Medial degeneration

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


cerebrospinal fluid rhinorrhea

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

description: Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)


Small intestinal dysmotility

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

description: Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.


Megaduodenum

description: Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum.


Abnormal pulse

description: An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart.


name: Sclerosis of the distal phalanx of the 5th toe


Addictive nitrous oxide use

description: Addiction to inhaled nitrous oxide gas (N2O) is a growing concern.


Neonatal bilateral clonic seizure

description: Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral.


Prominent S wave in lead I

description: Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram.


Forward slanting upper incisors

description: The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards.


name: Abnormal branching pattern of the aortic arch

description: A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries.


3-Methylglutaric aciduria

description: An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine.


name: Reduced lamina lucida anchoring filament density

description: Diminished amount of the anchoring filaments that normally bridge the lamina lucida and insert into the lamina densa in the cutaneous basement membrane zone.


name: Elevated 18-hydroxycorticosterone to aldosterone ratio

description: The relative concentration in the blood circulation of 18-hydroxycorticosterone compared to that of aldosterone is above the upper limit of normal.


ovarian neoplasm

description: A benign, borderline, or malignant neoplasm involving the ovary.


name: Abnormal urinary 1-methylhistidine concentration

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


name: Dentinogenesis imperfecta of primary and permanent teeth

description: Developmental dysplasia of dentin or both the primary dentition and the permanent dentition.


Hypoplasia of the tooth germ

description: Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth.


Proprioceptive hallucination

description: A type of hallucination that involves the perception of distorted or abnormal sensations related to one's body position or movement.


Pustular rash

description: A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils.


name: Abnormal circulating corticosterone level

description: An abnormality of the concentration of corticosterone in the blood.


Stasis dermatitis

description: Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus.


Atrial cardiomyopathy

description: Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations.


Parietal cortical atrophy

description: Atrophy of the parietal cortex.


mongolian spot

description: A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The color is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot.


name: Multifocal hyperintensity of cerebral white matter on MRI

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


circadian rhythm sleep disorder

description: A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV)


3-4 toe cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the toes 3 and 4.


Sensory ataxia

description: Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.


Perianal dermatitis

description: The presence of a rash (change of color and texture) of the perianal skin.


name: Abnormal urinary 3-methylhistidine level

description: Abnormal amount of 3-methylhistidine in the urine.


Profound global developmental delay

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


focal dystonia

description: A dystonia that is localized to a specific part of the body.


Collectionism

description: Excessive or pathological tendency to save and collect possessions.


progressive muscular atrophy

description: A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation.


Dicarboxylic aciduria

description: An increased concentration of dicarboxylic acid in the urine.


Lack of oocyte pronucleus formation

description: An abnormality of oocyte maturation characterized by the inability of oocytes to form pronuclei after in vitro fertilization procedures. Oocytes normally show two pronuclei 17 to 20 hours after in vitro insemination.


Rope sign

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


Schilder disease

description: Schilder's disease is a progressive demyelinating disorder of the central nervous system.


Mediastinal cystic lymphangioma

description: A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors.


Hypoproteinemia

description: A decreased concentration of protein in the blood.


Dysesthesia

description: Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds.


name: Abnormal circulating lipoprotein(a) concentration

description: The concentration of lipoprotein(a) in the blood circulation is outside the limits of normal.


name: Absent epiphysis of the distal phalanx of the hallux

description: Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux.


Binge drinking

description: A pattern of episodic heavy alcohol use characterized by the consumption of a high number of drinks per occasion.


Gallbladder mass

description: An abnormal lesion or swelling seen on gallbladder imaging.


lingual-facial-buccal dyskinesia

description: Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.


Pulmonary fat embolism

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


Small intestinal bacterial overgrowth

description: An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml.


name: Abnormality of the phalanges of the 4th toe


Psychomotor deterioration

description: Loss of previously present mental and motor abilities.


name: congenitally corrected transposition of the great arteries

description: Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations.


Bilateral vocal cord paralysis

description: A loss of the ability to move the vocal fold on both sides.


Delusional perception

description: A true perception, to which a patient attributes a false meaning, ranges from experiencing some vague meaning to clear, delusional observations, and expresses delusions of reference.


name: Focal T2 hyperintense basal ganglia lesion

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


name: Cortical 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 cortex of the kidney.


Nocturnal seizures

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


spermatogenic failure, Y-linked, 1

description: A decrease in the number of germ cells but all stages of sperm cell development are present.


Abnormal anus morphology

description: A structural anomaly of the anus.


Internal carotid artery dissection

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


name: Excessive skin wrinkling on dorsum of hands and fingers


Sclerosis of 2nd toe phalanx

description: An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Agonadism

description: Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females).


Presacral ganglioneuroma

description: A gangioleneuroma originating from sympathetic ganglion cells in the abdomen.


description: Sweating and flushing in the preauricular area in response to mastication or a salivary stimulus. Facial warmth, flushing, and sweating in the territory of the auriculotemporal nerve overlying the parotid gland, which may include the preauricular skin, the temporal skin, the scalp, and the temporomandibular joint region. Symptoms occur during meals, especially with spicy and sour foods. This feature is inferred to be a consequence of injury to the auriculotemporal nerve, a branch if the trigeminal nerve.


name: Abnormality of dorsoventral patterning of the limbs

description: An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs.


name: Bilateral superior vena cava with no bridging vein


name: Focal cognitive seizure with left-right confusion

description: A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation.


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


Perianal erythema

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


Enlarged pituitary gland

description: An abnormally increased size of the pituitary gland.


Abnormal cardiac output

description: A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs.


Decreased nerve conduction velocity

description: A reduction in the speed at which electrical signals propagate along the axon of a neuron.


name: Elevated circulating stearoylcarnitine concentration

description: Abnormally increased concentration of O-stearoylcarnitine in the blood circulation.


Podocyte cytoskeletal condensation

description: Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte.


Gastric duplication

description: Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach.


Muscular ventricular septal aneurysm

description: Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).


Abnormality of cervical plexus

description: Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck.


Cognitive epileptic aura

description: A purely subjective manifestation of an epileptic seizure pertaining to altered cognition.


name: Elevated circulating methylglutarylcarnitine concentration

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


name: Increased urinary squamous epithelial cell count

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


Macroscopic hematuria

description: Hematuria that is visible upon inspection of the urine.


Cerebellar hemorrhage

description: Hemorrhage into the parenchyma of the cerebellum.


Oocyte maturation arrest

description: Oocyte maturation arrest (OMA) can manifest as failed in vitro fetilization/intracytoplasmic sperm injection (IVF/ICSI) attempts using affected oocytes.


Increased glomerular filtration rate

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


name: Elevated circulating lyso-globotriaosylsphingosine concentration

description: An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation.


Pallor

description: Abnormally pale skin.


Pancolitis

description: Inflammation of the entire colon.


Short phalanx of the 3rd toe

description: Developmental hypoplasia of the phalanx of third toe.


Intermittent jaundice

description: Jaundice that is sometimes present, sometimes not.


Non-pruritic urticaria

description: Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus.


Ventricular bigeminy

description: An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio such that an ectopic ventricular beat follows each regular heartbeat.


Periportal emperipolesis

description: The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area.


pulmonary valve stenosis

description: The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.


carotid artery occlusion

description: A occlusion precerebral artery that involves the carotid artery segment.


Rete ridge elongation

description: Increased length of the rete rdiges of the epidermis.


Small cerebral cortex

description: Reduced size of the cerebral cortex.


nodular goiter

description: Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones.


Argyrophilic inclusion bodies

description: Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue.


Cerebellopontine angle arachnoid cyst

description: An arachnoid cyst located at the margin of the cerebellum and pons.


Aciduria

description: Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.


Tracheal papilloma

description: A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea.


name: Abnormality of anterior ethmoidal artery

description: An abnormality of an anterior ethmoidal artery.


name: Renal interstitial non-necrotizing granulomas

description: Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis.


Mania

description: A state of abnormally elevated or irritable mood, arousal, and/or energy levels.


name: Partial duplication of the distal phalanx of the 5th toe

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


name: Elevated circulating luteinizing hormone level

description: An elevated concentration of luteinizing hormone in the blood.


Enterocutaneous fistula

description: An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin.


Abnormal chylomicron concentration

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


Pollakisuria

description: Increased frequency of urination.


Abnormal vaginal physiology

description: Any anomaly of vagina function.


Abnormal small intestine morphology

description: A structural abnormality of the small intestine.


name: Glomerular hyaline subepithelial deposits

description: A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Ascending aortic dissection

description: A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.


Podocyte infolding

description: Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM.


name: Abnormal circulating beta-carotene concentration

description: Any deviation of the concentration of beta-carotene in the blood circulation from the normal range.


balanitis

description: An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge.


Exaggerated facial expression

description: A tendency to make facial expressions that are exaggerated and a failure to make subtle facial expressions in a social context when a subtle expression is more appropriate.


Sigmoid kidney

description: A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation.


name: Abnormal female external genitalia morphology

description: Any structural abnormality of the female external genitalia.


name: Myoclonic status epilepticus without coma

description: A type of myoclonic status epilepticus in the absence of coma.


name: Response to drugs acting on neuromuscular transmission

description: Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis.


Delayed thelarche

description: Later than normal development of the breasts.


Severe temper tantrums

description: Temper tantrums, which occur with more severe symptomatology compared to a temper tantrum that occurs as a part of normal developmental process.


disorder of methionine catabolism

description: An inherited metabolic disease that is has its basis in the disruption of methionine catabolic process.


Ascending aorta hypoplasia

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


Hypertrichotic hyperpigmented patch

description: A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth.


name: congenital partial pulmonary venous return anomaly

description: Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea.


Asymmetric bilateral cleft lip

description: Bilateral cleft lip in which the cleft lip on one side is complete (i.e. starts from the bottom of the upper lip and reaches the nasal cavity), and the one on the other side is incomplete (i.e. starts from the bottom of the upper lip but does not reach the nasal cavity) or microform (i.e. a notch, groove, or scar without noticeable rupture of the lip).


name: Abnormal CSF pyruvate family amino acid concentration

description: Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid.


name: Increased circulating gonadotropin level

description: Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.


Short distal phalanx of the 4th toe

description: Developmental hypoplasia of the distal phalanx of fourth toe.


description: Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner.


kidney cortex necrosis

description: Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity.


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


isolated partial vaginal agenesis

description: Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.


Aortic elastic fiber fragmentation

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


Coarctation of abdominal aorta

description: Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta.


Hypoglycorrhachia

description: Abnormally low glucose concentration in the cerebrospinal fluid.


Diaminoaciduria

description: An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine).


Arterial calcification

description: Pathological deposition of calcium salts in one or more arteries.


Keratinocyte vacuolization

description: Increased number of vacuoles (membrane-bound organelles that areempty of cytoplasm, lined with a membrane, and filled with fluid) in keratinocytes.


name: Fragmentation of the epiphyses of the toes


name: Agenesis of permanent maxillary central incisor

description: Agenesis of upper secondary incisor.


peritoneal mesothelioma

description: A benign or malignant mesothelial neoplasm that arises from the peritoneum.


pyridoxine deficiency anemia

description: Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia.


Vaginal mass

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


name: Tetralogy of Fallot with atrioventricular canal defect


Premature loss of teeth

description: Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.


Long segment coarctation of the aorta

description: Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta.


name: EEG with localized low amplitude activity

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


Arcuate vein intima/medial amyloidosis

description: Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.


Decreased helper T cell proportion

description: Reduced proportion of helper T cells relative to the total number of T cells.


Aortic dissection

description: Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.


Neurofibroma by anatomical location

description: Neurofibroma categorized according to the anatomical site of origin.


Moderate proteinuria

description: Moderately increased levels of protein in the urine (500-1000 mg per day in adults).


Sawtooth acanthosis

description: A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis.


Demyelinating motor neuropathy

description: Demyelination of peripheral motor nerves.


Shortened PR interval

description: Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long.


Placenta previa

description: Implantation of the placenta over or near the internal os of the cervix.


Achilles tendon calcification

description: Ectopic deposition of calcium salts in the Achilles tendon.


Impaired ability to shift attention

description: A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible.


name: Hypoplastic anterior limbs of the internal capsule

description: Underdevelopment of the frontal part (anterior crus or anterior limb) of the internal capsule.


name: Abnormal proximal convoluted tubule morphology

description: Any structural anomaly of the proximal convoluted tubule, which is the first tubular component of the nephron and arises as a continuation of the Bowman space from the tubular pole of the renal corpuscle. The proximal convoluted tubule is located within the renal cortex.


name: Symphalangism affecting the phalanges of the 4th toe


Abnormal vasa vasorum morphology

description: A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products.


name: Abnormal male external genitalia morphology

description: Any structural abnormality of male external genitalia.


Increased urinary sulfate

description: Elevated concentration of SO4(2-), i.e., sulfate, in the urine.


name: Renal interstitial plasma cell infiltration

description: Increased numbers of plasma cells in the interstitial tissues of the kidney.


thumb deformity

description: An abnormal structure of the first digit of the hand.


name: Symphalangism affecting the phalanges of the toes


cardiac rhabdomyoma

description: A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis.


Elevated CSF amyloid concentration

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


Increased urine deoxypyridinoline level

description: An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover.


Cerebral calcification

description: The presence of calcium deposition within the cerebrum.


Hypoplastic anterior commissure

description: Underdevelopment of the anterior commissure.


mixed neuronal-glial tumor

description: A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO)


Pruritis on breast

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


name: Arcuate intimal/medial granulomatous venulitis

description: A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins.


Abnormal cellular physiology

description: An abnormality in a cellular process.


name: Female external genitalia in individual with 46,XY karyotype

description: The presence of female external genitalia in a person with a male karyotype.


hydroxyprolinemia

description: An increased concentration of hydroxyproline in the blood.


Startle-induced seizure

description: Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus.


Renal duplication

description: A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.


Abnormal pyramidal tract morphology

description: Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.


Decreased scrotal rugation

description: Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum.


cerebral cortical dysplasia

description: Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay.


Septic embolism

description: Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system.


name: Obliterative abnormality of the renal glomerulus


Calcium carbonate crystalluria

description: The presence of calcium carbonate crystals in the urine.


High anterior hairline

description: Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.


name: Chronic hepatitis due to cryptosporidium infection

description: Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue.


Uterine arteriovenous malformation

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


EEG with intermittent slow activity

description: Non-continuous diffuse slowing of electroencephalographic patterns.


factor XIII, b subunit, deficiency of

description: Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.


Scaphoid abdomen

description: The anterior abdominal wall is sunken and presents a concave rather than a convex contour.


name: Abnormal branching pattern of left aortic arch

description: A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch).


Prolonged miniature endplate currents

description: An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.


Fractured cervical vertebra

description: A partial or complete breakage of the cervical vertebra.


name: Primary peritoneal serous papillary adenocarcinoma

description: A serous papillary adenocarcinoma that arises from the lining of the peritoneum


Abnormality of angular artery

description: An abnormality of the angular artery, the terminal branch of the facial artery.


Abnormality of pineal physiology

description: A functional abnormality of the pineal gland.


Facial midline hemangioma

description: Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face.


Low pulse pressure

description: Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).


name: Linear Hyperpigmentation along Blaschko's lines

description: Linear streaks and swirls of macular hyperpigmentation along the lines of Blaschko.


Fetal cerebellar vermis hemorrhage

description: A type of fetal intracranial hemorrhage that occurs in the vermis of the cerebellum.


White papule

description: A papule with white color.


Religious delusion

description: Delusions are characterized by increased conviction and pervasiveness, permeating the individual's entire experience to a greater extent.


Mesenteric venous thrombosis

description: A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine).


Perihilar glomerular hyalinosis

description: Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum.


lissencephaly due to LIS1 mutation

description: Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.


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


Motor seizure

description: A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.


Punctate palmar hyperkeratosis

description: Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands.


Ectopic thyroid

description: Mislocalised thyroid gland.


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


alpha-heavy chain disease

description: Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.


Abdominal pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.


Duplication of middle phalanx of toe

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


Clusters of axonal regeneration

description: Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration.


Joubert syndrome

description: Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.


Skin-picking

description: Repetitive and compulsive picking of skin which results in tissue damage.


aorta coarctation

description: Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps.


Pulmonary aterial intimal fibrosis

description: Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation.


name: Elevated urinary formiminoglutamic acid level

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


Weakness of facial musculature

description: Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).


Membranous ventricular septal aneurysm

description: Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).


tetra-amelia

description: Amelia of all four limbs.


ovarian disorder

description: A disease involving the ovary.


diffuse palmoplantar keratoderma

description: Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality.


name: Cortical radial artery medial/intimal granulomatous arteriitis

description: A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.


generalized dystonia

description: A type of dystonia that affects all or most of the body.


Iron accumulation in brain

description: An abnormal build up of iron (Fe) in brain tissue.


name: Multinucleated visceral epithelial cells

description: Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy.


name: Contracture of the metatarsophalangeal joint of the 2nd toe

description: The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively.


name: Periventricular white matter hyperintensities

description: Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.


name: Neonatal seizure with bilateral symmetric automatism

description: Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body symmetrically.


Hypocalciuria

description: An abnormally decreased calcium concentration in the urine.


Focal cortical dysplasia type IIb

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


Pelvic bone exostoses

description: A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.


Weak pulse

description: A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse.


hyperbilirubinemia

description: A disease characterized by elevated level of the pigment bilirubin in the blood.


name: Focal impaired awareness perseverative 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 inappropriate continuation of pre-seizure movement or behavior at onset.


name: Focal cognitive seizure with conduction dysphasia/aphasia

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


Large placenta

description: Increased size of the placenta.


polyarticular arthritis

description: An arthritis affecting five or more separate joints.


Subcutaneous nodule

description: Slightly elevated lesions on or in the skin with a diameter of over 5 mm.


Lower limb peromelia

description: Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation.


name: Increased subcutaneous truncal adipose tissue

description: The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body.


name: Elevated CSF angiotensin-converting enzyme concentration


Short distal phalanx of the 5th toe

description: Developmental hypoplasia of the distal phalanx of little toe.


Abnormal atrioventricular conduction

description: An impairment of the electrical continuity between the atria and ventricles.


rosacea

description: A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids.


name: Type 1 and type 2 muscle fiber minicore regions

description: Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.


Pulmonary vein varix

description: Pulmonary vein varix (PVV), refers to a localized dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent.


Thalamic calcification

description: Calcium deposition in the thalamus.


Absent middle phalanx of the 3rd toe

description: Developmental aplasia of the middle phalanx of third toe.


Renal pelvic carcinoma

description: The presence of a carcinoma in the renal pelvis.


Decreased CSF lysine concentration

description: Abnormally decreased levels of lysine in cerebrospinal fluid.


Abnormal CSF valine concentration

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


name: Increased phytanic acid:pristanic acid ratio

description: An elevation above the normal ratio of blood phytanic acid concentration to pristanic acid concentration.


Valvular pulmonary stenosis

description: A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately at the level of the pulmonary valve.


Hepatosplenomegaly

description: Simultaneous enlargement of the liver and spleen.


Volar fingernail

description: The presence of an extra nail on the palmar (volar, ventral) surface of the finger.


skeletal muscle disorder

description: A disease involving the skeletal muscle tissue.


Renal vein thrombosis

description: The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output.


leiomyosarcoma of the corpus uteri

description: An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells.


Dysarthria

description: Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.


description: Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at both sides of the body asymmetrically.


Penile hypospadias

description: Location of the urethral opening on the inferior aspect of the penis.


Hemosiderinuria

description: The presence of hemosiderin in the urine.


Hypoplasia of the pons

description: Underdevelopment of the pons.


Conspicuously happy disposition

description: An unusually happy demeanor over time, which can also be observed during inappropriate situations that should, for example, cause distress, fear, or anger.


Abnormality of the internal capsule

description: An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus.


Abnormal eye contact

description: Any abnormality of eye contact behavior. We define eye contact as a form of nonverbal communication between two individuals who are facing each other in which an individual directs the eyes towards the eyes or face of the other individual. Eye contact occurs frequently and voluntarily during face-to-face verbal communication. The duration and frequency of eye contact that is interpreted to be appropriate may follow social and situational norms.


Molluscoid pseudotumors

description: Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.


name: Partial duplication of the phalanges of the hallux


Curved proximal toe phalanx

description: A deviation from the normal straight shape of a proximal phalanx of one or more toes.


name: Abnormal circulating testosterone concentration

description: An anomalous concentration of testosterone in the blood.


Intrarenal reflux

description: Severe vesicoureteral reflux reaching the kidney parenchyma.


Hypoplasia of the bladder

description: Underdevelopment of the urinary bladder.


Increased CSF protein concentration

description: Increased concentration of protein in the cerebrospinal fluid.


third-degree atrioventricular block

description: A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)


Interface hepatitis

description: Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma.


Adrenal leiomyoma

description: Adrenal leiomyoma is a rare, benign solid tumor that develops from the smooth muscle of the adrenal vein and its tributaries


Bilateral fetal pyelectasis

description: A bilateral form of fetal pyelectasis.


osteopoikilosis

description: A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones.


paraphimosis

description: A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene.


Impulsivity

description: Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in self-harming behavior when under emotional distress.


name: Bullet-shaped proximal phalanx of the hallux

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


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

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


ceruminoma

description: A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a gray mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm.


Accessory spleen

description: An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.


Vascular hamartoma

description: A benign focal growth composed of vascular tissue.


Periportal fibrosis

description: The presence of fibrosis affecting the interlobular stroma of liver.


Valinemia

description: Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal.


Renal interstitial amyloid deposits

description: Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation.


adrenal gland cancer

description: A malignant neoplasm involving the adrenal gland


Hydrosalpinx

description: Hydrosalpinx is a distension or dilatation of the fallopian tube in the presence of a distal tubal occlusion.


name: Osteolytic defects of the distal phalanx of the 4th toe


Anejaculation

description: Inability to ejaculate.


Gonadal calcification

description: Deposition of calcium salts in gonadal tissue.


Facial-lingual fasciculations

description: Fasciculations affecting the tongue muscle and the musculature of the face.


Renal neutrophilic tubulitis

description: Infiltration of the renal tubular epithelium by neutrophils.


Pulmonary arteriovenous malformation

description: Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.


name: Abnormal electrophysiology of sinoatrial node origin

description: An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart.


Central diaphragmatic hernia

description: A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present.


Fractured coccyx

description: A partial or complete breakage of the coccyx.


name: Symphalangism affecting the distal phalanx of the 4th toe


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

description: A double outlet right ventricle with a subaortic ventricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is 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.


Lichenoid skin lesion

description: Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques.


Fixated interest with abnormal focus

description: A fixated interest in a specific topic that is atypical for the social context of the individual, such as topics of a non-social nature like fossils or vacuum cleaners.


hair follicle neoplasm

description: A benign or malignant neoplasm arising from the hair follicle.


vaginitis

description: A non-infectious or infectious inflammatory process affecting the vagina.


name: Elevated CSF gamma-aminobutyric acid concentration


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

description: Complete duplication of middle phalanx of third toe.


name: Focal impaired awareness sensory seizure with olfactory features

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


Axial malrotation of the kidney

description: An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney.


Addictive non-substance behaviors

description: Uncontrolled use or problematic behaviors of dependency without the use of drugs or substances can be detrimental.


Oligoarthritis

description: A type of arthritis that affects up to four joints in the first six months of disease.


Pretesticular azoospermia

description: Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels.


name: Left aortic arch with right descending aorta and right ductus arteriosus

description: The ring may be completed by the ductal ligament.


Internal carotid artery 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 internal carotid artery.


name: Melanin pigment aggregation in hair shafts


Gottron sign

description: Erythematous macules or patches over extensor surfaces of elbows, knuckles, knees, and ankles.


Pulmonary interstitial thickening

description: Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening.


name: cutis marmorata telangiectatica congenita

description: Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.


Edema

description: An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.


nevus comedonicus syndrome

description: A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood.


Curved distal phalanx of the 5th toe

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


name: Cortical radial artery intima/media liquefactive necrosis

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


name: Abnormal left ventricular outflow tract morphology

description: An abnormality of the outflow tract of the left ventricle.


fibroblastic neoplasm

description: A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts.


Caesarian section

description: Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy).


name: Smooth septal thickening on pulmonary HRCT

description: Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa.


Total hyposmia

description: Reduced ability to detect any qualitative olfactory sensation.


Platonychia

description: Abnormal flat nail.


Focal aware vocal automatism seizure

description: A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout.


Focal atonic seizure

description: A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature.


Frequent temper tantrums

description: Temper tantrums that occur more frequently compared to the temper tantrums that are a part of the normal developmental process.


acheiria

description: The total absence of the hand, with no bony elements distal to the radius or ulna.


name: Abnormality of ductus venosus blood flow

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


Interictal epileptiform activity

description: Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.


name: Accumulation of lipid droplets in small-bowel enterocytes


Generalized hirsutism

description: Abnormally increased hair growth over much of the entire body.


name: Predominantly dermal neutrophilic infiltrate

description: Collection of neutrophils in the dermis.


Exanthem

description: A widespread rash.


Occipital meningocele

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


Focal emotional seizure with pleasure

description: Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy.


name: Abnormal female reproductive system physiology


Auditory sensitivity

description: Decreased tolerance to sound.


cheilitis

description: An inflammatory process affecting the lip.


name: Abnormal circulating deoxycorticosterone level

description: An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone.


Intrapartum fever

description: The occurence of maternal fever during labor.


aprosencephaly

description: A very rare congenital brain defect in which the cerebral cortex, striatum, globus pallidus, thalamus, hypothalamus, and eyes are absent or rudimentary.


Renal interstitial inflammation

description: Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells.


Rosenthal fibers

description: Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders.


name: Abnormal amyloid beta 40 peptide CSF concentration

description: Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form.


Froment sign

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


name: Focal impaired awareness emotional seizure with paranoia

description: Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure.


Increased level of galactitol in urine

description: An increase in the level of galactitol in the urine.


Auditory hypersensitivity

description: Hyperresponsive to sound that is abnormal in intensity and/or frequency.


Subcutaneous arteriolar thrombosis

description: Fibrin thrombi inside subcutaneous arterioles.


tricuspid valve stenosis

description: Narrowing or stricture of the tricuspid orifice of the heart.


Neurenteric cyst

description: The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium.


Elevated urinary isovaleric acid level

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


name: Double inlet atrioventricular connection

description: The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve.


atrophic glossitis

description: Glossy appearance of the entire tongue surface.


metabolic bone disorder

description: A group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin D. Representative examples are osteomalacia, osteoporosis, and Paget disease.


name: Elevated circulating 7-dehydrocholesterol concentration

description: Concentration of 7-dehydrocholesterol in the blood circulation above the upper limit of normal.


name: Patchy sclerosis of the distal phalanx of the hallux


name: Abnormal renal arteriole intima/media morphology

description: Any structural anomaly located in the inner or middle layer of the arterioles of the kidney.


vulvodynia

description: Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months.


Congenital pouch colon

description: A malformation of the colon in which a pouch-like dilatation of a varying degree of shortened colon is associated with an anorectal malformation. The pouch usually terminates in a fistulous communication with the genitourinary tract.


name: Abnormal CSF glutamine family amino acid concentration

description: Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid.


Grasp reflex

description: A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395].


hydronephrosis

description: Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria.


name: Abnormal male urethral meatus morphology


Elevated urine glutaconic acid level

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


Single lineage myelodysplasia

description: Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic).


Heavy proteinuria

description: Severely increased levels of protein in the urine (1000-3000 mg per day in adults).


Hemobilia

description: Bleeding into the biliary tree.


Elevated urine malonic acid level

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


Subcutaneous spheroids

description: Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.


Infection-related seizure

description: Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever.


Atrophy of the dentate nucleus

description: Partial or complete wasting (loss) of dentate nucleus.


Delayed CNS myelination

description: Delayed myelination in the central nervous system.


Fetal tachycardia

description: The number of beats per minute (bpm) of the fetal heart is above the upper limit of the normal for the gestational age. Fetal tachycardia is thus defined as a heart rate greater than 160-180 bpm.


Granulomatous cholangitis

description: Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts.


name: Decreased CSF asialotransferrin to transferrin ratio

description: The concentration of asialotransferrin relative to that of transferrin in the cerebrospinal fluid (CSF) is below the lower limit of normal.


Renal tubular polyoma virus inclusions

description: Renal tubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection.


Skin infectious agent

description: The presence of an infectious agent in the skin.


Super-refractory status epilepticus

description: Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent.


name: Methicillin-resistant Staphylococcus aureus infection

description: Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection.


Abnormality of the Achilles tendon

description: An abnormality of the Achilles tendon.


Abnormal thalamus morphology

description: An abnormality of the thalamus.


name: Splenic lipid-laden macrophage infiltration

description: Accumulation of foamy cells (lipid-laden macrophages) in the parenchyma of the spleen.


name: Focal cognitive seizure with dyscalculia/acalculia

description: A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation.


name: Elevated urinary gamma-glutamylphenylalanine level

description: The amount of gamma-glutamylphenylalanine level in the urine, when normalized for urine concentration, is above the upper limit of normal.


Long penis

description: Penile length more than 2 SD above the mean for age.


Fibrocellular crescent

description: A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix.


name: Fractured epiphysis of middle phalanx of manus

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


Bowman capsular hyaline drops

description: An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material.


name: Elevated circulating acetylcarnitine concentration

description: Concentration of acetylcarnitine (C2 acylcarnitine) in the blood circulation above the upper limit of normal. Acetylcarnitine has a two-carbon acyl chain.


Absent pubic hair

description: Absence of pubic hair.


Reduced responsiveness to social cues

description: Abnormality in the way one responds to social cues such as a verbal cue (which should cause one to shift attention) or someone sharing their emotions (which should elicit a sympathetic response).


Submucous cleft palate

description: A cleft of the muscular portion of the palate that is covered by mucous membrane.


name: Infracardiac total anomalous pulmonary venous connection

description: Type 3 total anomalous pulmonary venous connection.


Increased libido

description: Elevated sexual desire.


name: Right sided atrium to left ventricle and absent left sided atrioventricular connection


Abnormal spleen physiology

description: Any anomaly of the function of the spleen.


neural tube defect

description: A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida.


Soft skin

description: Subjective impression of increased softness upon palpation of the skin.


Interlobular bile duct destruction

description: Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).


Abnormal CSF threonine concentration

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


name: Triangular shaped phalanges of the 5th toe


Abnormal cementum morphology

description: Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root).


Inappropriate sinus tachycardia

description: Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands.


xanthinuria type I

description: A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.


Hepatic calcification

description: The presence of abnormal calcium deposition in the liver.


Fetal vascular malperfusion

description: The term fetal vascular malperfusion (FVM) is used to describe placental pathology that is throught to result from an obstruction in fetal blood flow that could result from a number of conditions (eg, umbilical cord lesions, hypercoagulability, complications of fetal cardiac dysfunction, such as hypoxia, etc.).


Decreased urinary epinephrine level

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


Abnormal motor evoked potentials

description: An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways.


name: Thinning of the substantia nigra pars compacta

description: Reduced volume of pars compacta of the substantia nigra.


hydranencephaly

description: A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor.


name: Stippling of the epiphyses of the 5th toe

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


name: Decreased small intestinal mucosa lactase level

description: Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges.


Intralobar nephrogenic rest

description: A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls.


Aspartic aciduria

description: A increased concentration of aspartic acid in the urine.


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


Ectopic tooth eruption

description: A condition in which the permanent teeth, because of deficiency of growth in the jaw or segment of jaw, assume a path of eruption that intercepts a primary tooth, causes its premature loss and produces a consequent malposition of the permanent tooth.


name: Abnormality of the bed nucleus of stria terminalis

description: The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus.


name: Absent axon flare response after intradermal histamine injection

description: The axon reflex (also known as the flare response) is a response that is stimulated by peripheral nerves of the body that travels away from the nerve cell body and branches to stimulate target organs. In the human skin, there are three different phenomena mediated by axon reflex mechanism; flare, sweating and pilomotion. Stroking or intradermal injection of histamine or substance P into the human skin pro- duces widespread vasodilatation (flare) and plasma extravasation (wheal). This term refers to the failure of intradermal hista injection to elicit flare.


Fetal cerebral parenchymal hemorrhage

description: A type of fetal intracranial hemorrhage with bleeding into the parenchyma (tissue) of the brain.


name: Large clumps of pigment irregularly distributed along hair shaft


name: Fractured distal phalanx of pedal digit 1

description: A partial or complete breakage of the distal phalanx of pedal digit 1.


Facial cyanosis

description: Bluish discoloration of one or more regions of the face.


Pulmonary thromboembolism

description: Pulmonary embolism is caused by emboli, which have originated from venous thrombi, traveling to and occluding the arteries of the lung.


name: Duplication of the proximal phalanx of the hallux

description: Partial or complete duplication of the proximal phalanx of big toe.


Total colonic aganglionosis

description: A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon.


Dilatation of the ventricular cavity

description: A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.


Malignant genitourinary tract tumor

description: The presence of a malignant neoplasm of the genital system.


Abnormal renal artery morphology

description: Any structural abnormality of the renal artery.


name: Magnesium ammonium phosphate crystalluria

description: Magnesium ammonium phosphate crystals in the urine.


name: Abnormality of peripheral nervous system electrophysiology

description: An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles.


Low frustration tolerance

description: The feeling of frustration can be defined as an emotional reaction that occurs when a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration, characterized by crying or temper tantrums in children, or aggressive or other undesirable behaviors.


Frontal bossing

description: Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.


name: focal epithelial hyperplasia of the oral mucosa

description: The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate.


Akinesia

description: Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.


Generalized hypotrichosis

description: Reduced or lacking hair growth in a generalized distribution.


Spinning

description: An excessive frequency of spinning one's body.


Grayish enamel

description: A gray discoloration of the dental enamel.


benign muscle neoplasm

description: A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue.


penile agenesis

description: An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities.


neuralgia

description: A pain disorder characterize by pain in the distribution of a nerve or nerves


Anal mucosal leukoplakia

description: Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation.


Ductal bile plugs

description: Bile thrombi that form an obstruction (plug) in a dilated bile duct.


Dysgenesis of the basal ganglia

description: Structural abnormality of the basal ganglia related to defective development.


Multiple renal cysts

description: The presence of many cysts in the kidney.


Bowel irritability

description: Intermittent abdominal pain with diarrhea and/or constipation.


Abnormality of pulmonary circulation

description: A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart.


Delayed puberty

description: Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.


coxa vara

description: Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental.


Crouch gait

description: A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase.


Reduced tendon reflexes

description: Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.


Pseudocoarctation of the aorta

description: Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum.


Focal vocal automatism seizure

description: A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.


Abnormal joint morphology

description: An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.


Abnormal cerebral ventricle morphology

description: Any structural abnormality of the cerebral ventricles.


name: Glomerular capillary wall duplication without cellular interposition

description: Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.


amyloidosis

description: A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands.


Abnormality of chromosome condensation

description: An abnormality of chromosome condensation.


narcolepsy 1

description: A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy.


Secondary amenorrhea

description: The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.


Lower cranial nerve dysfunction

description: A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves.


agammaglobulinemia

description: A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes.


name: Absent left sided atrioventricular connection

description: A defect where there is no connection between the left atrium and left ventricle.


Fractured metatarsal bone of digit 5

description: A partial or complete breakage of the metatarsal bone of digit 5.


name: Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole

description: An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure.


name: Contracture of the proximal interphalangeal joint of the 3rd toe

description: The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.


Abnormal vena cava morphology

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


Erythrocyte cylindruria

description: Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.


Kinesiophobia

description: An excessive, irrational, and debilitating fear of carrying out a physical movement due to a feeling of vulnerability to painful injury or reinjury.


cervical vertebrae, agenesis of

description: Agenesis of one or more vertebrae of the cervical vertebral column.


Fossa navicularis urethral stricture

description: A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis.


2-ethylhydracylic aciduria

description: An increased concentration of 2-ethylhydracylic acid in the urine.


Abnormal auditory evoked potentials

description: An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.


Aplasia of the ovary

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


Grade V vesicoureteral reflux

description: Vesicoureteral reflux with massive dilation of the collecting system and severe tortuosity of the ureter.


Abnormal pulmonary vein physiology

description: An abnormality of the function of the pulmonary veins.


name: hypertrichosis cubiti-short stature syndrome

description: Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.


Autoamputation of foot

description: The spontaneous detachment of a foot from the body due to long standing pathology.


Abnormal localization of kidney

description: An abnormal site of the kidney.


Geophagia

description: The practice of eating earth or soil-like substrates such as clay or chalk.


Intralobular septal thickening

description: Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern.


EEG with periodic complexes

description: Periodically occurring generalized periodic complexes.


name: Supraventricular tachycardia with a manifest accessory pathway on the right free wall


hypotrichosis

description: A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body.


Draining sinus tract in skin

description: A sinus tract is an abnormal channel that originates from the skin or a mucous surface to a deep-seated focus of suppuration.


name: Abnormality of hepatobiliary system physiology

description: A functional anomaly of the hepatobiliary system


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


name: Left aortic arch with retroesophageal right subclavian artery

description: Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body.


Colonic arteriovenous malformation

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


name: Abnormal esterified to free carnitine ratio

description: Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.


name: Recurrent, involuntary, and intrusive distressing memories

description: After experiencing psychological trauma, individuals may repeatedly encounter sensory-perceptual impressions of the event that intrude into their consciousness involuntarily. These intrusive memories often manifest as visual images (such as mental pictures), but can also involve sounds, smells, tastes, and physical sensations. They are accompanied by a variety of negative emotions linked to the most intense moments of the traumatic memory.


Positive pathergy test

description: With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result.


Duplication of proximal phalanx of toe

description: Partial/complete duplication of a proximal phalanx of toe.


Onycholysis

description: Detachment of the nail from the nail bed.


name: Increased level of hexanoylglycine in urine

description: Elevated concentration of hexanoylglycine in the urine.


name: Fibrofatty replacement of right ventricular myocardium

description: Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue.


name: Metatarsal diaphyseal endosteal sclerosis

description: Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones.


Gluten allergy

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


name: Focal impaired awareness emotional seizure with fear/anxiety/panic

description: Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure.


name: Small epiphysis of the distal phalanx of the hallux


name: Focal impaired awareness sensory seizure with cephalic sensation

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


Reduced hair sulfur content

description: Abnormally low amount of sulfur in hair.


name: Elevated urine 2-methylcitric acid level

description: Amount of 2-methylcitric acid in the urine above the upper limit of normal.


Intraventricular hemorrhage

description: Bleeding into the ventricles of the brain.


Vestibular areflexia

description: Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography.


Macronodular adrenal hyperplasia

description: Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually more than one centimeter in diameter.


Repeated focal motor seizures

description: A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus.


Premature skin wrinkling

description: The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.


name: Neonatal insulin-dependent diabetes mellitus


Pachygyria

description: Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.