Impaired ability to organize

description: Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine.


Otitis media with effusion

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

description: Otitis media characterized by thick or sticky fluid behind the tympanic membrane.


Abdominal cramps

description: A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity.


Diffuse subcortical band heterotopia

description: Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain.


name: Patchy sclerosis of the middle phalanx of the 4th toe

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


Flushing

description: Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.


Panhypogammaglobulinemia

description: A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.


name: Sclerosis of the proximal phalanx of the thumb

description: An elevation of bone density in the proximal phalanx of the thumb.


EEG with constitutional variants

description: An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic.


rhombencephalosynapsis

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

description: Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterized by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres.


Nipple tenderness

description: Pain or discomfort produced by touching the nipple.


name: Macrodontia of permanent maxillary central incisor

description: Increased size of the maxillary central secondary incisor tooth.


name: Prolonged somatosensory evoked potentials


name: Increased circulating free fatty acid level

description: A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues.


Thenar muscle atrophy

description: Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.


Left ventricular aneurysm

description: A severely scarred portion of infarcted ventricular myocardium that does not contract normally but instead bulges outward while the rest of the ventricle contracts during systole.


name: Abnormal peripheral nerve morphology by anatomical site

description: Abnormal morphology of a specific peripheral nerve


Decreased CSF creatinine concentration

description: Concentration of creatinine in the cerebrrospinal fluid below the lower limit of normal.


name: Arcuate vein intimal/medial myxomatous degeneration

description: Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney.


Abnormal left ventricle morphology

description: Any structural abnormality of the left ventricle of the heart.


Abnormal CSF amino acid concentration

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


Hypoplastic male external genitalia

description: Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).


name: Neonatal electro-clinical seizure with behavior arrest

description: Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations.


Abnormal subclavian artery morphology

description: Any anomaly of a subclavian artery.


name: Decreased circulating prealbumin concentration

description: Concentration of prealbumin in the blood circulation below the lower limit of normal. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status.


EEG with parietal focal spikes

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


macroglossia

description: The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)


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


Quadriceps muscle weakness

description: Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).


name: Elevated circulating dodecanoylcarnitine concentration

description: Concentration of dodecanoylcarnitine (C12:0) in the blood circulation above the upper limit of normal.


Sclerosis of distal toe phalanx

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


congenital radioulnar synostosis

description: Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.


Severe B lymphocytopenia

description: A severe form of B lymphocytopenia in which the count of B cells is very low or absent.


varicocele

description: A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume.


name: Abnormal circulating sarcosine concentration

description: An deviation from the normal concentration of sarcosine in the blood circulation.


Decreased retinol-binding protein level

description: A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity.


Xanthine nephrolithiasis

description: The presence of xanthine-containing calculi (stones) in the kidneys.


Bilateral ductus arteriosus

description: The presence of both a left and a right ductus arteriosus.


Methioninuria

description: Level of methionine in urine above the upper limit of normal.


Conical primary incisor

description: An abnormal conical morphology of the primary incisor.


Alien limb phenomenon

description: Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb.


Typical atrial flutter

description: Typical atrial flutter is an organized atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative.


Abnormal cell morphology

description: Any anomaly of cell structure.


autonomic nervous system neoplasm

description: Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system.


Stress urinary incontinence

description: Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing.


name: Abnormal periventricular white matter morphology

description: A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.


Chronic decreased circulating IgD

description: A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood.


Thick pachygyria

description: Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.


Hydroxylysinemia

description: An increased concentration of hydroxylysine in the blood circulation. Hydroxylysine arises from a post-translational hydroxy modification of lysine and is unique to collagen and proteins containing collagen-like sequences. Elevated concentrations of hydroxylysine may indicate increased bone turnover.


Cerebral subcortical cyst

description: A fluid-filled sac (cyst) in the region below the cortex of the cerebrum. In magnetic resonance imaging, the fluid within the cyst has the same appearance as cerebrospinal fluid (CSF).


Anti-CARP VIII antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII).


Excessive bleeding after a venipuncture

description: An abnormal high amount of bleeding following the procedure of taking a blood sample.


Diaphyseal cortical sclerosis

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


V-sign

description: Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest.


Abnormality of the tonsils

description: An abnormality of the tonsils.


Digital ulcer

description: An open sore on the surface of the skin of a finger or toe.


Increased CSF isoleucine concentration

description: Abnormally increased levels of isoleucine in cerebrospinal fluid.


Abnormal esophagus morphology

description: A structural abnormality of the esophagus.


Mammary duct ectasia

description: A non-proliferative inflammatory disorder of the large duct (milk duct) of the breast; as such, it affects nipple and areola complex. The condition is characterized by focal dilatation of the lactiferous duct system is due to endoluminal changes, as well as the loss of duct wall elastin, leading to abnormally dilated and tortuous lactiferous ducts with associated periductal inflammation and fibrosis. Mammary duct ectasia may present with nipple discharge or palpable mass.


name: Facial telangiectasia in butterfly midface distribution

description: Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.


Chronic lung disease

description: According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.


Peripheral axonal atrophy

description: Atrophic changes of axons of the peripheral nervous system.


spina bifida occulta

description: The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic.


Overly formal/pedantic language

description: Use of language that is overly formal, precise, detailed, or pedantic for the social context.


Inlet ventricular septal defect

description: A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus.


name: Focal aware perseverative automatism seizure

description: A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout.


Renal steatosis

description: Abnormal fat accumulation in the kidneys.


Pruritis on hand

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


Abnormal HDL3b concentration

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


Abnormal renal tubular resorption

description: An abnormality of renal absorption.


name: Focal impaired awareness cognitive seizure with dyslexia/alexia

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


P wave inversion

description: P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves.


name: Abnormal response to endocrine stimulation test

description: An anomalous response to a test that is designed to probe the function of the endocrine system.


name: Abnormal connection of the cardiac segments

description: A deviance in the normal connections between two cardiac segements.


Food allergy

description: Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods.


Multiple lineage myelodysplasia

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


male reproductive system neoplasm

description: A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma.


Transudative pleural effusion

description: A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.


Fractured epiphysis of femur

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


Abnormal plasma cell count

description: An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.


Cow milk allergy

description: Hypersensitivity in form of an adverse immune reaction against cow milk protein.


Intracranial cystic lesion

description: A cystic lesion originating within the brain.


renal hypoplasia

description: Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied.


Abnormal choanae morphology

description: Abnormality of the choanae (the posterior nasal apertures).


Abnormality of the frontal hairline

description: An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not.


Monoclonal elevation of IgG heavy chain

description: A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain.


Acute sinusitis

description: An acute form of sinusitis.


Abnormal CSF citrulline concentration

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


name: Glomerular basement membrane lamellation

description: Presence of abnormal additional layers of the basement membrane of the glomerulus.


Abnormal renal tubular lumen morphology

description: Abnormal structure or form of the lumen (opening) of kidney tubules.


Prominent U wave

description: Increased amplitude of the U wave, defined as an amplitude greater than 1-2mm or 25 percent of the height of the T wave.


tracheomalacia

description: Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.


tympanic paraganglioma

description: A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss.


Myocardial bridging

description: A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course.


Left atrial enlargement

description: Increase in size of the left atrium.


Chilblains

description: Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.


Split hand

description: A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.


Displacement of the urethral meatus

description: A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).


Ectopic scrotum

description: Scrotum in a position other than the usual position inferior to the base of the penis.


Neuroepithelial cyst

description: A benign epithelial-lined cystic lesion that can occur anywhere in the neuraxis. Neuroepithelial cysts are ependymal or epithelial lined fluid collections of unknown etiology within the central nervous system parenchyma with no obvious ventricular or subarachnoid connection. Most cysts are asymptomatic, however, some present with seizures, mass effect, or rarely with movement disorders. On imaging, they present as CSF-like parenchymal cysts with smooth, rounded borders and minimal or no surrounding signal intensity abnormality.


Subcortical heterotopia

description: A form of heterotopia were the mislocalized gray matter is located deep within the white matter.


Hemimacroglossia

description: Increased length and width of one half of the tounge.


pili torti

description: Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome.


perineural cyst

description: Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy.


Decreased female libido

description: Diminished sexual desire in female.


Architectural distortion of the lung

description: Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss.


Hypoasparaginemia

description: A decreased amount of asparagine in the blood.


name: Abnormal circulating prostaglandin circulation

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


Abnormality of the genital system

description: An abnormality of the genital system.


Substantia nigra gliosis

description: Focal proliferation of glial cells in the substantia nigra.


Abnormal alveolar macrophage morphology

description: Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles.


apnea of prematurity

description: Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases.


Granulovacuolar degeneration

description: Electron-dense granules within double membrane-bound cytoplasmic vacuoles.


name: Elevated circulating tiglylglycine concentration

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


Decreased platelet P2Y12 receptor

description: Decreased cell membrane concentration of P2Y12 receptor.


name: Elevated circulating S-sulfocysteine concentration

description: Concentration of S-sulfocysteine in the blood circulation above the upper limit of normal.


Leucine crystalluria

description: The presence of leucine crystals in the urine.


Abnormal peer relationships

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


Thought blocking

description: The interruption of speech causes an abnormal period of silence, followed by a sudden switch to an unrelated topic. Some may describe the experience as an abrupt emptying of the mind or the belief that an external force removed their thoughts from their head.


Lower-limb joint contracture

description: A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.


Abnormal fetal pulmonary morphology

description: An anomalous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.


name: Apneic episodes precipitated by illness, fatigue, stress

description: Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress.


name: Abnormal circulating selenium concentration

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


brain stem glioma

description: A neuroglial tumor that arises from the brain stem.


Muscle mounding

description: Percussion-induced, local prolonged contractions (mounding) in muscle persisting for several seconds.


Abnormality of the periungual region

description: An abnormality of the region around the nails of the fingers or toes.


Orthopnea

description: A sensation of breathlessness in the recumbent position, relieved by sitting or standing.


Widely spaced teeth

description: Increased spaces (diastemata) between most of the teeth in the same dental arch.


Abnormal fetal morphology

description: Any structural anomaly of the fetus.


name: Elevated circulating C16 acylcarnitine concentration

description: Concentration of C16 acylcarnitines in the blood circulation above the upper limit of normal. C16 acylcarnitines have a sixteen-carbon acyl chain.


Elevated urine propionylglycine level

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


Malabsorption

description: Impaired ability to absorb one or more nutrients from the intestine.


glossitis

description: Inflammation of the tongue.


name: Increased immunoglobulin level in body fluid

description: An elevation from normal levels of immunoglobulins in body fluids, such as mucous.


Fractured tarsal bone

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


Melasma

description: Symmetrical, blotchy, brownish facial pigmentation.


Positive ferric chloride test

description: If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood.


Incomplete bilateral cleft lip

description: Bilateral cleft lip in which the cleft lip on both sides are incomplete (i.e. start from the bottom of the upper lip but do not reach the nasal cavity), or the cleft lip on one is incomplete and a microform on the other side.


name: Abnormality of urine catecholamine level

description: An abnormal amount of urinary catecholamine concentration.


name: Reduced TSH response to thyrotrophin-releasing hormone stimulation test

description: A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test.


Palate fistula

description: A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate.


Gangliocytoma

description: A low-grade central nervous system tumor composed of dysplastic ganglion cells, usually presenting in children or young adults and located in the cerebral hemispheres.


Autonomic status epilepticus

description: Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal.


Left posterior fascicular block

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


Enanthema

description: A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx.


Progressive leukoencephalopathy

description: Leukoencephalopathy that gets more severe with time.


Spastic hemiparetic gait

description: Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster.


Coated aorta

description: Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans


Increased peripheral myelin thickness

description: Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion.


name: Prolonged bleeding after dental extraction

description: Prolonged bleeding post dental extraction sufficient to require medical intervention.


Increased CSF serine concentration

description: Abnormally increased levels of serine in cerebrospinal fluid.


name: Increased circulating 17 hydroxypregnenolone concentration

description: Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids.


Suprabasal cleavage

description: Cleavage within the suprabasal cell layer of the epidermis, which lies directly above the basal layer and is composed of five to ten layers of cells.


punctate palmoplantar keratoderma

description: A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.


name: Elevated urine trihydroxycholestanoic acid level

description: Presence of trihydroxycholestanoic acid in the urine. Trihydroxycholestanoic acid is an intermediate in the biosynthesis of cholic acid. Elevated plasma levels of trihydroxycholestanoic acid have been found in patients with Zellweger syndrome.


Periventricular laminar heterotopia

description: A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral.


name: Partial duplication of the proximal phalanx of the 2nd finger

description: Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.


Pilonidal abscess

description: A hair-containing cyst or sinus usually in the coccygeal region.


ear exostoses

description: A benign bony growth projecting outward from a bone surface within the external auditory canal.


Pancreatic lymphangiectasis

description: The presence of lymphangiectasis in the pancreas.


name: Elevated circulating cholestanol concentration

description: The concentration of cholestanol in the blood circulation is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol.


name: Reduced epidermal collagen XVII protein expression


name: Elevated circulating phytanic acid concentration

description: An abnormal elevation of phytanic acid.


Micrognathia

description: Developmental hypoplasia of the mandible.


Chronic lactic acidosis

description: A chronic form of lactic acidemia.


Atypical sorting

description: Atypical focus on arranging, balancing, or positioning objects; may be atypical in focus or intensity.


name: Abnormal greater palatine artery morphology

description: An abnormality of a greater palatine artery.


nevus anemicus

description: A capillary vascular anomaly that is characterized by hypopigmented macules.


Restrictive ventricular septal defect

description: Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD.


Abnormal gastrointestinal motility

description: An anomaly of the muscular contractions that propel food though the gastrointestinal tract.


name: Decreased thyroid-stimulating hormone level

description: Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.


Abnormal brain glutamine level by MRS

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


name: Abnormal circulating acylcarnitine concentration

description: Any deviation from the normal concentration in the blood circulation of an acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.


name: Renal interstitial neutrophil infiltration

description: Increased numbers of neutrophils in the interstitial tissues of the kidney.


Frontal upsweep of hair

description: Upward and/or sideward growth of anterior hair.


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

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


epidermoid cysts

description: The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule.


name: Venous varicosities of celiac and mesenteric vessels

description: Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.


Elevated urinary thymine level

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


Renal tubular epithelial cell mitosis

description: Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration.


Palmar hyperlinearity

description: Exaggerated skin markings (dermatoglyphics) on the palms of the hand.


name: Complete heart block with broad QRS complexes

description: A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex.


Abnormal pons morphology

description: A structural abnormality of the pons.


name: Abnormal circulating glutamine family amino acid concentration

description: Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation.


Subungual fibromas

description: The presence of fibromata beneath finger or toenails.


Hypochondriac delusion

description: Bodily preoccupation, disease phobia, and a false fixed conviction of the presence of disease with no response to reassurance.


name: tubulointerstitial nephritis and uveitis syndrome

description: An autoimmune disorder comprising tubulointerstitial nephritis and uveitis.


Cerebral cortical hemiatrophy

description: Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle.


EEG with occipital slowing

description: Slowing in occipital areas of the scalp EEG.


Focal emotional seizure with crying

description: Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present.


Abnormal hairshaft morphology

description: An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin.


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


Limitation of joint mobility

description: A reduction in the freedom of movement of one or more joints.


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

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


Reduced isohemagglutinin level

description: Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).


Acute rhabdomyolysis

description: An acute form of rhabdomyolysis.


Hypoglycinemia

description: An abnormally reduced concentration of glycine in the blood.


name: Elevated urine phenylpropionylglycine level

description: Level of phenylpropionylglycine in urine above upper limit of normal.


Triceps areflexia

description: Inability to elicit triceps tendon reflex.


name: Single ventricle of indeterminate morphology


name: Decreased circulating heparan sulfate level

description: An abnormal decrease in the concentration of heparan sulfate in the blood.


Increased urinary cysteine level

description: An increased concentration of cysteine in the urine.


Brainstem dysplasia

description: A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.


name: Perivascular pre-capillary pulmonary artery inflammation

description: Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer).


cold urticaria

description: Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications.


unilateral polymicrogyria

description: Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.


Coronal hypospadias

description: A mild form of hypospadias in which the urethra opens just under the corona glandis.


Abnormal serum estradiol

description: A deviation from normal concentrations of estradiol in the circulation.


Increased CSF xylitol concentration

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


Oligoclonal T cell expansion

description: The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones.


Renal potassium wasting

description: High urine potassium in the presence of hypokalemia.


patella aplasia/hypoplasia

description: Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.


name: Decreased serum testosterone concentration


Elevated plasma pyrophosphate

description: An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.


name: Decreased level of platelet-activating factor


cluster headache syndrome

description: A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms.


4-5 toe cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the toes 4 and 5.


name: Elevated urinary 2-hydroxyisocaproic acid level

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


Patchy sclerosis of hallux phalanx

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


Upper limb hypertonia

description: Increased muscle tone observed in the arms of the affected person.


EEG with central focal spike waves

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


Progressive hypotrichosis

description: Progressively reduced or lacking hair growth.


Multiple suture craniosynostosis

description: Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.


Pituitary microadenoma

description: A pituitary adenoma that is less than 10 mm in diameter.


Silent hypoxemia

description: Abnormally low blood oxygen level without the presence of dyspnea.


Tarsal sclerosis

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


name: Elevated circulating amyloid A concentration

description: The concentration of serum amyloid A in the blood circulation is above the upper limit of normal.


Cochlear nerve hypoplasia

description: A developmental defect characterized by underdevelopment of the cochlear nerve.


name: Inability to walk by childhood/adolescence


Positive infectious agent test

description: Any kind of test for an infectious agent in a specimen positive.


Idiosyncratic gesture

description: When one uses gestures that are unique to them and have no apparent meaning to others.


vulvar neoplasm

description: A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma.


Post-capillary pulmonary hypertension

description: Post-capillary pulmonary hypertension is a hemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units).


Cutaneous syndactyly

description: A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.


Premature arteriosclerosis

description: Arteriosclerosis occurring at an age that is younger than usual.


serositis

description: Inflammation of a serous membrane.


Duplicated collecting system

description: A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.


pulmonary hypoplasia

description: A respiratory malformation characterized by the presence of both bronchi (albeit rudimentary) and alveoli in an under-developed lobe. Both the size and the weight of the lung are reduced. The true prevalence is not well known (1.4% of all births according to Knox et al. 13), but in cases of premature rupture of membranes at 15-28 weeks gestation, the reported prevalence of pulmonary hypoplasia ranges from 9 to 28%. Factors that contribute to pulmonary hypoplasia include adequate volume of the thoracic cavity, pulmonary fluid dynamics, and abnormal fetal breathing movements.


Rokitansky-Aschoff gallbladder sinuses

description: Localized or diffuse epithelial proliferation with hypertrophy of the muscularis layer and invagination of the mucosa through the muscularis, forming intramural diverticula (i.e., small, bulging pouches in the wall of the gallbladder).


Decreased serum creatinine

description: An abnormally reduced amount of creatinine in the blood.


Decreased number of sweat glands

description: The presence of fewer than normal sweat glands.


Crossed fused renal ectopia

description: A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys.


Uncombable hair

description: Hair that is disorderly, stands out from the scalp, and cannot be combed flat.


Premature thelarche

description: Premature development of the breasts.


name: Perivascular myocardial immune cell infiltration

description: An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels.


Renal corticomedullary cysts

description: The presence of multiple cysts at the border between the renal cortex and medulla.


Abnormal CSF albumin concentration

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


cortical deafness

description: An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.


Monoclonal elevation of IgG kappa chain

description: A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain.


Visceral epithelial cell capping

description: Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus.


name: Focal impaired awareness bilateral motor seizure

description: A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure.


Ectopic anus

description: Abnormal displacement or malposition of the anus.


name: Focal impaired awareness hemifacial clonic seizure

description: Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure.


name: Elevated circulating aconitic acid concentration

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


Parasomnia

description: An undesirable physical event or experience that occurs during the process of falling asleep, while asleep, or when waking up from sleep.


Increased circulating IgG subclass

description: An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses.


name: Anti-mitochondrial M2 antibody positivity

description: The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum.


Focal cognitive seizure with illusion

description: A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation.


Aplasia/Hypoplasia of the testes

description: Absence or underdevelopment of the testes.


amastia

description: Absence of one or both mammary glands.


detrusor sphincter dyssynergia

description: A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation.


Abnormality of the posterior hairline

description: An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair.


Hepatic artery hyperplasia

description: Abnormal increase in size of the hepatic arteries.


Cross bite

description: Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth.


Fibrotic muscularis propria

description: The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process.


name: Severely reduced left ventricular ejection fraction

description: A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.


Increased helper T cell proportion

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


name: Increased urinary N-acetylglucosamine-rich oligosaccharide level

description: Presence of N-acetylglucosamine-rich oligosaccharides in the urine.


Palmoplantar cutis gyrata

description: Cutis gyrata of palms and soles.


Poikiloderma

description: Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.


name: Abnormal morphology of left ventricular trabeculae

description: Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae).


name: Self-mutilation of tongue and lips due to involuntary movements

description: Uncontrolled movements result in tissue damage to the tongue and lips.


name: Impaired ability to form peer relationships

description: Difficulty to establish relations with others in a comparable social group (peers) that may be manifested in pehnomena such as not being able to initiative a conversation, undersand social cues, or to discuss shared interests. This feature is associated with poor integration within a community or group.


Abnormal fetal heart outflow tract

description: A prenatal anomaly of the outflow tract. Fetal ultrasound may not always be able to easily and accurately describe the outflow anomaly, but can detect abnormal anatomy. Often, follow up with a fetal echo is recommended, but fetal ultrasound is limited.


Sertoli cell hyperplasia

description: Abnormal increase in the number of Sertoli cells in the testis.


Posterior pituitary hypoplasia

description: Underdevelopment of the neurohypophysis.


Abnormal P wave

description: Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria.


name: Osteolytic defects of the middle phalanges of the hand


Delayed ability to walk with support

description: A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage.


Multifocal seizures

description: Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).


Dermal microfilaria

description: Presence of filariae in the skin.


Ketoacidosis

description: Acidosis resulting from accumulation of ketone bodies.


Aortic tortuosity

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


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


Reduced brain creatine level by MRS

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


urethra neoplasm

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


Unusual skin infection

description: A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection.


T-wave alternans

description: A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG.


Neurodevelopmental abnormality

description: A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.


Mesangial hyaline deposition

description: Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material.


name: Abnormal circulating coenzyme concentration

description: Concentration of a coenzyme (an organic molecule that binds to the active sites of an enzyme to promote the catalysis of a reaction) is above or below the limits of normal.


Abnormal blood phosphate concentration

description: An abnormality of phosphate homeostasis or concentration in the body.


sacrococcygeal teratoma

description: A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns.


Aggression towards caregivers

description: Aggression that is directed towards caregivers.


Hyperphosphaturia

description: An increased excretion of phosphates in the urine.


Abnormal jaw morphology

description: A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.


Extrapulmonary lobar sequestration

description: A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree.


Esophageal fibrosis

description: Fibrosis located in the subepithelial portion of the esophagus. Fibrosisis is defined by the overgrowth, hardening, and/or scarring of various tissues and is attributed to excess deposition of extracellular matrix components including collagen.


name: Elevated circulating Angiotensin-converting enzyme concentration

description: Concentration of angiotensin-converting enzyme (ACE) in the blood circulation above the upper limit of normal.


name: Elevated methylhex-dienedioic level by MRS

description: An increase in the level of 3-methylhex-2,4-dienedioic acid or 3-methylhex-3,4-dienedioic acid in the brain identified by magnetic resonance spectroscopy (MRS).


Elevated urinary beta-alanine level

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


Poor fine motor coordination

description: An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.


Gastrointestinal inflammation

description: Inflammation of the alimentary part of the gastrointestinal system.


Global systolic dysfunction

description: A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly.


Generalized atonic seizure

description: Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature.


Spinal hemangioblastoma

description: A hemangioblastoma of the spinal cord.


name: Anti-epidermal transglutaminase antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase.


Onychogryposis of fingernail

description: Thickened fingernails.


Anti-U11/U12 RNP antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP.


Monoclonal elevation of intact IgG

description: A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain.


name: Abnormal enzyme concentration or activity

description: Concentration or activity of an enzyme is above or below the limits of normal.


tracheal stenosis

description: Narrowing of the lumen of the trachea.


Dilatation of an abdominal artery

description: Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta.


Maternal first trimester fever

description: The occurence of fever in a mother during the first trimester of pregnancy.


Orotic acid crystalluria

description: Formation of crystals owing to an increased concentration of orotic acid in the urine.


EEG with frontal focal spikes

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


Focal aware manual automatism seizure

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


Multiple trichilemmomata

description: Presence of multiple trichilemmomata, a benign tumor originating from the outer root sheath of the hair follicle.


Fractured proximal phalanx of digit 3

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


Abnormal femoral epiphysis morphology

description: An anomaly of a growth plate of a femur.


Avoidance of emotional intimacy

description: An atypically high tendency to avoid interpersonal exchanges characterizing by sharing of personal feelings, expressions of understanding, affirmation, and demonstrations of caring.


Vertebral artery hypoplasia

description: Underdevelopment of the vertebral artery.


name: 1-5 finger complete cutaneous syndactyly


Gemination

description: The development of two teeth from a single tooth bud, leading to a larger fused tooth.


Anti-RuvBL1/2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against RuvBL1/2.


Squamosal suture synostosis

description: Premature closure of the squamosal suture, which is one of the lateral minor skull sutures, separating the parietal and squamous temporal bones.


Thumb adduction contracture

description: A type of thumb contracture characterized by a chronic reduction in active and passive ability of the metacarpal-phalangeal and/or interphalangeal joints of the thumb to bring from medial side to neutral position, where the neutral position for the thumb is when the distal and proximal segments of the thumb joint are in linear alignment.


name: Ivory epiphysis of the proximal phalanx of the thumb

description: Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


name: Abnormal von Willebrand factor multimer distribution

description: Deviation from the normal von Willebrand factor multimer pattern.


Duplicated clitoris

description: Supernumerary clitoris.


name: Abnormal urinary non-proteinogenic amino acid level

description: Any deviation from the normal amount in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.


Compensatory scoliosis

description: A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time.


name: Increased circulating prealbumin concentration

description: An elevation above the normal concentration of prealbumin in the blood circulation.


Focal aware motor seizure with version

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


Necrotizing pulmonary granulomatosis

description: A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese.


Mesangial amyloid deposition

description: Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass.


Bleeding requiring red cell transfusion

description: Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4).


name: Sensory hyposensitivity unexplained by sensory deficit

description: Increased tolerance to sensory stimuli due to diminished sensory ability.


name: Decreased proportion of CD4-positive helper T cells

description: A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.


epilepsia partialis continua

description: A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)


Abnormality of mitochondrial metabolism

description: A functional anomaly of mitochondria.


name: Elevated circulating alpha-aminobutyric acid concentration

description: An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2.


Intestinal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel.


Abnormal hip joint morphology

description: An abnormality of the hip joint.


Skin nodule

description: Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.


Congenital absence of foreskin

description: Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis.


Ossifying fibroma of the jaw

description: A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed.


name: Medullary peritubular capillary intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney.


Lymphocytosis

description: Increase in the number or proportion of lymphocytes in the blood.


Type I truncus arteriosus

description: Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries.


Peripheral axonal distension

description: An abnormal histological finding characterized by an increase in the cross-section area of peripheral nerve axons (up to 20-25 micrometers in diameter).


name: Elevated circulating branched chain amino acid concentration

description: Concentration of a branched chain amino acid in the blood above the upper limit of normal.


name: Aplasia/Hypoplasia involving the vertebral column


Anticipatory anxiety

description: A state characterized by future-oriented worry, accompanied by negative affect and autonomic arousal.


name: Hypoplasia of maxilla relative to mandible

description: Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw).


name: Partial absence of the septum pellucidum

description: Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain.


Open comedo

description: A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black.


Abnormal intrarenal vein morphology

description: Abnormal structure of a vein located inside the kidney parenchyma.


periodic limb movement disorder

description: Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)


Meat allergen allergy

description: Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products.


Brachyturricephaly

description: Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region.


Generalized tonic seizure

description: A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.


Intestinal hypoplasia

description: Developmental hypoplasia of the intestine.


Tracheal atresia

description: A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking.


facial spasm

description: Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.


pelvic organ prolapse

description: Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence.


EEG with temporal sharp slow waves

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


Decreased cardiac index

description: A reduced cardiac index, defined as cardiac output divided by body surface area.


Nevus sebaceus

description: A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood.


name: Abnormal circulating carbohydrate concentration

description: A deviation from the normal concentration of a carbohydrate in the blood circulation.


Anti-enterocyte antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against enterocytes.


name: Increased level of N-acetylneuraminic acid in urine

description: An increase in the level of N-acetylneuraminic acid in the urine.


Frontoparietal cortical dysplasia

description: The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe.


Renal arteriole intima/media necrosis

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


Abnormal B cell count

description: A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.


Skin fissure

description: A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.


name: Abnormal circulating nitrogen compound concentration

description: Any deviation from the normal concentration of a nitrogen compound in the blood circulation.


Reduced urinary inosine level

description: The amount of inosine in the urine, normalized for urine concentration, is below the lower limit of normal. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond.


Hyperleucinemia

description: An increased concentration of leucine in the blood.


Fractured metatarsal bone of digit 4

description: A partial or complete breakage of the metatarsal bone of digit 4.


EEG with burst suppression

description: The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.


Reduced antithrombin antigen

description: Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation.


Left bundle branch block

description: A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.


Abnormal aortic morphology

description: An abnormality of the aorta.


Hepatic sinusoidal dilatation

description: Presence of an increased amount of blood in the hepatic capillaries.


Upper lip pit

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


Anti-Homer-3 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3.


Impaired tandem gait

description: Reduced ability to walk in a straight line while placing the feet heel to toe.


Ileocecal ulcer

description: An erosion of the mucous membrane in the region connecting the ileum and cecum.


name: Elevated circulating glutathione concentration

description: An abnormally increased level of glutathione in the blood circulation.


name: Proximal/middle symphalangism of 2nd toe

description: Bony fusion of the middle and proximal phalanges of the 2nd toe.


Anti-AK5 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5).


Spasticity of facial muscles

description: Spasticity of one or more muscles innervated by the facial nerve.


Elevated urinary 2-oxoisocaproic level

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


name: Confetti hypopigmentation pattern of lower leg skin


name: Focal EEG discharges with propagation to ipsilateral hemisphere

description: Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain.


Abnormal myocardium morphology

description: A structural anomaly of the muscle layer of the heart wall.


Hyperglycinemia

description: An elevated concentration of glycine in the blood.


Webbed penis

description: Ventral skinfold extending from penis to scrotum.


name: Abnormal radioactive iodine uptake test result

description: Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.


name: Elevated urine 3-methyladipic acid level

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


name: Abnormal extrahepatic bile duct morphology


Focal automatism seizure

description: A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity.


name: Focal autonomic seizure with pallor/flushing

description: A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature.


name: Contracture of the metacarpophalangeal joint of the 2nd finger

description: Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue.


Decreased portal vein velocity

description: A reduction in the velocity of portal venous flow, generally measured by Doppler ultrasound. Portal venous flow is normally towards the liver with peak systolic velocities in the range of 20-40 cm/s.


parathyroid hyperplasia

description: A hyperplasia that involves the parathyroid gland.


Incomplete cleft of the upper lip

description: Cleft of the upper lip that does not go all the way from the bottom of the upper lip until the nasal cavity.


Generalized amyloid deposition

description: A diffuse form of amyloidosis.


Abnormal seminal vesicle morphology

description: A structural abnormality of the seminal vesicle. The seminal vesicles are a pair of glands that also include the prostate gland and the bulbourethral glands and are located in the pelvis superior to the rectum, inferior to the fundus of the bladder and posterior to the prostate. The seminal vesicles contribute around 70% of the fluid that will eventually become semen.


name: Increased circulating iron concentration

description: The concentration of iron in the blood circulation is above the upper limit of normal.


name: Pigmented micronodular adrenocortical disease


Sterile arthritis

description: An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures.


Macrozoospermia

description: Increased size of the head of sperm.


name: Tetralogy of Fallot with pulmonary stenosis

description: The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus.


name: Abnormal size of nasopharyngeal adenoids

description: A deviation in the size of nasopharyngeal adenoids.


Abnormal femoral artery morphology

description: Any structural abnormality of the femoral artey, a large blood vessel that provides oxygenated blood to lower extremity structures and in part to the lower anterior abdominal wall.


Plantar pits

description: The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.


Localized hirsutism

description: Abnormally increased hair growth with a localized distribution.


Flight of ideas

description: Successive thoughts and speech are easily diverted by external stimuli or internal superficial associations.


name: Abnormal cortical peritubular capillary morphology

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


Anti-DPPX antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX).


name: Elevated circulating transferrin concentration

description: An abnormally increased concentration of transferrin in the blood circulation.


Acute otitis media

description: Acute otitis media is a short and generally painful infection of the middle ear.


Abnormal coronary artery course

description: An abnormal path of a coronary artery.


Neonatal epiphyseal stippling

description: The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period.


Arachnoid hemangiomatosis

description: The presence of multiple hemangiomas in the arachnoid.


Enteroviral hepatitis

description: Inflammation of the liver due to infection with enterovirus.


Narrow nail

description: Decreased width of nail.


Plant product allergy

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


Status cribrosum

description: Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations.


Positive cold agglutinin test

description: Cold agglutinin are erythrocyte antibodies which possess the property of agglutinating red blood cells at temperatures of below 37 degrees C, this phenomenon is reversible after heating.


Myelin outfoldings

description: The presence of excessive redundant myelin in the peripheral nerve sheath.


Increased HDL2a concentration

description: An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.


Amplification of relationship seeking

description: Increased frequency or duration in social outings and interactions as part of relationship-seeking or maintenance compared to the previous norms of an individual.


Renal hypophosphatemia

description: Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion.


APUdoma

description: An endocrine tumor arising from an APUD cell.


Decreased serum bile acid concentration

description: A reduction in the concentration of bile acid in the blood.


Calcium channel antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels.


Myocardial calcification

description: Calcium deposition in the myocardium.


Dysmorphic inferior cerebellar vermis

description: A structural anomaly of the inferior portion of the vermis of cerebellum.


Progressive language deterioration

description: Progressive loss of previously present language abilities.


Abnormal pulmonary situs morphology

description: An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi.


name: Contracture of the metacarpophalangeal joint of the 3rd finger

description: Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue.


Hand dimple

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


Abnormality of dental structure

description: An abnormality of the structure or composition of the teeth.


name: Hyperchromasia of renal tubular epithelial cells

description: At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes.


Everted lower lip vermilion

description: An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.


Abnormal urinary guanosine level

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


Bethlem sign

description: Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures.


Fractured proximal phalanx of digit 2

description: A partial or complete breakage of the proximal phalanx of digit 2.


Saccular aortic arch aneurysm

description: An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall.


name: Contracture of the distal interphalangeal joint of the 4th finger

description: Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue.


XK aprosencephaly

description: XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.


Intrarenal abscess

description: An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis.


Elevated urine pyridinoline level

description: An increased amount of pyridinoline in the urine.


Hyperconvex toenail

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


Simplified gyral pattern

description: An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.


Brain imaging abnormality

description: An anomaly of metabolism or structure of the brain identified by imaging.


Acute colitis

description: An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum).


Fetal cystic hygroma

description: The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas.


impacted teeth, multiple

description: The presence of multiple impacted teeth.


Elevated circulating CCL18 level

description: An increased concentration of C-C motif chemokine ligand 18 in the blood circulation.


description: A form of lactic acidemia that occurs in relation to stress or infection.


Fragmented elastic fibers in the dermis

description: Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers.


name: Abnormal circulating monocarboxylic acid concentration

description: Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation.


Shoulder girdle muscle weakness

description: The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.


Aplasia of the vestibular nerve.

description: Absence of the vestibular nerve


Abnormal penile discharge

description: Fluid that originates from the urethra that is not urine, pre-ejaculate or semen.


Episodic ketoacidosis

description: Intermittent episodes of ketoacidosis.


Abnormality of mental function

description: Cognitive, psychiatric, or memory anomaly.


name: Renal arteriole leukocytic endoarterial hypercellularity

description: A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes).


Absent patellar reflexes

description: Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.


parathyroid gland disorder

description: A disease involving the parathyroid gland.


Hypergranulosis

description: Hypergranulosis is an increased thickness of the stratum granulosum.


name: Abnormal circulating inhibin B concentration

description: The concentration of inhibin B in the blood circulation is outside the limits of normal.


name: Abnormal circulating adrenocorticotropin concentration

description: An abnormal concentration of corticotropin in the blood.


name: Abnormal proportion of CD4+ central memory cells

description: An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype.


Small intestinal stenosis

description: The narrowing or partial blockage of a portion of the small intestine.


Elevated circulating succinate

description: An increase concentration of succinate in the blood circulation.


Increased blood urea nitrogen

description: An increased amount of nitrogen in the form of urea in the blood.


Aplasia/Hypoplasia of the maxilla

description: Absence or underdevelopment of the maxilla.


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

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


Migratory arthritis

description: A form of reactive arthritis in which the inflammation moves between joints.


name: White mater abnormalities in the posterior periventricular region


adrenal medulla neoplasm

description: A neoplasm (disease) that involves the adrenal medulla.


Temporal artery giant cells

description: The presence of giant cells in the temporal artery. This is a feature of giant cell arteritis. Giant cells are multinucleated cells formed by fusion of multiple macrophages and are typically located in the intima of the arterial wall. This feature is typically demonstrated by temporal artery biopsy but other arteries may also be affected.


Tongue edema

description: An abnormal accumulation of fluid and swelling in the tongue.


Aplasia of the falx cerebri

description: A developmental defect characterized by aplasia of the Falx cerebri.


Aortopulmonary collateral arteries

description: Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus.


name: Arcuate artery intima/media coagulative necrosis

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


Foot dorsiflexor weakness

description: Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.


name: Abnormal proportion of naive CD8 T cells

description: Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells.


Pulmonary histoplasmosis

description: Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum.


Brain atrophy

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


name: Atrophy/Degeneration involving the corticospinal tracts


name: congenital absence of upper arm and forearm with hand present

description: A congenital malformation in which the upper portion of a limb is either shortened or absent.


Self-healing squamous epithelioma

description: A type of skin tumor that initially presents as a reddish macule and subsequently becomes papular, enlarged, ulcerated and ultimately heals leaving pitted scars.


name: Elevated alkaline phosphatase of hepatic origin

description: An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.


Lipoma of the tongue

description: A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue.


name: Patchy sclerosis of proximal toe phalanx

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


Bilambdoid synostosis

description: Premature synostosis of both lambdoid sutures.


Anti-Kv1.4 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4.


tracheal calcification

description: Abnormal deposits of calcium in the tracheal tissue.


Focal motor seizure with version

description: A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation.


Abnormal isohemagglutinin level

description: An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).


Abnormal CSF glucose concentration

description: A deviation from normal concentration of glucose content in the cerebrospinal fluid.


Elevated urinary glutarylglycine level

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


Decreased FOXP3-expressing T cell count

description: The number of T cells in peripheral blood that express FOXP3-expressing is below the lower limit of normal. This finding is determined by flow cytometry.


name: Focal impaired awareness cognitive seizure with left-right confusion

description: A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure.


Cardiac myxoma

description: A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber.


Staghorn calculus

description: Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system.


Transmantle columnar heterotopia

description: Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma.


Reverse typical atrial flutter

description: A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1.


Bicarbonaturia

description: Abnormally increased concentration of hydrogencarbonate in the urine.


Oromotor apraxia

description: Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control.


Sparse axillary hair

description: Reduced number or density of axillary hair.


name: Starry sky appearance on hepatic sonography

description: An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background).


Astereognosis

description: Tactile agnosia refers to the inability to recognize objects by touch, while the inability to discriminate shape and size by touch is also a related condition.


name: Elevated circulating soluble CD163 concentration

description: The concentration of Soluble CD163 in the blood circulation is above the upper limit of normal.


Intrusion symptom

description: Unintentional re-experiencing of a traumatic event involves symptoms that typically include sensory impressions and emotional responses stemming from the trauma. These symptoms seem to lack a sense of time perspective and context.


name: Abnormal circulating leucine concentration

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


Clasp-knife sign

description: Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife.


Focal T2 hyperintense brainstem lesion

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


trichilemmal cyst

description: Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous.


Enteroviral encephalitis

description: Inflamation of the brain related to infection by an enterovirus.


Dull

description: Applied to pain that is dull, i.e., not severe but that continues over a long period of time.


Accessory ectopic thyroid tissue

description: Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract.


Stereotypical body rocking

description: Habitual repetitive movement of the entire body, front to back or side to side.


Labial hemangioma

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


Temporomandibular joint ankylosis

description: Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.


Subpleural interstitial thickening

description: Increase in thickness of the subpleural interstitium.


name: Reduced epidermal integrin alpha6beta4 protein expression


Focal impaired awareness tonic seizure

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


name: Anti-threonyl-tRNA synthetase antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against threonyl-tRNA synthetase.


Prominence of the premaxilla

description: Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.


atrial septal aneurysm

description: A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography.


Shoulder flexion contracture

description: Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.


Paraplegia/paraparesis

description: Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength.


name: Osteolytic defects of the phalanges of the toes


name: Reduced circulating squalene concentration

description: The concentration of squalene in the blood circulation is below the lower limit of normal.


Laeden paralysis

description: The sensation of having heavy arms and legs, or feeling a heaviness in the limbs.


Exercise-induced rhabdomyolysis

description: Rhabdomyolysis induced by exercise.


Concentric hypertrophic cardiomyopathy

description: Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.


Whooping cough

description: A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air.


lip neoplasm

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


Ambiguous facial expression

description: Spontaneous production of communicative facial expressions that have poor quality or are perceived as odd or mechanical. This may include inaccurate mimicry of typical facial expressions. These expressions may be difficult to interpret for someone who is not familiar with the individual making the expression.


Inflammatory myopathy

description: Chronic muscle inflammation accompanied by muscle weakness.


name: Abnormal brain FDG positron emission tomography

description: An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.


Impaired mastication

description: An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.


name: Sclerosis of the distal phalanx of the thumb

description: An elevation of bone density in the distal phalanx of the thumb.


Tooth agenesis

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


name: idiopathic spontaneous coronary artery dissection

description: The spontaneous occurrence of a dissection of the coronary artery. The clinical recognition of this phenomenon has increased as coronary angiography is becoming more commonly used in the treatment of acute coronary syndrome. The etiology of the condition has not been fully elucidated, but the mean age of presentation is 30-45 years, more than 70% are women, and 30% of cases occur in the peripartum period.


name: Increased CSF alpha-aminobutyrate concentration

description: Concentration of alpha-aminobutyrate in the cerebrospinal fluid above the upper limit of normal.


Abnormal enteric ganglion morphology

description: An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow.


Global glomerulosclerosis

description: Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%.


Abnormal CSF leucine concentration

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