Elevated urine erythritol level

description: Amount of erythritol in the urine above the upper limit of normal.


Fetal intracranial hemorrhage

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

description: Abnormal bleeding inside the skull (cranium) of a fetus.


Dilated vas deferens

description: Abnormal increase in diameter (expansion) of the vas deferens.


Abnormal interest

description: Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something.


Abnormality of hair texture

description: An abnormality of the texture of the hair.


Hypothalamic atrophy

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


Renal tubular epithelial cell sloughing

description: At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast.


name: Patchy sclerosis of the proximal phalanx of the hallux


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


Esophageal furrows

description: Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus).


Talipes calcaneovarus

description: A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus.


name: Increased carotid artery intimal medial thickness

description: An increase in the combined thickness of the intima and media of the carotid artery.


Microscopic hematuria

description: Microscopic hematuria detected by dipstick or microscopic examination of the urine.


Fluctuating splenomegaly

description: Intermittently increased size of the spleen.


name: Extension of hair growth on temples to lateral eyebrow

description: A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows.


Gastrointestinal telangiectasia

description: Telangiectasia affecting the gastrointestinal tract.


Abnormal leukocyte morphology

description: An abnormality of leukocytes.


name: Focal impaired awareness pedal 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 coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.


EEG with temporal sharp waves

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


Neuronal intranuclear inclusion bodies

description: The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neurons.


Reduced object sharing

description: An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play.


Tonofilament clumping

description: Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes.


Hypertensive crisis

description: A severe, acute increase in blood pressure that may result in stroke or myocardial ischemia.


name: myeloproliferative disorder, chronic, with eosinophilia

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


Arcuate vein medial hypertrophy

description: Increased thickness of middle layer of the arcuate veins of the kidney.


Orthokeratotic hyperkeratosis

description: A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.


Ureteral mass

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


Abnormal coronary sinus morphology

description: An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium.


Heart block

description: Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.


Posterior atrophy of corpus callosum

description: The presence of atrophy (wasting) of the posterior portion of the corpus callosum.


Abnormal atrial septum morphology

description: An abnormality of the interatrial septum.


Duplication of distal phalanx of toe

description: A partial or complete duplication of one or more distal phalanx of toe.


Decreased CSF epinephrine concentration

description: Concentration of epinephrine in the cerebrospinal fluid below the lower limit of normal.


name: Agenesis of primary mandibular central incisor

description: Agenesis of lower primary incisor.


polyp of vocal cord

description: A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice.


name: Increased CSF phenylalanine concentration

description: Abnormally increased levels of phenylalanine in cerebrospinal fluid.


ovarian thecoma

description: A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign.


Leptomeningeal enhancement

description: Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis.


Abdominal guarding

description: A voluntary contraction of the abdominal wall musculature to avoid pain.


name: Fetal intraventricular hemorrhage with periventricular hemorrhage

description: A type of fetal intraventricular hemorrhage that additionally includes hemorrhage in a large part of the periventricular parenchyma.


name: Focal impaired awareness cognitive seizure with memory impairment

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


T2 hypointense thalamus

description: A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus.


thymus neoplasm

description: A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma.


Elevated urinary D-glyceric acid level

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


chronic otitis media

description: Chronic form of otitis media (disease).


triphalangeal thumb, Nonopposable

description: A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand.


Brisk reflexes

description: Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.


name: Increased level of hippuric acid in urine

description: An increase in the level of hippuric acid in the urine.


name: Focal-onset seizure evolving into bilateral convulsive status epilepticus

description: A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.


Thyroid adenoma

description: The presence of a adenoma of the thyroid gland.


Abnormal hypnagogia

description: Abnormal transition of consciousness from wakefulness to sleep.


Testicular fibrosis

description: Formation of excess connective tissue in the testicle.


distal renal tubular acidosis

description: Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.


Bowman-space proteinaceous debris

description: The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space.


Digital pitting scar

description: Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe.


Negative affectivity

description: A tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states.


chondroma

description: A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes.


Abnormal primary molar morphology

description: An abnormality of morphology of primary molar.


immunodeficiency disease

description: Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.


tinea profunda

description: A dermatophytosis that involves the deep dermal layers.


Impaired self monitoring

description: Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior.


Colonic fibrinopurulent exudate

description: Fluid visible on the colonic surface containing fibrin, inflammatory cells, and cellular debris.


Cystic pattern on pulmonary HRCT

description: On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema.


Increased hepatocellular lipid droplets

description: An abnormal increase in the amount of intracellular lipid droplets in hepatocytes.


Decreased size of nerve terminals

description: A reduction in the size of nerve terminals.


Palilalia

description: Palilalia is the involuntary repetition of one's own phrases, words, or syllables 2 or more times in a row. Typically, palilalic utterances decrease in volume with the increasing number of repetitions. Sometimes, the repetitions are also uttered with an accelerating speed.


Gaze avoidance

description: A deliberate avoidance of eye contact.


Abnormal eating behavior

description: Abnormal eating habits involve excessive or insufficient consumption of food, or any other abnormal pattern of food consumption.


Ductus venosus agenesis

description: A developmental defect characterized by lack of formation of the ductus venosus (a shunt that allows oxygenated blood in the umbilical vein to bypass the liver in the fetal circulation).


Breast myxoma

description: A rare, benign mesenchymal tumor of the breast characterized histologically by stellate, round, and spindle-shaped cells with vesicular nuclei and scant cytoplasm that are scattered in the myxoid stroma.


Abnormal testis morphology

description: An anomaly of the testicle (the male gonad).


Increased urinary phosphoserine level

description: An increased level of phosphoserine in the urine.


Renal chloride wasting

description: High urine chloride in the presence of hypochloridemia.


arachnoid cyst

description: Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)


Dorsal hirsutism

description: Abnormally increased hair growth in the lskin of the back.


Abnormal pitch

description: Abnormally high or low-pitched vocalization or speech.


name: Patchy sclerosis of the proximal phalanx of the 5th toe

description: Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


name: Partial duplication of the distal phalanx of the 4th toe

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


congenital absence of septum pellucidum

description: The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made.


focal segmental glomerulosclerosis 1

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene.


name: Posterior fossa cyst at the fourth ventricle


Spermatogenesis maturation arrest

description: Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa.


Mesangial matrix expansion

description: Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas.


name: Spinal stenosis with reduced interpedicular distance

description: An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging).


Comedonal acne

description: A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules.


prolapse of urethra

description: Prolapse of the urethral mucosa from the exterior urethral opening.


Petechiae

description: Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.


nervous system cancer

description: A primary or metastatic malignant neoplasm involving the nervous system.


name: Congenital malformation of the great arteries

description: Defect or defects of the morphogenesis of the aorta and pulmonary arteries.


name: Anomalous insertion of papillary muscle directly into anterior mitral leaflet

description: A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet.


Acephalic spermatozoa

description: Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head.


Gastrointestinal angiodysplasia

description: Dysplasia affecting the vasculature of the gastrointestinal tract.


Melena

description: The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.


tooth ankylosis

description: Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement.


Abnormal umbilicus morphology

description: An abnormality of the structure or appearance of the umbilicus.


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


Persistent left superior vena cava

description: A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.


Tongue neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized in the tongue.


Self-neglect

description: Neglecting one's own needs and well-being.


Bulbous tooth

description: A tooth crown with a marked cervical area constriction.


name: Nodular-random pattern on pulmonary HRCT

description: A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern.


name: Double inlet to single ventricle with common atrioventricular orifice


name: Eosinophilic microabscess formation in the esophagus

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


Abnormality of the gingiva

description: Any abnormality of the gingiva (also known as gums).


Scrotal pain

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


Postmenopausal bleeding

description: Uterine bleeding that occurs after at least one year of amenorrhea in a woman who is not receiving hormone therapy.


Abnormal postural reflex

description: Anomaly of the physiological response to maintain the body's posture when movement and position is altered.


craniofacial dystonia

description: A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.


Hyperlysinuria

description: An increased concentration of lysine in the urine.


acromial dimples

description: A subtype of skin dimples occurring in the shoulder region.


Abnormal aortic valve morphology

description: Any abnormality of the aortic valve.


Night sweats

description: Occurrence of excessive sweating during sleep.


pulmonary subvalvular stenosis

description: The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies.


Decreased heart rate variability

description: Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.


Elevated urinary dihydrothymine level

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


Decreased level of erythritol in urine

description: A decrease in the level of erythritol in the urine.


Abnormal CSF serine concentration

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


Tubular microcystic change

description: Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border.


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


name: vitamin K deficiency hemorrhagic disease

description: Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding.


name: Contracture of the metatarsophalangeal joint of the 3rd toe

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


Tapered tooth

description: A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors.


oligohydramnios

description: A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm.


Type VI atherosclerotic lesion

description: Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes.


name: Increased extraneuronal autofluorescent lipopigment

description: Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.


Freezing of gait

description: Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk.


Decreased CSF glutamate concentration

description: Abnormally decreased levels of glutamic acid in cerebrospinal fluid.


name: EEG with generalized epileptiform discharges

description: EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.


name: Elevated circulating medium-chain acylcarnitine concentration

description: Concentration of medium-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Medium-chain acylcarnitines have between six and twelve carbon atoms in the acyl-chain (C6-C12),


Recurrent fever

description: Periodic (episodic or recurrent) bouts of fever.


description: Absence or underdevelopment of the nasopharyngeal adenoids.


Abnormal arcuate artery morphology

description: Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla.


name: Focal aware sensory seizure with olfactory features

description: Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant.


Renal medullary hyperechogenicity

description: Increased echogenecity of the medullary region of the kidney.


Acute demyelinating polyneuropathy

description: Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.


name: Abnormal glomerular visceral epithelial cell morphology

description: Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary.


Increased CSF threonine concentration

description: Abnormally increased levels of threonine in cerebrospinal fluid.


Fractured shoulder bone

description: A partial or complete breakage of a shoulder bone.


Abnormal urinary odor

description: A deviation from the normal odor of the urine.


Abnormal right atrium morphology

description: Any structural abnormality of the right atrium.


cerebral palsy

description: A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain.


Singsong Intonation

description: A speech pattern characterized by abnormal fluctuations in the pitch of the voice.


Abnormal sex determination

description: Anomaly of primary or secondary sexual development or characteristics.


venous insufficiency

description: Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle.


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

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


Carcinoid tumor of the pancreas

description: A carcinoid tumor of the pancreas (CTP) is a rare neuroendocrine tumor arising from the serotonin-secreting cells (enterochromaffin or Kultscitsky's cells).


split hand-foot malformation

description: Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.


Decreased HDL3b concentration

description: A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.


Short distal phalanx of the 2nd toe

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


name: Loss of Purkinje cells in the cerebellar vermis


Abnormal cerebral artery morphology

description: Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.


Heavy-chain paraproteinemia

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


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


Gastrointestinal ulcer

description: A deep defect in the esophageal, gastric, duodenal or intestinal wall involving the entire mucosal thickness and penetrating through the muscularis mucosae.


Abnormal elasticity of skin

description: Any abnormal increase or reduction in skin elasticity.


name: Reduced epidermal keratin 10 protein expression

description: Amount of keratin 10 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


diffuse alveolar hemorrhage

description: A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.


name: Reduced epidermal keratin 5 protein expression

description: Amount of keratin 5 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


Fractured head of femur

description: A partial or complete breakage of the head of femur.


megalodactyly

description: A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances.


Dialeptic seizure

description: A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event.


name: Abnormality of digestive system physiology

description: A functional anomaly of the digestive system.


nose, anomalous shape of

description: Increased volume and globular shape of the anteroinferior aspect of the nose.


name: Arcuate artery endoarterial lymphocyte hypercellularity

description: A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery.


name: Elevated circulating 3-hydroxypalmitoleylcarnitine concentration

description: Concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation above the upper limit of normal.


name: Autonomic-voluntary dissociation of facial movements

description: The selective paralysis of voluntary fascio-pharyngo-glosso-masticatory movements with preservation of reflexive and automatic functions is referred to as autonomic-voluntary dissociation, which is a distinctive feature of Anterior opercular syndrome (also known as Foix-Chavany-Marie syndrome).


Delayed Echolalia

description: Repetition of borrowed words or phrases outside of the context in which they were originally heard. E.g., scripting from TV shows or movies.


Abnormality of intracranial pressure

description: A deviation from the norm of the intracranial pressure.


name: Fractured epiphysis of second metacarpal bone

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


Positive CMV urine nucleic acid test

description: Detection of Cytomegalovirus (CMV) nucleic acid in the urine by a method such as polymerase chain reaction.


name: Interlobular vein intima/media coagulative necrosis

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


name: Abnormal lower-limb motor evoked potentials

description: An anomaly identified by motor evoked potentials (MEPs) in the leg.


Generalized non-motor (absence) seizure

description: A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.


Congenital pyloric atresia

description: Congenital atresia of the pylorus.


Glomerular endotheliosis

description: Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen.


Subepidermal blistering

description: A type of blistering in which the lesions are located beneath the epidermis.


pituicytoma

description: An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido.


name: Fractured distal phalanx of manual digit 4

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


Thick spermatozoon midpiece insertion

description: Increased width of the midpiece of the spermatozoon. The midpiece is the structure that is located between the head and the flagella (tail) of the spermatozoon. This term applies if the width of the midpiece increases progressively from the flagella to the head and if the proportion of individual spermatozoa with this anomaly is above the upper limit of normal.


Dorsocervical fat pad

description: An area of fat accumulation at the back of the neck in the form of a hump.


acanthosis nigricans

description: A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy.


Abnormality of the face

description: An abnormality of the face.


Incomplete right bundle branch block

description: Right bundle branch block (RBBB) represents an abnormality in the intraventricular electrical conduction system of the human heart, generating enlarged QRS and modified vectors on the electrocardiogram (ECG). Incomplete RBBB (IRBBB) is defined by (i) QRS duration between 110 and 120 ms in adults; (ii) rsr, rsR, or rSR in leads V1 or V2. The R or r deflection is usually wider than the initial R wave. In a minority of patients, a wide and often notched R wave pattern may be seen in leads V1 and/or V2; (iii) S wave of greater duration than R wave or greater than 40 ms in leads I and V6 in adults; and (iv) Normal R peak time in leads V5 and V6 but greater than 50 ms in lead V1. The first 3 criteria should be present to make the diagnosis. When a pure dominant R wave with or without a notch is present in V1, criterion 4 should be satisfied.


sweat gland disorder

description: A disease involving the sweat gland.


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

description: The concentration of N-carbamyl-beta-aminoisobutyric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Hydrocele testis

description: Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.


name: Abnormal cortical radial artery intima/media morphology

description: Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney.


name: Aplasia/Hypoplasia of the pyramidal tract


Luse bodies

description: Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands.


Pseudo-chilblain

description: Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet.


Barking cough

description: A cough with a characteristic sound that has been compared to a seal's bark.


Glomerular fibrinoid necrosis

description: Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis.


Dilated fourth ventricle

description: An abnormal dilatation of the fourth cerebral ventricle.


name: Abnormal phytanic acid:pristanic acid ratio

description: Any deviation from the normal ratio of blood phytanic acid concentration to pristanic acid concentration.


U wave inversion

description: Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves.


preaxial hallucal polydactyly

description: Duplication of all or part of the first ray.


Translamellar aortic medial fibrosis

description: A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units.


Comedo

description: A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).


Gastrointestinal hemorrhage

description: Hemorrhage affecting the gastrointestinal tract.


Pelizeaus-Merzbacher spectrum disorder

description: An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.


Glomerular C3 deposition

description: The presence of complement 3 deposits in the glomerulus.


Abnormal bowel sounds

description: An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis.


name: Increased serine family amino acid in urine

description: An increased level of a serine family amino acid in the urine.


precocious puberty

description: Unusually early sexual maturity.


name: Pallor of dorsal columns of the spinal cord

description: An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination.


Decreased male libido

description: Reduced desire for sexual activity on the part of a male.


Type I atherosclerotic lesion

description: Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells).


Short phalanx of the 2nd toe

description: Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia.


Tufted hairs

description: The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice.


perinephritis

description: Inflammation of the connective and adipose tissues surrounding the kidney.


name: Saccular descending thoracic aortic aneurysm

description: An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall


Renal tubular viral cytopathic changes

description: Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells.


name: Effort-induced polymorphic ventricular tachycardia

description: Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.


name: Elevated CSF argininosuccinic acid concentration

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


name: Increased glutamine family amino acid level in urine

description: An elevated level of an glutamine family amino acid in the urine.


Dysdiadochokinesis

description: A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.


Decreased CSF alanine concentration

description: Abnormally decreased levels of alanine in cerebrospinal fluid.


Cerebellar edema

description: Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.


pseudohypoaldosteronism

description: An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate.


Late chronotype

description: A tendency towards waking up very late in the morning and staying up late at night.


Thunderclap headache

description: Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days.


Plant based food allergy

description: Hypersensitivity in form of an adverse immune reaction against plant based food allergens.


EEG with central sharp slow waves

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


name: Abnormal spatial orientation of the cardiac segments

description: Abnormality of the spatial relationship of the cardiac segments to other components of the heart.


name: Elevated urinary N-methylhistamine level

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


prostate neoplasm

description: A neoplasm (disease) that involves the prostate gland.


Spinal cord xanthomatosis

description: Lipid deposits localized within the spinal cord. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.


Mucoid diarrhea

description: Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes.


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

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


Urinary bladder mass

description: A swelling or enlargment localized to the urinary bladder. 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: Elevated CSF apolipoprotein B concentration

description: The concentration of apolipoprotein B in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Spondylolisthesis at L5-S1

description: Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1).


Abnormal epididymis morphology

description: An abnormality of the epididymis.


Fractured humerus

description: A partial or complete breakage of the humerus.


Epsilon wave

description: An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave.


Erythematous plaque

description: A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.


Impacted tooth

description: A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).


4-5 toe syndactyly

description: Syndactyly with fusion of toes four and five.


Right-to-left shunt

description: Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.


Sex reversal

description: Development of the reproductive system is inconsistent with the chromosomal sex.


name: Cone-shaped epiphysis of the proximal phalanx of the 2nd toe


Abnormal ureter morphology

description: A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.


Diplomyelia

description: Duplication of the spinal cord.


Angiofibromas

description: Angiofibroma consist of many often dilated vessels.


name: Intraluminal thrombi within interlobular veins

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney.


Intrapulmonary shunt

description: Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs.


name: Focal impaired awareness cognitive seizure with hallucination

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


diphallia

description: Two penile structures, separated from the tip to the base of the shaft.


Abnormal genital pigmentation

description: An abnormal pigmentation pattern of the external genitalia.


Abnormal urine citrate concentration

description: A deviation from normal of the concentration of citrate(3-) in the urine.


Fractured bone of jaw

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


name: Osteolytic defect of the proximal toe phalanx

description: Dissolution or degeneration of bone tissue of the proximal toe phalanx.


Recurrent cutaneous abscess formation

description: An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.


Skewfoot

description: A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occur under the metatarsal heads and the head of the plantar-flexed talus.


myelomeningocele

description: Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect.


name: EEG with frontal epileptiform discharges

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


name: Abnormality of the epiphyses of the hallux


Intratubular dihydroxyadenuria crystals

description: Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver.


Vesicular eruption

description: A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic.


scurvy

description: A condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur.


malignant endocrine neoplasm

description: A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma.


Fibrous crescent

description: A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference.


atrial septal defect

description: Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart.


Abnormal play

description: An abnormality in a child's ability play.


anterograde amnesia

description: Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71)


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


Shock

description: The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury.


name: Interlobular vein intima/media venulitis

description: Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural.


Odynophagia

description: Pain experienced with swallowing.


Positive hydrogen breath test

description: Abnormally elevated quantiy of hydrogen measured by a hydrogen breath test (HBT). HBTs administer substrates such as glucose, lactulose, lactose and fructose and subsequently measure hydrogen exhaled in the breath using a gas chromatograph.


Dystrophic toenail

description: Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.


Focal cortical dysplasia type IIIa

description: A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organization (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis).


name: Elevated urine 2-trans,4-cis-decadienoylcarnitine level

description: The amount of 2-trans,4-cis-decadienoylcarnitine in the urine, normalized for urine concentration, is above the upper limit of normal.


Abnormal ganglion morphology

description: An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system.


name: Bilateral sensorineural hearing impairment

description: A bilateral form of sensorineural hearing impairment.


name: platelet-activating factor acetylhydrolase deficiency

description: Reduced level of platelet-activating factor acetylhydrolase.


Megacystis

description: Dilatation of the bladder postnatally.


Increased pulmonary vascular resistance

description: Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units.


Coprolalia

description: Coprolalia denotes the involuntary utterance of obscenities. Intent is an important classifier in coprolalic behaviors, and unfortunately it remains unclear how to objectively distinguish coprolalia from common swearing.


Urinary bladder hamartoma

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


Sclerosis of toe phalanx

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


Prolonged QT interval

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


Brain fog

description: Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is "cloudy". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously.


Abnormal rituals

description: Insistence on rituals which are self-imposed on a person's environment including directing the behavior of those around them.


Vocal tremor

description: A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability.


situs inversus

description: A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning).


name: Facial expressions not directed to others


Extremely preterm birth

description: Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation).


Abnormality of the falx cerebri

description: An abnormality of the Falx cerebri.


name: Generalized hypotonia due to defect at the neuromuscular junction


epidermolytic ichthyosis

description: A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.


Gonadotropin deficiency

description: A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).


Abnormality of the axillary hair

description: Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty.


Fractures of the long bones

description: An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna).


Abnormal HDL subfraction concentration

description: An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm).


Abnormal digestive system morphology

description: A structural anomaly of the digestive system.


name: Ivory epiphysis of the distal phalanx of the 5th toe


Time agnosia

description: The inability to perceive the passage of time is usually due to a disorder involving the temporal area of the brain.


Foot asymmetry

description: A difference in size or shape between the left and right foot.


Hypoplasia of the gallbladder

description: The presence of a hypoplastic gallbladder.


Addictive methamphetamine use

description: Addiction to methamphetamine.


Short fifth metatarsal

description: Short (hypoplastic) fifth metatarsal bone.


Separation insecurity

description: Fears of rejection by and/or separation from significant others are associated with fears of excessive dependency and complete loss of autonomy.


name: Uni- and bilateral multifocal epileptiform discharges

description: Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere.


patent urachus

description: Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.


Dental enamel pits

description: The presence of small depressions in the dental enamel.


name: Aplasia/Hypoplasia of the proximal phalanx of the hallux


Elevated urine kynurenine level

description: An abnormally increased amount of kynurenine in the urine.


Excessive daytime somnolence

description: A state of abnormally strong desire for sleep during the daytime.


Interrupted aortic arch type C

description: Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries.


Astrocytosis

description: Proliferation of astrocytes in the area of a lesion of the central nervous system.


name: Abnormal gastrointestinal tract morphology

description: Abnormal structure of the gastrointestinal tract.


limb-girdle muscular dystrophy

description: Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.


Leydig cell hypoplasia

description: A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.


Truncus arteriosus

description: A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.


Reticular pattern on pulmonary HRCT

description: On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh.


name: Fractured distal epiphysis of distal phalanx of manual digit 1

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


Axillary epidermoid cyst

description: An epidermoid cyst in the armpit.


Esophageal hemangioma

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


Impaired distal proprioception

description: A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.


name: Glomerular endocapillary leukocyte hypercellularity

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


Morgagni diaphragmatic hernia

description: An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity.


Abnormal cardiac atrial physiology

description: An abnormality of the function of the cardiac atria.


Nummular eczema

description: A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet


name: Supraventricular tachycardia with a manifest accessory pathway


Meteorism

description: An increase in the gas content inside the bowel associated with distension of the abdomen and hydroaeric noises. The most common symptom of meteorism is a bloated sensation. It may be associated with abdominal discomfort. Some individuals may also complain of a distended stomach and excessive belching and/or passage of flatus.


Pulmonary artery adventitial fibrosis

description: Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree.


Myoclonic seizure

description: A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.


primary cutis verticis gyrata

description: Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG).


Bowel diverticulosis

description: The presence of multiple diverticula of the intestine.


Abnormal CSF metabolite concentration

description: Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.


Deep venous thrombosis

description: Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.


Necrolytic migratory erythema

description: Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution.


Abdominal wall defect

description: An incomplete closure of the abdominal wall.


T-shaped uterus

description: An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging.


fetal akinesia deformation sequence

description: Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes.


brachydactyly type A5

description: Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb.


Hyperactivity

description: Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.


name: Facial expressions that do not match the context

description: Production of facial expressions that are misaligned with the social context.


Palatal tremor

description: Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral.


Increased CSF taurine concentration

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


narcolepsy

description: A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day.


name: Paradoxical increased cortisol secretion on dexamethasone suppression test


Photosensitive tonic-clonic seizure

description: Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.


testicular teratoma

description: A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites.


name: Sclerosis of the middle phalanx of the 2nd toe


Plaque-like facial hemangioma

description: Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology.


Action myoclonus

description: A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli.


Abnormal HDL cholesterol concentration

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


name: Increased density of left ventricular trabeculae

description: An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae).


name: Focal autonomic seizure with pupillary dilation/constriction

description: A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature.


Hypercholesterolemia

description: An increased concentration of cholesterol in the blood.


Vertebral artery aneurysm

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


name: Elevated circulating hydroxybutyric acid concentration

description: An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent.


deafness, unilateral

description: A unilateral absence of sensory perception of sound.


Flattened metatarsal heads

description: Abnormally flat shape of the heads of the metatarsal bones.


Phimosis

description: The male foreskin cannot be fully retracted from the head of the penis.


name: Bicuspid aortic valve with right-left cusp fusion

description: A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure.


Multiple small bowel atresias

description: The presence of multiple areas of atresia affecting the small intestine.


name: Abnormality of prenatal development or birth

description: An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.


complete atrioventricular canal

description: Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow.


Chiari malformation type 3

description: A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele.


Recurrent fungal infections

description: Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.


Self-biting

description: Habitual biting of one's own body.


Selective mutism

description: Voluntary failure to use spoken language (at whatever level attained) in selective social contexts over a period of time.


periostitis

description: Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed)


Loose association

description: Speech characterized by weak (e.g. tangential/circumstantial) or absent (e.g. word salad) connections between ideas.


Genu varum

description: A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.


name: Organized thrombi within interlobular vein lumen

description: Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney.


demyelinating polyneuropathy

description: Polyneuropathy that is characterized by demyelination of axons.


Axonal regeneration

description: The presence of axonal regeneration following a previous axonal lesion.


description: Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light.


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

description: An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure.


vulvar melanoma

description: A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria.


Peripheral lung neovascularity

description: The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy.


Abnormal synaptic transmission

description: An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process.


Postural tremor

description: A type of tremors that is triggered by holding a limb in a fixed position.


name: Aplasia of the distal phalanges of the toes

description: Absence of the distal phalanges of the toes.


hyperlysinemia

description: Hyperlysinaemia is a lysine metabolism disorder characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.


Abnormal urine output

description: An abnormal amount of urine production.


Fibrofolliculoma

description: Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.


name: Mesial parasagittal subcortical heterotopia

description: Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia.


name: Abnormal resting energy expenditure from metabolic cart test

description: Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2).


name: 2nd-5th toe middle phalangeal hypoplasia


Abnormality of dorsal nasal artery

description: An abnormality of a dorsal nasal artery.


Broad 3rd toe

description: A broad appearance of the third toe.


Abnormal urine carboxylic acid level

description: Any deviation from the normal concentration of a carboxylic acid in the urine.


Ventral hernia

description: Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.


renal hypomagnesemia 2

description: Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.


Basal ganglia gliosis

description: Focal proliferation of glial cells in the basal ganglia.


CNS hypomyelination

description: Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.


Painless fractures due to injury

description: An increased tendency to fractures following trauma, with fractures occurring without pain.


name: Elevated circulating isovalerylcarnitine concentration

description: Concentration of O-isovalerylcarnitine in the blood circulation above the upper limit of normal.


Abnormality of dental color

description: A developmental defect of tooth color.


Middiastolic murmur

description: A murmur that occurs in the middle of the diastolic phase.


Vaginal birth after Caesarian

description: Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally.


Leg dystonia

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


Palatine myxoma

description: A myxoma (A benign tumor composed of myxomatous tissue composed of loosely-arranged spindle, polygonal, and stellate cells) localized to the palate. Clinically, such tumors may present as a sessile nodule on the hard palate.


name: Abnormality of the lumbosacral nerve plexus

description: Any abnormality of the lumbosacral nerve plexus.


name: Pulmonary interstitial lymphocyte infiltration

description: Abnormal accumulation of lymphocytes in the interstitium of the lung.


optic nerve glioma

description: A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.


linear nevus sebaceous syndrome

description: Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).


Abnormality of canine

description: An abnormality of canine tooth.


name: Osteolytic defects of the middle phalanges of the toes


Delayed eruption of primary teeth

description: Delayed tooth eruption affecting the primary dentition.


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

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


name: Focal impaired awareness undressing automatism seizure

description: A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset.


Spastic triplegia

description: Spastic weakness found in both lower extremities and one upper extremity.


Absent fifth metatarsal

description: A developmental abnormality characterized by the absence of the fifth metatarsal bone.


name: Premature delivery because of cervical insufficiency or membrane fragility


sirenomelia

description: Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.


Scaling skin on fingertip

description: Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips.


Hyperperistalsis

description: Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine.


Primitive reflex

description: The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.


Abnormal relationship

description: The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships, lacking close friends, or having a relational network that is abnormal given one's cultural context.


3-4 toe syndactyly

description: Syndactyly with fusion of toes three and four.


AA amyloidosis

description: Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.


name: Increased urine sebacic acid concentration

description: Elevated concentration of sebacic acid in the urine.


Toenail onycholysis

description: Painless and spontaneous separation of a toenail from the nail bed.


name: Focal impaired awareness behavior arrest seizure

description: A focal behavior arrest seizure characterized by impaired awareness at some point during the seizure.


Subcutaneous neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized in the subcutis (subcutaneous region).


Medication crystalluria

description: A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber color. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance.


hypolipoproteinemia

description: Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins).


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


Delusion of infidelity

description: A false belief that a person is the victim of his or her partner's unfaithfulness.


Macular purpura

description: Purpura that is flat (non-palpable, not raised).


Short middle phalanx of toe

description: Developmental hypoplasia (shortening) of middle phalanx of toe.


Cerebral white matter hypoplasia

description: Underdevelopment of the cerebral white matter.


Abnormal pulmonary vein morphology

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


name: Anomalous origin of left pulmonary artery from ascending aorta

description: The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.


name: Elevated CSF 14-3-3 protein concentration

description: The concentration of 14-3-3 protein in the cerebrospinal fluid (CSF) is above the upper limit of normal.


scrotum neoplasm

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


Plantar hyperkeratosis

description: Hyperkeratosis affecting the sole of the foot.


colonic atresia

description: Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.


Late systolic murmur

description: A murmur that occurs in the latter phase of systole.


Abnormal atrial arrangement

description: Abnormality of the spatial relationship of the atria to other components of the heart.


Decreased need for sleep

description: There has been a noticeable decrease in the need for sleep, where individuals feel refreshed even with minimal or no sleep.


Impaired renal uric acid clearance

description: A reduction in the ability of the kidneys to remove uric acid from the serum.


Supravalvar pulmonary stenosis

description: A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve.


name: Supraventricular tachycardia with a concealed accessory pathway on the left free wall


Elevated urinary indican level

description: Detection of indican in the urine. Urinary indican concentration may be elevated in small bowel bacterial overgrowth. Indican is produced by bacterial deconjugation of dietary tryptophan to indole which is absorbed at all levels of the intestine, but principally from the small bowel.


Cardiomegaly

description: Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.


name: Elevated urinary 3-hydroxyadipic acid level

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


EEG with occipital sharp waves

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


central nervous system vasculitis

description: Vasculitis affecting the blood vessels of the brain and/or spinal cord.


Motor delay

description: A type of Developmental delay characterized by a delay in acquiring motor skills.


Axillary apocrine gland hypoplasia

description: Developmental hypoplasia of the apocrine sweat glands in the region of the axilla.


Abnormal antral follicle count

description: Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve.


tracheal disorder

description: A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma.


hemorrhagic disease

description: Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders).


true hermaphroditism

description: A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia.


apodia

description: The total absence of the foot, with no bony elements distal to the tibia or fibula.


name: Focal impaired awareness cognitive seizure with illusion

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


Intramural intestinal gas

description: The presence of extraluminal gas within the bowel wall.


name: Focal impaired awareness emotional seizure with agitation

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


name: Abnormal CSF homocarnosine concentration

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


complement component 4b deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene.


Abnormal CSF neopterin concentration

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


Third heart sound

description: The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients.


Acute aspiration pneumonia

description: An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.


Elevated urinary vanillylmandelic acid

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


Angiokeratoma circumscriptum naeviforme

description: A type of angiokeratoma that typically presents in childhood as a large, mostly linear and unilateral hyperkeratotic plaque which is composed of confluent keratotic papules. The size ranges from a few centimeters up to a major part of the body surface. Initially the lesions present asa multile reddish macules, clinically similar to a nevus flammeus. Within several years they develop into acanthokeratotic papules that agrregate into plaques which may have a hyperkeratotic surface.


name: Abnormal circulating 7-dehydrocholesterol concentration

description: Concentration of 7-dehydrocholesterol in the blood circulation outside the limits of normal.


Polyembolokoilamania

description: Habitual insertion of foreign bodies into bodily orifices.


Kidney teratoma

description: A teratoma located in a kidney.


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


Abnormal facial vein morphology

description: An abnormality of a facial vein.


Absent second fingernail

description: Absence of the fingernail of the index (second) finger.


Severe periodontitis

description: A severe form of periodontitis.


Enlarged sylvian cistern

description: An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure).


name: continuous spikes and waves during sleep

description: Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.


Pulsatile tinnitus

description: Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation.


Joint stiffness

description: Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.


Elevated urinary epinephrine level

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


name: Abnormal arcuate vein intima/media morphology

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


delirium

description: A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)


Dilated ejaculatory duct

description: Increase in diameter of the ejeculatory duct. The ejaculatory duct delivers sperm into the urethra, adding secretions from the prostate and is formed by the union of the vas deferens with the duct of the seminal vesicle.


Crazy paving pattern

description: The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia.


Bipartite calcaneus

description: A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification.


Interhemispheric cyst

description: Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system.


Therapeutic abortion

description: Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice.


Intestinal inflammation

description: A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract.


Dermal sinus tract

description: A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region.


Elevated urine acetoacetic acid level

description: Elevated amount of acetoacetic acid in the urine.


Paradoxical embolism

description: Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation.


Aplasia of the tarsal bones

description: Absence of the tarsal bones.


3-5 toe syndactyly

description: Syndactyly with fusion of toes three to five.


odontoma

description: A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported.


Osteoporotic tarsals

description: Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


Long-tract signs

description: Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions.


name: Abnormal interlobular vein intima/media morphology

description: Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney.


Paraspinal 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 adjacent to the spine, i.e., in a location that is normally occupied by muscles, ligaments, nerves, and other tissues that run alongside the spinal column.


Reduced frequency of facial expressions

description: The number of times facial expressions are produced in a given period is lower than expected given the social and cultural context.


Linear nevus sebaceous

description: A type of nevus sebaceous with a linear form, raised borders and yellowish color.


ossifying fibroma

description: A well circumscribed lesion of the bone, most frequently arising from the posterior mandible. It is characterized by the presence of fibrous tissue and a mineralized component which may be woven bone, lamellar bone, or cementum-like material. Complete removal is recommended, since it continues to enlarge if left untreated.


Abnormal large intestine physiology

description: A functional anomaly of the large intestine.


description: A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids.


Hypocalcification of dental enamel

description: A form of hypomineralization of enamel characterized by reduced calcification.


Sleep terror

description: Episodes of intense fear, screaming, and flailing occur even though the affected individuals are still asleep.


alexia

description: A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases.


name: Elevated circulating acylcarnitine concentration

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


kidney papillary necrosis

description: A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure.


Stratum basale cleavage

description: Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis.


stereotypic movement disorder

description: Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994)


Dark urine

description: An abnormal dark color of the urine.


name: Small intestinal intraepithelial lymphocytosis

description: The count of lymphocytes located in the epithelial layer of the mucosa of the small intestine is above the upper limit of normal.


Primary obstructive megaureter

description: Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction.


Focal cortical dysplasia type IIIb

description: A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor.