name: Focal impaired awareness sexual 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 involuntary sexual behavior at onset.


Folate deficiency in CSF

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

description: A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid.


name: Glomerular basement membrane electron dense deposits

description: Electron-dense deposits in the lamina densa with a ribbon or a sausage structure.


Abnormality of the outer ear

description: An abnormality of the external ear.


Impaired urinary acidification

description: The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect.


Unilateral vocal cord paresis

description: Decreased strength of the vocal fold on one side.


Abnormal limb bone morphology

description: Any abnormality of bones of the arms or legs.


name: Triangular shaped phalanges of the 3rd toe


Enlarged sperm head vacuole

description: Increased size of sperm vacuoles, which are surface concavities typically located at the the tip or middle area of sperm heads. According to the WHO Laboratory Manual for the Examination and Processing of Human Semen, sperm head vacuoles are considered abnormal when exceeding 20% of the cross-sectional area of the head. Vacuoles are found in almost all samples with normal sperm morphology; this term applies if the proportion of sperm with abnormally large vacuoles is above the upper limit of normal.


Conical mandibular incisor

description: An abnormal conical morphology of the primary or permanent mandibular incisors.


Overvalued idea

description: An unreasonable and an isolated sustained belief that is maintained with less than delusional intensity (i.e. the person is able is to acknowledge the possibility that the belief may or may not be true). The belief is not of one that is ordinarily accepted by other members of the person's culture or sub-culture.


Carnitinuria

description: An elevated level of carnitine in the urine.


Horseshoe kidney

description: A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.


Aplasia/Hypoplasia of the tarsal bones

description: Absence or underdevelopment of the tarsal bones.


X-linked calvarial hyperostosis

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

description: Excessive growth of the calvaria.


arthrogryposis multiplex congenita

description: Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.


Abnormal liver sonography

description: An abnormal appearance of the liver or any of its components on sonography (ultrasound).


Non-obstructive azoospermia

description: Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.


Abnormality of immune system physiology

description: A functional abnormality of the immune system.


Agenesis of mandibular premolar

description: Agenesis of mandibular premolar.


Periodic limb movements

description: Repetitive limb movements during sleep can affect the quality of your sleep.


Decreased plasma total carnitine

description: A decreased concentration of total carnitine in the blood.


Fractured patella

description: A partial or complete breakage of the patella.


Abnormal ventriculoarterial connection

description: An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta.


Ivory epiphyses of the 4th toe

description: Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


Disturbed sensory perception

description: Alteration or impairment in the processing or interpretation of sensory information can lead to abnormal perceptions or experiences.


name: Increased circulating troponin T concentration

description: An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.


pleomorphic xanthoastrocytoma

description: A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults.


Abnormal pinna morphology

description: An abnormality of the pinna, which is also referred to as the auricle or external ear.


Olfactory hallucination

description: Perception of smell without olfactory stimulus.


name: Abnormal urinary electrolyte concentration

description: An abnormality in the concentration of electrolytes in the urine.


Abnormal iliac artery morphology

description: Any structural anomaly of the iliac artery.


Nasogastric tube feeding in infancy

description: Feeding problem necessitating nasogastric tube feeding.


Renal tubular epithelial cell casts

description: A type of cellular urinary cast composed of renal tubular epithelial cells.


name: Abnormal enteric nervous system morphology

description: A structural anomaly of nerves of the enteric nervous system.


pilonidal sinus

description: A hair-containing cyst or sinus, occurring chiefly in the coccygeal region.


name: Fixed splitting of the second heart sound

description: Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration.


name: Abnormal glomerular parietal epithelial cell morphology

description: Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole.


name: Decreased size of nasopharyngeal adenoids

description: An abnormal decrease in the size of nasopharyngeal adenoids.


name: congenital anomalies of kidney and urinary tract 2

description: Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene.


name: Abnormal tricuspid valve leaflet morphology

description: Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve.


Abnormal fetal skin morphology

description: Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.


Illusions due to affect

description: Perceptual distortions or misinterpretations of sensory information arise as a result of the individual's emotional or affective state.


name: Elevated circulating C4 acylcarnitine concentration

description: Concentration of C4 acylcarnitines in the blood circulation above the upper limit of normal. C4 acylcarnitines have a four-carbon acyl chain.


Abnormality of hair pigmentation

description: An abnormality of hair pigmentation (color).


Delayed eruption of teeth

description: Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.


Chronic monilial nail infection

description: Chronic infection of the nails by Candida species.


Carotid artery dilatation

description: A dilatation (balooning or bulging out of the vessel wall) of a carotid artery.


Arcuate artery lumen cholesterol emboli

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


Abnormal CSF lysine concentration

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


Reduced brain choline level by MRS

description: An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).


cardiogenic shock

description: A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels.


Reticular hyperpigmentation

description: Increased pigmentation of the skin with a netlike (reticular) pattern.


name: Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines


name: Punctate periventricular T2 hyperintense foci

description: Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter.


Erythema migrans

description: An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter).


Abnormal cerebellum morphology

description: Any structural abnormality of the cerebellum.


polymicrogyria

description: A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction.


Elevated urinary glyoxylic acid level

description: The amount of glyoxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. The conjugate base of glyoxylic acid is known as glyoxylate.


2-hydroxyadipic aciduria

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


Abnormal celiac artery morphology

description: An anomaly of the celiac artery.


name: Pseudoepiphysis of the proximal phalanx of the hallux

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 big toe.


Palmar edema

description: An abnormal accumulation of fluid beneath the skin on the palm of the hand.


Interlobular vein intima/media necrosis

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


Elevated myocardial native T1

description: Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity.


kidney neoplasm

description: A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma.


name: Osteolytic defects of the phalanges of the 4th toe


Lacunar stroke

description: A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain.


Endogenous lipoid pneumonia

description: A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace.


name: Elevated CSF dihydrothymine concentration

description: The concentration of dihydrothymine in the cerebrospinal fluid is above the upper limit of normal.


Lymph node necrosis

description: Areas of necrotic tissue within a lymph node.


incisors, lower central, absence of

description: Agenesis of lower secondary incisor or lower primary incisor.


Pleomorphic cholangitis

description: Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree.


Cystic artery pseudoaneurysm

description: Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue.


embryonal rhabdomyosarcoma

description: A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.


name: Reduced epidermal collagen IV protein expression


teeth present at birth

description: A tooth present at birth or erupting within the first month of life.


Abnormal anatomic location of the heart

description: Developmental defect characterized by an anomalous anatomic location of the heart.


orotic aciduria

description: An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.


carotid stenosis

description: A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents.


congenital microgastria

description: Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies.


Bicuspid pulmonary valve

description: The presence of a bicuspid pulmonary valve.


spermatic cord torsion

description: An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue.


Erosion of oral mucosa

description: Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion.


name: Diffuse swelling of cerebral white matter


Fetal anomaly

description: Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate.


Sydney crease

description: Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm.


Profound hearing impairment

description: A profound (essentially complete) form of hearing impairment.


dermatitis

description: An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis.


West syndrome

description: West syndrome (or infantile spasms) is characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.


rickets

description: Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities.


Focal aware emotional seizure

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


His bundle tachycardia

description: His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality.


name: Pulmonary interstitial high-resolution computed tomography abnormality

description: High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities.


name: Cellular non-specific interstitial pneumonia

description: A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia.


Addictive stimulant use

description: Addiction to a stimulant drug is defined as a drug that typically increases alertness, attention, and energy while also elevating blood pressure, heart rate, and breathing.


Eruptive vellus hair cyst

description: A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge.


Moderate generalized osteoporosis

description: Moderate osteoporosis.


Organic aciduria

description: Excretion of non-amino organic acids in urine.


Abnormal urine phosphate concentration

description: An abnormal phosphate concentration in the urine.


name: Elevated CSF D-2-hydroxyglutaric acid concentration

description: The concentration of D-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Increased level of ribitol in urine

description: An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose.


name: Renal cortical interstitial inflammation

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


Abnormality of the vasculature

description: An abnormality of the vasculature.


embryonal neoplasm

description: A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003


Pareidolia

description: Apophenia is a psychological phenomenon in which individuals perceive familiar patterns or meaningful images in random or ambiguous stimuli, such as clouds, shadows, or inanimate objects.


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

description: A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


Central cyanosis

description: Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin.


renal dysplasia, bilateral

description: Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.


Global brain atrophy

description: Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.


Subjective eidetic images

description: A mental phenomenon is when an individual can vividly visualize or recall visual information from memory with exceptional detail and accuracy. These images are experienced subjectively by the individual, meaning they are not physically present or visible to others.


Furuncle

description: An infection of a hair follicle that extends subcutaneously, forming an abscess.


Renal lymphangiectasia

description: A developmental anomaly of renal lymphatics that results from a failure of the lymphatics to make communication with the rest of the lymph trunks. The abnormal lymphatics thus dilate and form cystic spaces at the renal sinus and in the perinephric space.


description: Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole.


Bilobate gallbladder

description: The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium.


Nail bed hemorrhage

description: Small areas of bleeding (hemorrhage) under the fingernail or toenail.


Episodic paroxysmal anxiety

description: Recurrent attacks of severe anxiety, which occur without restriction to any particular situation or set of circumstances, are therefore unpredictable.


Ambiguous atrioventricular connection

description: With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle).


dyscalculia

description: A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties.


name: Abnormal small intestinal mucosa morphology

description: A structural anomaly of the mucous lining of the small intestine.


name: Aplasia cutis congenita over posterior parietal area


Maternal seizure

description: A seizure during pregnancy.


Pulmonary perfusion defect

description: Lack of blood perfusion in a specific area of the lung. Pulmonary ventilation (V) and Perfusion (Q) scan, also known as lung V/Q scan, is a nuclear test that uses the perfusion scan to delineate the blood flow distribution and the ventilation scan to measure airflow distribution in the lungs.


Decreased urinary uromodulin level

description: The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for urine concentration, is below the lower limit of normal.


name: Abnormal intestinal smooth muscle morphology

description: A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine.


iniencephaly

description: Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.


Elevated urine mesaconic acid level

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


name: Aplasia/Hypoplasia of the palmar creases

description: Absence or underdevelopment of the palmar creases.


name: Elevated circulating desmosterol concentration

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


Left axis deviation

description: A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees.


tinea unguium

description: A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds.


bilateral generalized polymicrogyria

description: Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.


Pulmonary artery atresia

description: A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.


name: Reduced intraepidermal small nerve fiber density

description: Reduced number of small nerve fibers in the skin.


name: Decreased circulating chylomicron concentration

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


Absent thumbnail

description: Absence of thumb nail.


Short proximal phalanx of toe

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


choriocarcinoma

description: An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.


Ectopic calcification

description: Deposition of calcium salts in a tissue or location in which calcification does not normally occur.


Facial telangiectasia

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


Abnormality of somatic nerve plexus

description: Any abnormality of the somatic nerve plexus.


name: Abnormal circulating cholesterol concentration

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


Amyloidosis of peripheral nerves

description: The presence of amyloid deposition in the nerves of the peripheral nervous system.


name: Decreased circulating dehydroepiandrosterone concentration


neuroma

description: A tumor that grows from a nerve or is composed of nerve cells and nerve fibers.


Onychomadesis

description: Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth.


Abnormal conus terminalis morphology

description: Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae).


Lymph node abscess

description: An inflamed lymph node that is filled with pus.


Facial synkinesis

description: Unintentional movement in one area of the face produced during intentional movement of another area of the face.


name: Cholesterol emboli within interlobular vein lumen

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


benign cystic nephroma

description: A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid.


Renal atrophy

description: Atrophy of the kidney.


Generalized abnormality of skin

description: An abnormality of the skin that is not localized to any one particular region.


Impaired vibration sensation at ankles

description: A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.


Panacinar emphysema

description: Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis.


Increased urinary polyhexose

description: An abnormal increase in the concentration of polyhexose in the urine.


name: EEG with photoparoxysmal response grade I

description: Occurrence of epileptiform discharges in occipital regions during photic stimulation.


Social disinhibition

description: A tendency to violate social norms because of a failure to resist temptations or urges in social settings.


name: Endopolyploidy on chromosome studies of bone marrow

description: An increase in the number of chromosome sets per cell in bone marrow cells.


Thalamic edema

description: Swelling within the thalamus due to the accumulation of fluid.


Restrictive behavior

description: Behavior characterized by an abnormal limitation to a few interests and activities.


Neonatal hypotonia

description: Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.


name: Delayed early-childhood social milestone development

description: A failure to meet one or more age-related milestones of social behavior.


Abnormal gastrointestinal transit time

description: A deviation from the normal amount of time required for food to pass through the intestines.


Abnormal stool composition

description: Abnormal level of metabolite or other abnormal analyte result in a stool test.


Brachioradialis hyperreflexia

description: Increased intensity of the brachioradialis reflex.


Ivory epiphyses of the 3rd toe

description: Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


Abnormal neck blood vessel morphology

description: An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck.


name: Thickened glomerular basement membranes with electron dense deposits


Myeloschisis

description: The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane.


Confusion

description: Lack of clarity and coherence of thought, perception, understanding, or action.


Absent cremaster reflex

description: Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex.


Palate telangiectasia

description: The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.


Oral cavity telangiectasia

description: Presence of telangiectases in the oral cavity.


name: Mosaic attenuation pattern on pulmonary HRCT

description: A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography.


Truncal titubation

description: Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.


syndromic agammaglobulinemia

description: A agammaglobulinemia that is part of a larger syndrome.


Decreased circulating progesterone

description: An reduced concentration of progesterone in the blood.


Abnormal vas deferens morphology

description: A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct.


Polysplenia

description: Polysplenia is a congenital disease manifested by multiple small accessory spleens.


Intestinal lymphoid nodular hyperplasia

description: A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine.


Macrovesicular hepatic steatosis

description: A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.


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


name: Glomerular amyloid subepithelial deposits

description: A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Small pituitary gland

description: An abnormally decreased size of the pituitary gland.


Abnormal lingual artery morphology

description: Any structural abnormality of a lingual artery.


atransferrinemia

description: Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.


Myelin tomacula

description: The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).


name: Granulomatous arteriolitis of the arteriolar intima/media

description: A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.


Visceral epithelial cell hyperplasia

description: Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium.


Agenesis of first permanent molar tooth

description: Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both.


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

description: A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure.


Bacterial cell casts

description: A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection.


name: spondyloepimetaphyseal dysplasia, Strudwick type

description: A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).


Reduced cooperative play

description: Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5.


Gastrointestinal duplication

description: A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus.


name: Abnormal morphology of the proximal phalanx of the 3rd toe

description: An anomaly of the proximal phalanx of third toe.


Pulmonary capillary angioectasia

description: Focal accumulation of dilated pulmonary capillaries.


Dysphonia

description: Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.


Glomerular proteinuria

description: A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin.


trichotillomania

description: A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair.


Dagger-shaped pulp calcifications

description: Dagger-shaped calcifications in the dental pulp.


Kommerell diverticulum

description: Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.


Metastatic angiosarcoma

description: An angiosarcoma that has spread to another anatomical site.


Medium vessel vasculitis

description: A type of vasculitis (inflammation of blood vessel walls) that affects medium-sized blood vessels. By common usage, vasculitis predominantly refers to arterial disease. Medium-sized vasculitis is observed in diseases including polyarteritis nodosa, Kawasaki disease, and cutaneous polyarteritis nodosa.


Tachyphagia

description: Excessively rapid eating of food.


polydactyly

description: A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms.


alobar holoprosencephaly

description: Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure.


name: Segmentally thickened glomerular basement membrane

description: Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.


name: Glomerular parietal epithelial cell hyperplasia

description: Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering.


acute promyelocytic leukemia

description: An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.


name: Abnormal cellular immune system morphology

description: An abnormality of the morphology or counts of the cells that make up the immune system.


Abnormal coronary artery origin

description: Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.


Visual sensory seeking

description: Pursuit visual stimulation by looking at specific sights, images, and/or colors that is abnormal in intensity and/or frequency.


name: Focal cognitive seizure with memory impairment

description: A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia).


osteopetrosis

description: Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.


name: Nodular septal thickening on pulmonary HRCT

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


Impaired proprioception

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


name: Sclerosis of the middle phalanx of the 4th toe


Hepatopulmonary fusion

description: Fusion of the liver with the lung.


Vaginal hernia

description: The presence of a hernia of the vagina.


regional odontodysplasia

description: Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues.


Abnormal hip bone morphology

description: An abnormality of the hip bone.


name: Abnormal autonomic nervous system morphology

description: A structural abnormality of the autonomic nervous system.


name: Focal cognitive seizure with dissociation

description: A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation.


Widened cerebral subarachnoid space

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


Middle cerebral artery stenosis

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


Hypopigmented genitalia

description: Localized or generalized decreased genital pigmentation.


Distal sensory impairment

description: An abnormal reduction in sensation in the distal portions of the extremities.


hypogonadotropic hypogonadism

description: Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.


Restlessness

description: A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior.


Elevated CSF fumarate concentration

description: An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid.


Renal interstitial hemosiderin

description: Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney.


Sclerosis of hallux phalanx

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


Recurrent bronchiolitis

description: An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.


lipoma

description: A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue.


Objectification of others

description: A tendency to interact with others as if they are objects with functional purpose rather than engaging in social/emotional interactions.


name: Pseudoepiphysis of the proximal phalanx of the 2nd 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 second toe.


Intercrural pterygium

description: A pterygium (or pterygia) in the intercrural (groin) region.


Absent facial hair

description: Absence of facial hair.


Recurrent urinary tract infections

description: Repeated infections of the urinary tract.


name: Increased urine hexacarboxylporphyrin level

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


Abnormal muscle physiology

description: A functional abnormality of a skeletal muscle.


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


Ovotestis

description: A gonad that contains both ovarian follicles and testicular tubular elements.


Phantosmia

description: Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor.


name: Elevated circulating methylmalonylcarnitine concentration

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


Bullet-shaped distal toe phalanx

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


2,8-dihydroxyadenine crystalluria

description: The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals.


name: Coarctation of the descending aortic arch

description: Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.


Podocyte myelin figures

description: Lamellated intracytoplasmic lipid inclusions within podocytes.


Spontaneous pain sensation

description: Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.


Abnormal bone structure

description: Any anomaly in the composite material or the layered arrangement of the bony skeleton.


Spastic tetraparesis

description: Spastic weakness affecting all four limbs.


Increased CSF ribose concentration

description: The concentration of ribose in the cerebrospinal fluid is above the upper limit of normal.


Hyperuricosuria

description: An abnormally high level of uric acid in the urine.


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


name: Increased amyloid beta 40 peptide CSF concentration

description: An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF).


Bloody diarrhea

description: Passage of many stools containing blood.


Small basal ganglia

description: Decreased size of the basal ganglia.


Coma

description: The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.


Papillary cystadenoma of the epididymis

description: A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.


Elevated urinary deoxyuridine level

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


Renal arteriole medial atrophy

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


Generalized-onset epileptic spasm

description: A type of epileptic spasm of generalized onset.


Punding

description: Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects.


Frontalis muscle weakness

description: Reduced strength of the frontalis muscle (which is located on the forehead).


name: seizures-intellectual disability due to hydroxylysinuria syndrome

description: Seizures-intellectual disability due to hydroxylysinuria syndrome is characterized by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.


Addictive sex behavior

description: Inability to control or manage sexual urges, fantasies, or behaviors that impair one's ability to function.


name: Aplasia/hypoplasia of the proximal phalanx of the 3rd toe

description: Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe.


Celiac artery dissection

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


name: Increased circulating arachidonic acid concentration

description: An increased circulation of arachidonic acid in the blood circulation.


Vaginal atresia

description: Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.


Urinary bladder neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) located in the urinary bladder.


Abnormal fourth toe morphology

description: An anomaly of the fourth toe.


Severe expressive language delay

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


name: Right aortic arch with retroesophageal diverticulum of Kommerell

description: Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch.


Aplasia of the bladder

description: Aplasia (absence) of the urinary bladder.


name: Abnormal large intestinal mucosa morphology

description: A structural anomaly of the mucous lining of the large intestine.


name: Cortical radial artery medial/intimal arteriitis

description: Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney.


name: Increased pulmonary capillary wedge pressure

description: Pulmonary capillary wedge pressure (PCWP) above 15mmHg.


name: Focal hypointensity of cerebral white matter on MRI


name: Elevated circulating hexacosanoic acid concentration

description: Elevated concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation.


name: Focal aware emotional seizure with laughing

description: Focal emotional seizure with laughing in which awareness is retained throughout.


Moderate receptive language delay

description: A moderate delay in the acquisition of the ability to understand the speech of others.


Common atrium

description: Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.


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


topographical agnosia

description: An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognize objects.


Neurodevelopmental delay

description: Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.


Calcaneovalgus deformity

description: This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).


spasmodic dystonia

description: A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx.


Bile duct proliferation

description: Proliferative changes of the bile ducts.


Persistent falcine venous sinus

description: A falcine sinus that does not involute but persists beyond birth is defined as a persistent falcine sinus. In the 20-mm embryo stage, the primitive falx cerebri contains the sagittal plexus, a meshwork of anastomotic venous channels from which the superior sagittal sinus and straight sinus are thought to develop. A persistent falcine sinus represents a persistent channel of the caudal anastomotic loops of the sagittal plexus.


specific learning disability

description: Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)


colpocephaly

description: Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.


Bent sperm neck

description: Sharply angled insertion of the neck and midpiece into the head of a spermatozoon. This term applies if the proportion of spermatozoa with this feature is above the upper limit of normal.


scapuloperoneal myopathy

description: A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.


Primary microcephaly

description: Head circumference below 2 standard deviations below the mean for age and gender at birth.


odontogenic neoplasm

description: A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain.


Glabellar reflex

description: A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign.


name: Left superior vena cava draining to coronary sinus

description: A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence.


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


name: Complete duplication of the proximal phalanx of the 4th toe


Gastric hypertrophy

description: Hypertrophy of the stomach.


name: EEG with generalized polymorphic epileptiform discharges

description: Generalized epileptiform discharges of different shapes and frequencies.


name: hypothyroidism, congenital, nongoitrous, 2

description: A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.


Dyssynergia

description: A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts.


Decreased circulating 12-HETE

description: A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid.


Mesangial Immune complex deposition

description: Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit.


Absent lanugo

description: Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby.


name: Failure to elevate ammonia on ischemic exercise

description: Normal subjects display an increase in the concentration of ammonia in the blood following an ischemic exercise test. This term refers to an increase in ammonia that is below the lower limit of normal.


Emotional lability

description: Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.


name: Anomalous origin of the left anterior descending artery from the pulmonary artery

description: The left anterior descending artery (LAD) branches off from the pulmonary artery.


name: Duplication of the phalanges of the 2nd toe

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


name: Focal impaired awareness sensory seizure with auditory features

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


Focal aware hyperkinetic seizure

description: A type of focal hypermotor seizure during which awareness is fully retained throughout.


Intrahepatic bile duct cysts

description: The presence of cyst of the intrahepatic bile duct.


Enhancement of the C-reflex

description: Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.


adrenal gland disorder

description: A disease involving the adrenal gland.


name: central nervous system primitive neuroectodermal neoplasm

description: A neuroectodermal tumor that involves the central nervous system.


Abnormal pulmonary valve physiology

description: Any functional anomaly of the pumonary valve.


Nervous tissue neoplasm

description: A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).


Abnormal hippocampus morphology

description: Any structural anomaly of the hippocampus,


Abnormal ankle morphology

description: A structural anomaly of the ankle.


Urethral valve

description: The presence of an abnormal membrane obstructing the urethra.


Supernumerary spleens

description: The presence of two or more accessory spleens.


Confusional arousal

description: A nocturnal episode is characterized by disorientation, grogginess, and, at times, significant agitation upon awakening from slow-wave sleep or following forced awakenings.


name: Medullary peritubular capillary erythrocyte congestion

description: Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open).


Elevated brain glutamine level by MRS

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


Short sperm flagella

description: Sperm cells with abnormally short flagella.


Abnormality of toe proximal phalanx

description: A morphological anomaly of one or more proximal phalanges of one or more toes.


Prolonged bleeding time

description: Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.


name: Cleavage at junction of stratum corneum and stratum granulosum

description: Splitting of the skin (cell-cell adhesion of keratinocytes) localized to the interface between the stratum corneum and stratum granulosum layers of the epidermis.


Moderate to late preterm birth

description: Birth at 32 to 36 completed weeks of gestation.


name: Bilateral symmetric neonatal sequential seizure

description: Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs.


Abnormal peristalsis

description: An anomaly of the wave-like muscle contractions of the digestive tract.


encephalomalacia

description: Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation.


Multifocal splenic abscess

description: Multiple abscess lesions in the spleen.


name: EEG with spike-wave complexes (2.5-3.5 Hz)

description: The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).


Libman-Sacks lesions

description: Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve.


Discolored lateral incisors

description: The presence of discolored lateral incisors.


name: Focal cognitive seizure with deja vu/jamais vu

description: A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.


Short middle phalanx of the 4th toe

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


Pseudobulbar signs

description: Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.


name: Adult onset sensorineural hearing impairment

description: The presence of sensorineural deafness with late onset.


Temporal lobe megalencephaly

description: Expansion of the temporal lobes of the brain along all axes, including rostrocaudal, superoinferior, and mediolateral, resulting in a globular appearance of the brain.


Face of the giant panda sign

description: The face of the giant panda sign on T2-weighted MRI is characterized by preservation of normal signal intensity in the red nuclei and lateral portion of the pars reticulata of the substantia nigra, high signal in the tegmentum, and hypointensity of the superior colliculus. The findings are said to resemble the face of a giant panda.


Focal clonic seizure

description: A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.


levocardia

description: A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation.


name: Abnormality of extrapyramidal motor function

description: A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).


name: Cortical radial artery intraluminal organized thrombi

description: Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney.


verruciform xanthoma of skin

description: A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages.


placenta accreta

description: The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize)


name: Focal epileptiform discharges with limited propagation to contralateral hemisphere

description: Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization.


eclampsia

description: A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures.


Elevated urine propionic acid level

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


name: Abnormality of the first metatarsal bone

description: An anomaly of the first metatarsal bone.


name: Decreased motor nerve conduction velocity

description: A type of decreased nerve conduction velocity that affects the motor neuron.


name: Elevated urinary N,N-dimethylglycine level

description: An increased concentration of N,N-dimethylglycine in the urine.


Abnormal lymph node cell composition

description: A deviation from the normal distribution of cell types or their relative proprotions in a lymph node.


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


choanal atresia

description: Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.


Decreased CSF histidine concentration

description: Abnormally decreased levels of histidine in cerebrospinal fluid.


Hepatic bridging fibrosis

description: Hepatic fibrosis that reaches from a portal area to another portal area.


Reduced CSF dopamine concentration

description: Decreased concentration of dopamine in the cerebrospinal fluid (CSF).


Pulmonary venous hypertension

description: An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.


Happy demeanor

description: A conspicuously happy disposition, characterized by frequent smiling and laughing, which may be contextually inappropriate or unrelated to the situation.


Abnormality of B cell physiology

description: An abnormality of the physiological functioning of B cells.


name: Elevated circulating 3-hydroxybutyryl-carnitine concentration

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


name: Abnormal synaptic transmission at the neuromuscular junction

description: Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.


Fulminant hepatic failure

description: Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.


brachydactyly type A4

description: Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit.


Jaw claudication

description: Pain in the jaw or ear induced by chewing or otherwise moving the jaw.


Abnormal spinal meningeal morphology

description: Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord.


Cellular crescent

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


Cerebral venous thrombosis

description: Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.


Chronic furunculosis

description: A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection.


EEG with frontal focal spike waves

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


Increased urine succinate level

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


Recurrent infections

description: Increased susceptibility to infections.


Renal interstitial hemorrhage

description: A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core.


name: Cone-shaped epiphysis of the proximal phalanx of the hallux


name: Shortening of all distal phalanges of the toes

description: Abnormally short distal phalanx of toe of all toes.


name: supratentorial primitive neuroectodermal tumor

description: A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region.


Pituitary calcification

description: Deposition of calcium salts in the pituitary gland.


Vaginal pruritus

description: A sensation of itching in the vagina.


Abnormality of the lower urinary tract

description: An abnormality of the lower urinary tract.


name: Aplasia cutis congenita over the scalp vertex

description: A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.


Mallory-Weiss syndrome

description: A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics.


Distal peripheral sensory neuropathy

description: Peripheral sensory neuropathy affecting primarily distal sensation.


name: EEG with parietal epileptiform discharges

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


herpes simplex encephalitis

description: Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.


Ureteral atresia

description: A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.


Brain xanthomatosis

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


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

description: An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure.


Atelectasis

description: Collapse of part of a lung associated with absence of inflation (air) of that part.


Abnormal oral mucosa morphology

description: Abnormality of the oral mucosa.


Tiger tail banding

description: An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding.


Fractured lumbar vertebra

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


Eating-induced seizure

description: A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period.


name: Focal aware sensory seizure with vestibular features

description: A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation.


Abnormal cortical gyration

description: An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.


Clinodactyly of the 4th toe

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


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


Cerebral inclusion bodies

description: Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain.


Bilateral conductive hearing impairment

description: A bilateral type of conductive hearing impairment.


Double aortic arch

description: A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).


hydrocephalus

description: A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain.


Nail-biting

description: Habitual biting of one's own fingernails.


Elevated urine octenedioic acid level

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


Short toe

description: A toe that appears disproportionately short compared to the foot.


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

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


Calcium phosphate nephrolithiasis

description: The presence of calcium- and phosphate-containing calculi (stones) in the kidneys.


cervical incompetence

description: A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis.


Muscular subvalvular aortic stenosis

description: A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.


name: Sclerosis of the proximal phalanx of the 4th toe


Abnormal tricuspid valve physiology

description: Any functional defect of the tricuspid valve.


Complete cleft hard palate

description: Cleft hard palate in which the cleft goes through the entire length of the hard palate, ie. from the incisor foramen to the anterior border of the soft palate.


name: Elevated urinary monocarboxylic acid level

description: Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group.


Persistent fever

description: Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks.


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


Split nail

description: A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.


Curved distal phalanx of the 3rd toe

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


Abnormality of artery of lower lip

description: An abnormality of an artery of lower lip.


Myoclonic tremor

description: A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures.


Aplasia of the fallopian tube

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


name: Supracardiac total anomalous pulmonary venous connection

description: Type 1 total anomalous pulmonary venous connection.


name: Gonadal dysgenesis with female appearance, male

description: Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.


pseudohypoparathyroidism

description: Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP).


Abnormal HDL3c concentration

description: Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.


Splenic rupture

description: A breach of the capsule of the spleen.


Autonomic epileptic aura

description: An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region.


Urinary bladder sphincter dysfunction

description: Abnormal function of a sphincter of the urinary bladder.


Abnormal fear-induced behavior

description: An abnormal fear-induced behavior includes observable actions. This behavior is characterized by abnormal responses to fear or abnormal fear levels. Examples of such behavior include avoiding fear-inducing situations.


Homocitrullinuria

description: An increased amount of L-homocitrulline in the urine. L-homocitrulline is an L-lysine derivative that is L-lysine having a carbamoyl group at the N(6)-position. It is found in individuals with urea cycle disorders.


Oropharyngeal squamous papilloma

description: A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus].


Small intestinal perforation

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


Cervical spinal canal stenosis

description: An abnormal narrowing of the cervical spinal canal.


Hypermobility of toe joints

description: An ability of the toe joints to move beyond their normal range of motion.


Small intestinal polyposis

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


Reduced brain glutamine level by MRS

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


name: Chronic disseminated intravascular coagulation

description: A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced.


pyromania

description: A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting.


Abnormality of the respiratory system

description: An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.


Refractory status epilepticus

description: Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine.


Prominent scrotal raphe

description: Increased size of the ridge of tissue that extends along the midline of the scrotum.


autosomal dominant prognathism

description: Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion).


Spoken word recognition deficit

description: Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus.


Myocardial fibrosis

description: Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.


Hemiparesis

description: Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.


Periventricular ribbonlike heterotopia

description: Heterotopia that forms a continuous wavy line along the ventricular wall.


Inflammatory cap polyp

description: A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp.


name: Abnormal fetal cardiovascular physiology

description: Abnormal functionality of the fetal cardiovascular system.


inherited torticollis

description: A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation.


Fibro-obliterative bile-duct lesion

description: A condition in which the lumen of a bile duct has been filled by fibrous scar material, in effect replacing the bile duct with a fibrous scar.


Atypical absence seizure

description: An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.


Abnormal urine urobilinogen level

description: An abnormal concentration of urobilinogen in the urine.


Abnormal dental morphology

description: An abnormality of the morphology of the tooth.


brain ischemia

description: Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage.


Pulmonary paraglioma

description: A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells.


46,XY complete gonadal dysgenesis

description: 46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.


Bruxism during sleep

description: Bruxism is a condition in which you grind, gnash, or clench your teeth while asleep.


Intranuclear cardiomyocyte mitochondria

description: Abnormal localization of mitochondria within the nuclei of cardiomyocytes.


Postcoital vaginal bleeding

description: Postcoital bleeding (PCB) consists of spotting or bleeding after sexual intercourse that is not related to a person's menstrual cycle.


Pulsus paradoxus

description: Pulsus paradoxus refers to a systolic pressure drop greater than 10mmHg during inspiration.


Abnormal immunoglobulin level

description: An abnormal deviation from normal levels of immunoglobulins in blood.


name: Intermediate atrioventricular canal defect

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


Perinuclear cardiomyocyte vacuolization

description: Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart.


Slow-growing scalp hair

description: Scalp hair whose growth is slower than normal.


Abnormality of the biliary system

description: An abnormality of the biliary system.


name: Tetralogy of Fallot with pulmonary atresia

description: An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries.


name: Elevated urinary 3-hydroxyisobutyric acid level

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


Infantile hydrocele

description: Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation.


Brain abscess

description: A collection of pus, immune cells, and other material in the brain.


Obstructive shock

description: A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism).


name: Impaired renal tubular reabsorption of magnesium

description: Decreased renal tubular reabsorption of magnesium.


Short dental root

description: Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length.


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


Tetraplegia/tetraparesis

description: Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.


name: Elevated circulating tiglylcarnitine concentration

description: Concentration of tiglylcarnitine (C5:1) in the blood circulation above the upper limit of normal.


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


Abnormal dental pulp morphology

description: An abnormality of the dental pulp.


name: Complete duplication of the proximal phalanx of the hallux

description: Complete duplication of the proximal phalanx of big toe.


pituitary hypoplasia

description: Incomplete development of the pituitary gland.


EEG with frontal sharp waves

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


IgE responsiveness, atopic

description: Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue.


name: Bilateral tonic-clonic seizure on awakening

description: Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day).


Leucinuria

description: Increased level of leucine in urine.


Hydrometrocolpos

description: Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.


Partial anosmia

description: Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).


Short first metatarsal

description: Short first metatarsal bone.


name: Elevated urine 4-hydroxyisovaleric acid level

description: Amount of 4-hydroxyisovaleric acid in urine above upper limit of normal.


Non-glucose reducing substance in urine

description: Abnormal result for this screening test for urinary reducing substances including glucose, fructose, galactose, lactose, pentose and maltose, as well as amino acids, cysteine, tyrosine, homogentisic acid, ketone bodies, ascorbic acid and many drugs. This term is applied if the urine stick test for glucose was negative (normal).


diabetes insipidus

description: A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related.


Aortic rupture

description: Tearing of the aortic wall generally associated with profuse internal bleeding.


ST segment elevation

description: An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.


name: Glomerular capillary wall duplication with cellular interposition

description: Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.


name: Increased circulating dehydroepiandrosterone-sulfate concentration

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


Fragile nails

description: Nails that easily break.


name: Abnormal CSF N-acetylaspartic acid concentration

description: Any deviation from the normal concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF).


Abnormality of the immune system

description: An abnormality of the immune system.


Abnormal gallbladder morphology

description: A structural anomaly of the gallbladder.


Neoplasm of the anterior pituitary

description: A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.


Complete cleft soft palate

description: Cleft soft palate in which the cleft goes through the entire length of the soft palate, i.e. from the posterior border of the hard palate until the uvula.


Femoral neck fracture

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


Abnormal liver metabolite concentration

description: The concentration of a metabolite in the liver is above or below the limits of normal.


Absent tonsils

description: Lack of observable tonsillar tissue.


vaginal discharge

description: Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer.


Renal interstitial granulomas

description: Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present.


Gastric arteriovenous malformation

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


Delayed gross motor development

description: A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.


Isaac syndrome

description: Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.


Hepatic periportal necrosis

description: A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.


name: Complete duplication of the 1st metatarsal

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


name: Stippling of the epiphyses of the 3rd toe

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


Placidity

description: Flat affect and reduced response to emotional stimuli. Fear and anger responses that are normally present are blunted.


name: Partial diaphragmatic absence of pericardium

description: Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.


Abnormal jugular vein morphology

description: Any structural abnormality of a jugular vein.


name: Abnormality of the spinocerebellar tracts

description: An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.


Portal fibrosis

description: Fibroblast proliferation and fiber expansion from the portal areas to the lobule.


Complete breech presentation

description: A kind of breech presentation in which the hips are flexed and the knees are flexed.


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


Increased circulating mead acid level

description: An abnormally elevated concentration od mead acid in the blood circulation.


renal fibrosis

description: A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis.


Bartholin cyst

description: A fluid-filled sac near the vaginal opening. A Bartholin cyst is usually unilateral, asymptomatic blockage of the Bartholin gland, which may lead to a painless swelling.


Pulmonary hemorrhage

description: Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.


Bracket epiphysis of the 1st metatarsal

description: The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form.


Fractured distal tarsal bone 2

description: A partial or complete breakage of the distal tarsal bone 2.


Abnormal number of hair whorls

description: More than two clockwise hair whorls.


Oligomenorrhea

description: Infrequent menses (less than 6 per year or more than 35 days between cycles).