush-like) increased fluid signal at unenhanced MRI and are markedly hyperechoic at ultrasound.


hemidystonia

description: A multifocal dystonia that involves the arm and leg on the same side of the body.


Irritability

description: A proneness to anger, i.e., a tendency to become easily bothered or annoyed.


Abnormal pulmonary artery morphology

description: An abnormality of the structure of the pulmonary artery.


description: Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact.


Metatarsus valgus

description: A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.


Hippocampal sclerosis

description: Hippocampal sclerosis is a neuropathologic finding characterized by neuronal loss and gliosis in the CA-1 and subiculum of the hippocampus.


name: Dysplasia of the superior cerebellar vermis

description: A type of cerebellar dysplasia that affects the upper part of the cerebellar vermis.


Congenital panfollicular nevus

description: A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation.


Renal calcium wasting

description: High urine calcium in the presence of hypocalcemia.


description: Complete duplication of the middle phalanx of the 5th toe.


Abnormal perifollicular morphology

description: Any structural anomaly in the areas surrounding the hair follicles.


name: Abnormal renal arteriole endothelium morphology

description: Any structural anomaly of the lining (endothelium) of the arterioles of the kidney.


Median cleft upper lip

description: A type of cleft lip presenting as a midline (median) gap in the upper lip.


Barrel-shaped tooth

description: A tooth crown with convex mesial and distal surfaces.


Dark yellow urine

description: An abnormal dark-yellow color of the urine.


name: Vaginal passage of hydatidiform mole tissue

description: Passage from the vagina of hyatidiform tissue, appearing as clusters of vesicles (similar to small grapes) developed from the transformation of chorionic villi. This is a manifestation of a molar pregnancy (hyatidiform mole).


Fused labia majora

description: The outer labia are sealed together.


Decreased dermal collagen

description: Abnormally reduced amount of collagen fibers in the dermis.


name: Abnormal appendicular skeleton morphology

description: An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.


Hypovolemic shock

description: A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures.


Dilatation of the renal pelvis

description: The presence of dilatation of the renal pelvis.


Animal protein allergy

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


description: The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.


name: Focal aware cognitive seizure with hallucination

description: A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure.


Abnormality of connective tissue

description: Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).


Green urine

description: An abnormal green color of urine.


EEG with parietal sharp waves

description: EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec.


Secondary hyperaldosteronism

description: A form of hyperaldosteronism caused by abnormally increased renin levels.


Left anterior fascicular block

description: Conduction block in the anterior division of the left bundle branch of the bundle of His.


Status epilepticus with ictal paresis

description: A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures.


description: X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.


Coarse hair

description: Hair shafts are rough in texture.


Chronic fatigue

description: Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.


description: Noncompaction cardiomyopathy that affects both ventricles.


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


Focal aware sensory seizure

description: A focal sensory seizure during which awareness is retained throughout the seizure.


Dysgyria

description: An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.


Reduced eye contact

description: A reduced frequency or duration of eye contact.


neuroepithelial neoplasm

description: A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors.


name: Abnormal CSF aromatic amino acid concentration

description: Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid.


description: Partial duplication of the middle phalanx of the 5th toe.


livedo reticularis

description: A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming.


normal pressure hydrocephalus

description: A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)


Talipes valgus

description: Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.


name: Progressive conductive hearing impairment

description: A progressive type of conductive deafness.


Abnormal red nucleus morphology

description: Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement.


name: Abnormality of the peripheral nervous system

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


name: Steroid-sensitive nephrotic syndrome with frequent relapses

description: A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period.


complex partial epilepsy

description: A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and automatism may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)


Hyperplastic labia majora

description: Overgrowth of the outer labia.


endocardial fibroelastosis

description: Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.


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


Intellectual disability, mild

description: Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.


Abnormal urinary hypoxanthine level

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


Isolated systolic hypertension

description: Elevated systolic blood pressure without an elevated blood pressure.


Recurrent meningitis

description: An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.


Short-segment aganglionic megacolon

description: A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid.


Secundum atrial septal defect

description: A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.


Recurrent aspiration pneumonia

description: Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.


vibratory urticaria

description: This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.


Loss of ambulation

description: Inability to walk in a person who previous had the ability to walk.


Reversible renal failure

description: Acute renal failure with resolution of manifestations.


Abnormal lymphocyte morphology

description: An abnormality of lymphocytes.


premature menopause

description: Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive.


Fetal posterior fossa hemorrhage

description: A type of fetal intracranial hemorrhage that occurs in the posterior cranial fossa, which is the part of the cranial cavity that is located between the foramen magnum and tentorium cerebelli and contains the brainstem and cerebellum.


name: Focal autonomic seizure with piloerection

description: A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature.


fasciitis

description: Inflammation process in fascia.


name: High-frequency sensorineural hearing impairment

description: A form of sensorineural hearing impairment that affects primarily the higher frequencies.


bifid uvula

description: Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.


Spastic dysarthria

description: A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.


Premature graying of hair

description: Development of gray hair at a younger than normal age.


Ectopic testis

description: Localization of the testis in an anatomic location other than the scrotum.


Clonus

description: A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.


Bradykinesia

description: Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).


uterine anomalies

description: An abnormality of the uterus.


Cervical neoplasm

description: A tumor (abnormal growth of tissue) of the uterine cervix.


transient global amnesia

description: A condition characterized by sudden, temporary, usually short-lived memory loss, not associated with a neurologic disorder. Affected individuals lose memory function for recent events and have a decreased ability to retain new information. It is usually a solitary event.


name: Dilatation of superior mesenteric artery

description: Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery .


name: Focal aware sensory seizure with visual features

description: A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis.


Generalized-onset seizure

description: A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.


name: Low alkaline phosphatase of hepatic origin

description: An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood.


Anterior hypopituitarism

description: A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.


Unilateral renal hypoplasia

description: One sided hypoplasia of the kidney.


Streak ovary

description: A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.


Intracranial hemorrhage

description: Hemorrhage occurring within the skull.


Short N1 sleep

description: Disruptions in the first stage of NREM sleep can occur.


Speech apraxia

description: A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.


Facial capillary hemangioma

description: Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face.


Increased blood pressure

description: Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension.


Paroxysmal atrial tachycardia

description: A disorder characterized by an electrocardiographic finding of episodic atrial tachycardia with abrupt onset and termination.


Vaginal clear cell adenocarcinoma

description: A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm.


name: Abnormal CSF homovanillic acid concentration

description: Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.


congenital factor XI deficiency

description: Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.


Calcified ovarian cyst

description: A cyst of the ovary that exhibits deposition of calcium salts.


Rem parasomnia

description: Parasomnia occurs during REM sleep.


Dilated superficial abdominal veins

description: Increase in diameter of the veins located underneath the skin of the abdomen.


Ectopic liver

description: Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter.


Medial/intimal arcuate venosclerosis

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


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


cor pulmonale

description: Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism.


Bilateral vertebral artery hypoplasia

description: Underdevelopment of the vertebral artery on both sides.


Hypothalamic arteriovenous malformation

description: An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus.


chronic leukemia

description: A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.


Purple urine

description: An abnormal purple color of the urine.


Psychotic episodes

description: Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder.


Visual hallucination

description: Visual perception in the absence of a visual stimulus.


Snoring

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


homocystinuria

description: An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.


Intralobular interstitial thickening

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


ichthyosis

description: Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies.


name: Pulmonary arterial hypertension with lack of acute response to NO challenge

description: A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm).


name: Increased circulating beta-carotene concentration

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


Declarative memory loss

description: Impaired ability to remember facts and events.


Gustatory sensory seeking

description: Pursuit of a particular taste that is abnormal in intensity and/or frequency.


sialadenitis

description: Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common.


name: Increased CSF homocarnosine concentration

description: Abnormally increased levels of homocarnosine in cerebrospinal fluid.


Pendulous urethral stricture

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


Increased CSF interferon alpha

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


renal tubule disorder

description: A disease that involves the renal tubule.


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


name: Asymmetrical insertion of the midpiece into the head

description: Insertion of the neck and midpiece into the head of a spermatozoon on an axis that diverges from the midline axis of the spermatozoon head. This term applies if the proportion of spermatozoa with this defect is above the upper limit of normal.


description: Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava.


Chronic constipation

description: Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.


Abnormality of infra-orbital nerve

description: A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal.


name: Mottled pigmentation of photoexposed areas


name: Focal hyperintensity of cerebral white matter on MRI

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


Absent skin pigmentation

description: Lack of skin pigmentation (coloring).


intermittent vascular claudication

description: A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate.


Cock-walk gait

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


Stooped posture

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


Dermal multinucleated giant cells

description: Presence of giant cells in the dermis. Giant cells are formed by fusion of various cells such as macrophage, epithelioid cells, monocytes, etc., These are multi-nucleated, large in size, and generally present at the site of chronic inflammation and other granulomatous conditions.


Specific anosmia

description: Anosmia for one particular odor.


Ileal adenocarcinoma

description: A malignant epithelial tumor with a glandular organization that originates in the ileum.


Bradyphrenia

description: Abnormal slowness of thought processes.


Abdominal ectopia cordis

description: Displacement of the heart outside the thoracic cavity and into the abdomen.


Absent right superior vena cava

description: Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium.


name: Transitional atrioventricular canal defect

description: A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices.


name: Decreased circulating chenodeoxycholic acid concentration

description: A reduced concentration of chenodeoxycholic acid in the blood circulation.


Recurrent deep vein thrombosis

description: Repeated episodes of the formation of a blot clot in a deep vein.


name: Patchy sclerosis of the middle phalanx of the 3rd toe


Elevated CSF saccharopine concentration

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


name: Cortical radial artery intimal/medial amyloidosis

description: Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy


Positive carpal Tinel sign

description: The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve.


Immediate Echolalia

description: Immediate repetition of another person's speech.


Paresthesia

description: Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.


Decreased CSF serine concentration

description: Abnormally decreased levels of serine in cerebrospinal fluid.


Medial calcification of large arteries

description: Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.


name: Abnormal four chamber view of the fetal heart

description: The four-chamber (4Ch) view of the fetal heart is the most widely used screening examination for the detection of structural cardiac abnormalities during routine fetal ultrasonography. In the healthy normal fetus, the apical 4Ch view demonstrates four well-developed chambers, a concordant atrioventricular (AV) connection, unobstructed AV valves (mitral and tricuspid valves), the foramen ovale flap opening into left atrium (LA), and an intact interventricular septum. Additionally, the pulmonary venous opening can be visualized at the LA wall. Any structural deviations from normal anatomy may lead to congenital heart disease that can be determined by the 4Ch view of the fetal heart's ultrasound imaging.


Cerebral cortical atrophy

description: Atrophy of the cortex of the cerebrum.


Abnormal subarachnoid space morphology

description: Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid.


hereditary fructose intolerance

description: Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.


Duplication of the 1st metatarsal

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


Sleep paralysis

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


Late onset atopic dermatitis

description: A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis.


Dust mite allergy

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


volvulus of midgut

description: A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction.


Elevated systolic blood pressure

description: Abnormal increase in systolic blood pressure.


name: Complete left sided absence of pericardium

description: A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart.


name: Increased urinary neutrophil gelatinase-associated lipocalin

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


name: Distal sensory impairment of all modalities

description: Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities.


folliculitis

description: Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds.


Perihepatic enhancement

description: Increased signal (contrast enhancement) surrounding the liver observed on computer tomography or magnetic resonance imaging following administration of contrast agents.


Trophic changes related to pain

description: Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails.


EEG with polyspike wave complexes

description: The presence of complexes of repetitive spikes and waves in EEG.


Skin detachment

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


Camurati-Engelmann disease

description: Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.


Tubulointerstitial viral infiltration

description: Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry.


Abnormality of the knee

description: An abnormality of the knee joint or surrounding structures.


Mediastinal lymphadenopathy

description: Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.


name: EEG with photoparoxysmal response grade III

description: Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation.


Thickened elastic fibers in the dermis

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


name: Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis

description: A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


name: Complete duplication of the proximal phalanx of the 2nd toe

description: Complete duplication of proximal phalanx of second toe.


name: epidermolytic palmoplantar keratoderma, 1

description: A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas.


Abnormal delivery

description: An abnormality of the birth process.


digestive system neoplasm

description: A neoplasm (disease) that involves the digestive system.


Cryptozoospermia

description: A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet.


Hyperconvex nail

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


Overriding aorta

description: An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle.


name: Dermatological manifestations of systemic disorders


Patchy sclerosis of 3rd toe phalanx

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


Glomerular capillary microaneurysm

description: Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis.


name: Fatigable weakness of swallowing muscles

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


3-hydroxyisovaleric aciduria

description: Concentration of 3-hydroxyisovaleric acid in the urine above the normal range.


Renal cortical cysts

description: Cysts of the cortex of the kidney.


Glomerular capillary congestion

description: Global distention of glomerular capillaries with intraluminal intact red blood cells.


Gastric diverticulum

description: An outpouching of the gastric wall.


name: Focal impaired awareness sensory seizure with hot-cold sensations

description: A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure.


Global developmental delay

description: A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.


Abnormal neural tube morphology

description: Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord).


name: Decreased middle cerebral artery pulsatility index

description: Abnormally reduced blood flow pulsatility in in the middle cerebral artery (MCA). The pulsatility index (PI) is calculated using the following equation PI = (peak systolic velocity-end-diastolic velocity)/mean velocity.


Episodic hyperhidrosis

description: Intermittent episodes of abnormally increased perspiration.


Atrophic muscularis propria

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


Ovarian papillary adenocarcinoma

description: The presence of a papillary adenocarcinoma of the ovary.


name: Osteolytic defects of the distal phalanges of the toes


name: Focal aware undressing automatism seizure

description: A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout.


name: Reduced epidermal keratin 14 protein expression

description: Amount of keratin 14 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


name: Elevated CSF N-carbamyl-beta-alanine concentration

description: The concentration of N-carbamyl-beta-alanine in the cerebrospinal fluid is above the upper limit of normal.


Widened subarachnoid space

description: An increase in size of the anatomic space between the arachnoid membrane and pia mater.


Self hugging

description: Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting.


Granular casts

description: A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.


Epidermal acanthosis

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


EEG with focal spikes

description: EEG with focal sharp transient waves of a duration less than 80 msec.


name: Abnormality of the middle phalanges of the toes


Agenesis of central incisor

description: Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor.


facial hemiatrophy

description: Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.


Hypnopompic hallucination

description: Brief hallucinations that occur as you wake up in the morning, in a state that falls somewhere between dreaming and being fully awake.


Arcuate vein medial atrophy

description: Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney.


name: Fetal intraventricular hemorrhage with ventriculomegaly

description: A type of fetal intraventricular hemorrhage (IVH) characterized by spillover to ventricles with flooding of 50% or more of one or both lateral ventricles accrued accompanying ventriculomegaly, but with no apparent brain parenchymal injury. This type of IVH may be defined as a diameter exceeding 15 mm in the transverse diameter of the lateral ventricular atrium as visualiuzed by prenatal sonography.


hyperostosis cranialis interna

description: Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull.


description: Abnormality of the eleventh cranial nerve.


Renal cortical microcysts

description: Cysts of microscopic size confined to the cortex of the kidney.


Reduced impulse control

description: Reduced ability to control, or a failure to resist a temptation, urge, or impulse.


Increased urinary bile acid level

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


name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

description: An autosomal recessive condition that is caused by mutation(s) in the MOCS1 gene, encoding molybdenum cofactor biosynthesis protein 1. it is characterized by poor feeding, encephalopathy, seizures and dysmorphic facial features.


name: Contractures of the metatarsophalangeal joint of the hallux

description: The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively.


name: Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis

description: A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Bilious emesis

description: Vomiting whereby the vomit has the color of bile, yellowish-green.


parietal foramina

description: Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.


Abnormal cerebral morphology

description: Any structural abnormality of the telencephalon, which is also known as the cerebrum.


Bullet-shaped 3rd toe phalanx

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


Elevated urinary cytidine

description: Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond.


name: Decreased esterified to free carnitine ratio

description: A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.


Left ventricular diastolic dysfunction

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


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


Thin-cap fibroatheroma

description: Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring less than 65 micrometers and typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis.


Tactile agnosia

description: The inability to recognize objects by touch is called tactile agnosia.


Expressive aphasia

description: Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.


Increased number of lymph nodes

description: An abnormally elevated number of lymph nodes in an anatomical region.


name: Complete duplication of the distal phalanx of the 3rd toe

description: Complete duplication of distal phalanx of third toe.


Tortuous cerebral arteries

description: Excessive bending, twisting, and winding of a cerebral artery.


microlissencephaly

description: Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.


Neoplasm of the male external genitalia

description: A tumor (abnormal growth of tissue) of the male external genitalia.


Short proximal phalanx of the 5th toe

description: Developmental hypoplasia of the proximal phalanx of fifth toe.


PR segment elevation

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


Abnormal psychotic pattern

description: Any abnormal pattern of psychotic experiences, where an individual has significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality.


Misophonia

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


Male sexual dysfunction

description: A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity


Decreased urine output

description: A decreased rate of urine production.


Uninodular goiter

description: Enlargement of the thyroid gland related to a singular nodule in the thyroid gland.


name: Bullet-shaped middle phalanx of the 4th toe

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


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

description: The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively.


Abnormal incisor morphology

description: An abnormality of morphology of the incisor tooth.


lissencephaly spectrum disorders

description: The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis.


name: Increased renal tubular phosphate reabsorption


name: Peripheral nerve polyglucosan inclusion bodies

description: Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in peripheral nerve fibers.


name: Abnormal peripheral nervous system synaptic transmission

description: An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.


name: Increased VLDL cholesterol concentration

description: An increase in the amount of very-low-density lipoprotein cholesterol in the blood.


Pulmonary artery aneurysm

description: An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.


Anal margin melanoma

description: A melanoma that originates in the anal margin.


name: Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole

description: A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure.


Abnormal intrarenal artery morphology

description: An anomalous structure of an artery located in the kidney.


name: EEG with occipital epileptiform discharges

description: Focal epileptiform EEG discharges recorded in the occipital region.


name: Focal aware autonomic seizure with pupillary dilation/constriction

description: A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure.


Rapp-Hodgkin syndrome

description: A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate.


name: Atrophy/Degeneration affecting the central nervous system


Hockey-stick palmar crease

description: An abnormality of the upper palmar crease whereby the crease widens and ends between the second and third fingers and is said to resemble a hockey stick.


Clostridium difficile enteritis

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


Placenta percreta

description: Placenta percreta is a rare form of morbidly adherent placenta with penetration through the myometrium reaching serosa and even adjacent pelvic organs.


Abnormal fourth ventricle morphology

description: An abnormality of the fourth ventricle.


Stereotypic whole-body movements

description: Abnormal movements of the whole body.


Opportunistic bacterial infection

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


name: Impaired renal tubular reabsorption of low molecular weight protein

description: Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption.


Deficit in grammar

description: Deficit in grammar, including syntax and morphology.


name: Decreased CSF homovanillic acid concentration

description: Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.


Sacral dimple

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


nephrogenic diabetes insipidus

description: Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 liters in children.


Enlarged lunula

description: Abnormal enlargement of the visible portion of the distal nail matrix that extends beyond the proximal nail fold, which is refered to as the lunula.


Wide penis

description: Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age.


Testicular mass

description: An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer.


name: Increased urinary renal tubular epithelial cell count

description: An increased number of renal tubular epithelial cells per high-power field in urinanalysis.


Pituitary gland cyst

description: A fluid-filled sacs that develop on or near the pituitary gland.


Multiple pancreatic beta-cell adenomas

description: The presence of multiple pancreatic islet cell adenomas.


tumor of uterus

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


Ash-leaf spot

description: A hypopigmented spot in the shape of a leaf from the mountain ash tree.


Sparse body hair

description: Sparseness of the body hair.


name: Renal arteriole endoarterial hypercellularity

description: Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney.


double outlet right ventricle

description: Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.


Dilatation of mesenteric artery

description: Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery .


Abnormal QT interval

description: Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).


name: Elevated CSF aspartylglucosamine concentration

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


name: Mixed hypo- and hyperpigmentation of the skin


Melanocytic nevus

description: A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.


soft tissue sarcoma

description: A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.


Abnormality of the musculature

description: Abnormality originating in one or more muscles, i.e., of the set of muscles of body.


Fractured scapula

description: A partial or complete breakage of the scapula.


Toe deformity

description: Abnormal positioning of toe phalanges. Deformities of the lesser toes often occur gradually, though they can be brought on by trauma. The main adult sagittal plane deformities consist of claw toes, hammer toes and mallet toes. Axial plane deformities include crossover toes.


name: Abnormal circulating metabolite concentration

description: An abnormal level of an analyte measured in the blood.


Leukoencephalopathy

description: This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.


Pontine tegmental cap

description: An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle.


Small nail

description: A nail that is diminished in length and width, i.e., underdeveloped nail.


Ganglioneuromatosis

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


name: Triangular shaped phalanges of the hallux


aortic valve atresia

description: A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure.


Unilateral renal dysplasia

description: A unilateral form of developmental dysplasia of the kidney.


Myoclonic status epilepticus

description: A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography.


Periocular capillary hemangioma

description: A capillary hemangioma surrounding the eyeball but within the orbit.


name: Decreased phytanic acid:pristanic acid ratio

description: A reduction below the normal ratio of blood phytanic acid concentration to pristanic acid concentration.


hereditary myoglobinuria

description: The presence of myoglobin in the urine.


Acholic stools

description: Clay colored stools lacking bile pigment.


Aplasia/Hypoplasia of the ovary

description: Aplasia or developmental hypoplasia of the ovary.


spina bifida

description: A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae.


Alpha-EEG

description: EEG dominated by diffuse alpha-waves (8-13Hz).


thyroid gland disorder

description: A disease involving the thyroid gland.


Abnormal systemic blood pressure

description: A chronic deviation from normal pressure in the systemic arterial system.


Incisional hernia

description: An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.


Cutaneous horn

description: A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin.


Abnormal nervous system physiology

description: A functional anomaly of the nervous system.


name: Glomerular subepithelial immune-complex deposits

description: A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


name: Abnormal brain positron emission tomography

description: A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain.


arteritis

description: An inflammatory process affecting an artery.


esthesioneuroblastoma

description: A rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases.


Reduced production of gestures

description: Diminished use of typical non-verbal conversational gestures such as shaking the head to indicate no or nodding the head to indicate yes.


Keratan sulfate excretion in urine

description: An increased concentration of keratan sulfate in the urine.


Increased CSF lysine concentration

description: Abnormally increased levels of lysine in cerebrospinal fluid.


Coronary artery sandwich anomaly

description: Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels,


High serum calcitriol

description: An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.


Abnormal leukocyte physiology

description: A functional abnormality of a white blood cell.


heart sarcoma

description: A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas.


leiomyosarcoma

description: An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas.


Transient hearing impairment

description: Hearing loss that occurs acutely and resolves completely.


name: Moderate sensorineural hearing impairment

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


Pretibial dimple

description: A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lengthen as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg.


Periarticular subcutaneous nodules

description: Subcutaneous nodules that are located in the vicinity of joints.


cryptorchidism

description: The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life.


epignathus

description: Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.


tertiary hyperparathyroidism

description: An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism.


Sparse pubic hair

description: Reduced number or density of pubic hair.


name: subcutaneous panniculitis-like T-cell lymphoma

description: Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue.


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

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


name: Agenesis of primary mandibular lateral incisor


name: Abnormality of the epiphysis of the 1st metatarsal

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


name: Deep dermal perivascular inflammatory infiltrate

description: Numerous lymphocytes surrounding blood vessels in the deep part of the dermis.


Past medical history

description: In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc.


pineal parenchymal cell neoplasm

description: A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.)


omphalocele

description: Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.


Ventricular septal hypertrophy

description: The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.


Sleep drunkeness

description: Sleep drunkenness refers to the prolonged and pronounced difficulty with awakening from nocturnal sleep and daytime naps. This symptom should be distinguished from the milder and physiologic state of sleep inertia seen even in healthy controls .


Reduced social insight

description: A lack of awareness of social rules in multiple social settings, which are simple or intuitive to others in the same social setting.


Retarded ejaculation

description: Difficulty of a male in achieving orgasm.


Elevated CSF proline concentration

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


Thyroidization-type tubular atrophy

description: A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts.


Acellular urinary casts

description: A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells.


Tubular luminal dilatation

description: Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen.


Persistent repetition of sounds

description: Repetition of sounds with no meaning.


Short metatarsal

description: Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.


Abnormal vena cava physiology

description: An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.


name: Abnormal fetal cardiovascular morphology

description: A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.


name: Aplasia/Hypoplasia of the cerebral white matter

description: Absence or underdevelopment of the cerebral white matter.


Increased circulating oleate level

description: An abnormally high concentration of oleic acid (oleate) in the blood circulation.


Aorto-left ventricular tunnel

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


name: Increased circulating corticosterone level

description: An abnormally elevated concentration of corticosterone in the blood.


Pulmonary valve atresia

description: A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop.


name: Renal tubular epithelial cell cytoplasmic vacuolization

description: Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size.


Impaired oropharyngeal swallow response

description: Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.


name: EEG with generalized slow activity grade 2

description: Generalized slowing of EEG activity at frequencies between 4-7 Hz.


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

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


Hallux varus

description: Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.


Upper extremity hypokinesia

description: Abnormally diminished movement of the upper extremities. 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.


Hypoplasia of the primary teeth

description: Developmental hypoplasia of the primary teeth.


name: Aplasia/Hypoplasia of the middle phalanx of the 2nd toe


name: congenital hypothalamic hamartoma syndrome

description: Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic.


name: Impaired vibration sensation in the lower limbs

description: A decrease in the ability to perceive vibration in the legs.


name: Resistance to trivial environmental changes

description: Distress in response to minor changes in one's environmental expectations.


name: Anomalous origin of the circumflex artery from the right sinus of Valsalva

description: The circumflex coronary artery originates from the right aortic sinus of Valsalva.


Low back pain

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


Aplasia/Hypoplasia of the spleen

description: Absence or underdevelopment of the spleen.


Compression-fractured thoracic vertebra

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


name: Low urinary cyclic AMP response to PTH administration


Dilation of Virchow-Robin spaces

description: Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.


Livedo

description: A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels.


Abnormal hypothalamus physiology

description: An abnormal functionality of the hypothalamus.


name: Elevated circulating suberic acid concentration

description: An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane.


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

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


name: internal carotid arteries, hypoplasia of


pilomatrixoma

description: Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome.


name: Restricted or repetitive behaviors or interests

description: A broad range of compulsive behaviors are repeated, including simple motor stereotypies and tics, as well as more complex repetitive movements or compulsions.


Impaired distal tactile sensation

description: A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.


Abnormal urine chloride concentration

description: An abnormal concentration of chloride in the urine.


Abnormal astrocyte morphology

description: An abnormality of astrocytes.


Bilingual aphasia

description: The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages.


name: Contracture of the tarsometatarsal joint of the hallux

description: Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints.


Systolic heart murmur

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


EEG with frontal sharp slow waves

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


Peripheral neuroepithelioma

description: A neuroblastoma arising from the peripheral nervous system.


Dysgyria with normal cortical thickness

description: An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex.


description: Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric.


Ragged cuticle

description: The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle.


Shagreen patch

description: A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather.


Long toe

description: Toes that appear disproportionately long compared to the foot.


Cardiac amyloidosis

description: Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.


Non-secretory adrenocortical adenoma

description: An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones.


Orthokeratosis

description: Formation of an anuclear keratin layer


name: Altered location of the longitudinal column in the fibrous sheath

description: The fibrous sheath is a structure in the midpiece of the sperm flagellum surrounding the outer dense fibers. It comprises two longitudinal columns and tranverse ribs. In case of altered location of the longitudinal column in the fibrous sheath the symmetrical structure is lost, most commonly with the columns not being opposite to each other, which can be visualized by electron microscopy.


Vertebral artery tortuosity

description: Abnormal tortuous (i.e., twisted) form of the vertebral arteries.