Foam cells

description: The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.


name: Recurrent upper respiratory tract infections

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

description: An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).


Brain parenchymal tuberculoma

description: Tuberculoma results from hematogenous spread of Mycobacterium tuberculosis (M. tb) from an extracranial source. Diagnosis is based on computed tomography (CT) scan and magnetic resonance imaging (MRI) studies with a similar ring-enhancing lesion.


Abnormal ureter physiology

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


Nuchal cord

description: A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times.


Abasia

description: A severe form of gait ataxia such that an affected person cannot walk at all.


solitary bone cyst

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

description: A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported.


Low-frequency hearing loss

description: A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz).


Tracheal hemorrhage

description: Tracheal hemorrhage is a focal bleeding within the trachea. It be diagnosed by tracheobronchoscopy.


Obsessive-compulsive trait

description: The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant.


name: Abnormal circulating hepcidin concentration

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


name: Focal impaired awareness motor seizure with negative myoclonus

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


name: Increased circulating free T4 concentration

description: An elevated concentration of free thyroxine (fT4) in the blood circulation.


name: Abnormal blood monovalent inorganic cation concentration

description: An abnormality of monovalent inorganic cation homeostasis.


Stereotypical hand wringing

description: Habitual clasping and wringing of the hands in the middle of the body, similar to a hand-washing movement.


Abnormal VLDL cholesterol concentration

description: Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood.


name: Elevated circulating 2-hydroxybutyric acid concentration

description: Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range.


cryofibrinogenemia

description: Cryofibrinogen is an abnormal protein that forms precipitate only in plasma. consisting of fibrinogen, fibronectin, alpha1-antitrypsin and alpha2-macroglobulin.


Angular cheilitis

description: A type of inflammation of the lips involving one or both of the corners of the mouth.


name: Leydig cell insensitivity to gonadotropin


name: Decreased serum insulin-like growth factor 1

description: A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.


Neutrophilic urticarial dermatosis

description: A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present.


Spina bifida occulta at S1

description: The closed form of spina bifida with incomplete closure of S1 with intact overlying skin.


name: Decreased amyloid beta 42 peptide CSF concentration

description: A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).


Abnormal synovial membrane morphology

description: Any structural anomaly of the synovium, which is a membrane that lines the cavity of synovial joints and consists of a lining layer of macrophage-like synoviocytes and fibroblast-like synoviocytes, as well as a sublining of connective tissue. Synovial cells are thought to contribute to joint homeostasis by secreting various factors such as hyaluronic acid and lubricin important for joint lubrication and function, as well as disposing of the waste products.


name: Anti-tyrosyl-tRNA synthetase antibody positivity

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


Ambiguous genitalia, female

description: Ambiguous genitalia in an individual with XX genetic gender.


name: Smoker-inclusions in alveolar macrophages

description: In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits.


palatal neoplasm

description: A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula.


Livedo racemosa

description: Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming.


Arcuate artery intima/media arteriitis

description: Inflammation of the inner or middle layer of the arcuate arteries of the kidney.


name: Recurrent upper and lower respiratory tract infections

description: Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.


hyper-beta-alaninemia

description: Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case.


name: Renal tubular cytomegalovirus inclusions

description: Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages.


Diaphragmatic paralysis

description: The presence of a paralyzed diaphragm.


name: Anomalous origin of one pulmonary artery from ascending aorta

description: Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle.


name: Pigmentation anomalies of sun-exposed skin


prolactin deficiency, isolated

description: Subnormal concentration of prolactin.


Abnormal superior vena cava morphology

description: Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart.


Bronchial artery dilatation

description: Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm.


name: Patchy sclerosis of the distal phalanx of the thumb

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


Ileal ulcer

description: An erosion of the mucous membrane in a portion of the ileum.


Opposable triphalangeal thumb

description: A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.


name: Functional abnormality of the gastrointestinal tract

description: Abnormal functionality of the gastrointestinal tract.


Bilateral facial palsy

description: Two-sided or bilateral weakness of the muscles of facial expression and eye closure.


name: Abnormality of the musculoskeletal system

description: An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body.


Excessive interest in others

description: A strong desire to interact and engage with others that is perceived to be inappropriate or excessive in the context of cultural norms.


Abnormal platelet function

description: Any anomaly in the function of thrombocytes.


name: Increased circulating creatine kinase BB isoform

description: An increased concentration of the BB isoform of creatine kinase in the blood circulation.


name: Elevated urine 3-methyl-2-oxovaleric acid level

description: Increased amount of 3-methyl-2-oxovaleric acid in the urine.


name: Elevated urinary ureidopropionic acid level

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


Growth delay

description: A deficiency or slowing down of growth pre- and postnatally.


name: Anti-phenylalanyl tRNA synthetase antibody positivity

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


name: Anti-coagulation factor antibody positivity

description: The presence of an antibody in the blood circulation that is directed against a coagulation factor.


Abnormal esophagus physiology

description: Any physiological abnormality of the esophagus.


Hyperimidodipeptiduria

description: Elevated levels of proline-containing dipeptides in urine.


Poor conversational reciprocity

description: Reduced use of reciprocal (back and forth) conversation, as compared to what would be expected for language level.


description: A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterized by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus.


Neonatal seizure

description: A seizure occurring within the neonatal period (28 days beyond the full term date).


Abnormal corticospinal tract morphology

description: Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.


Elevated urinary 3-hydroxybutyric acid

description: An increased amount of 3-hydroxybutyric acid in the urine.


EEG with central focal spikes

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


name: Arcuate vein medial/intimal liquefactive necrosis

description: A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.


Focal motor seizure with dystonia

description: A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures.


Mucus plug

description: Mucus that is abnormally thick in consistency (ie, inspissated) and plugs the airway is known as a mucus plug. Mucus plugs consist of mucins and cells and can partially or completely obstruct one or more airways and cause serious consequences, including atelectasis and recurrent infection.


Aplasia/Hypoplasia of the sweat glands

description: Absence or developmental hypoplasia of the sweat glands.


Patchy hypopigmentation of hair

description: Reduced pigmentation of hair in patches.


Generalized weakness of limb muscles

description: Generalized weakness of the muscles of the arms and legs.


Aortic arch calcification

description: Calcification, that is, pathological deposition of calcium salts in the arch of aorta.


Glomerular subendothelial widening

description: Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material.


Prolonged partial thromboplastin time

description: Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.


Increased serum leptin

description: An increased concentration of leptin in the blood.


name: Anti-islet antigen-2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2.


cafe au lait spots, multiple

description: A cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.


Immotile sperm

description: A lack of mobility of ejaculated sperm.


Orange discolored tonsils

description: A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903.


non-infectious meningitis

description: Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines.


Anti-prothrombin antibody positivity

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


Abnormal cardiac exercise stress test

description: Abnormal results of exercise on heart function.


name: Metacarpal diaphyseal endosteal sclerosis

description: Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone.


Congenital palmoplantar hyperkeratosis

description: Abnormal thickening of the skin on the palms and soles that is present at birth.


Perivascular dermis hyaline deposition

description: Deposition of a largely amorphous hyaline (transparent and homogeneous) substance around blood vessels in the dermis layer of the skin.


name: Linear C3 deposits along the epidermal basement membrane zone

description: Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.


Abnormal circulating osteocalcin level

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


Aplasia/Hypoplasia of the gallbladder

description: Absence or underdevelopment of the gallbladder.


Portosystemic collateral veins

description: Presence of biliary veins that serve as a collateral channel to the systemic circulation


Recurrent sinopulmonary infections

description: An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.


name: Sclerosis of the proximal phalanx of the 3rd finger


name: Abnormal circulating citrulline concentration

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


Unusual infection

description: A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections.


name: Decreased circulating hepcidin concentration

description: Concentration of hepcidin in the blood circulation below the lower limit of normal.


nasal bones, absence of

description: Absence of the nasal bone.


Interstitial cardiac fibrosis

description: A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.


name: Abnormal circulating proteinogenic amino acid concentration

description: An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.


Membranous subvalvular aortic stenosis

description: Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency.


Cerebellar glioma

description: A glioma affecting the cerebellum.


Spinal dysraphism

description: A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.


Abnormal facial skeleton morphology

description: An abnormality of one or more of the set of bones that make up the facial skeleton.


2-3 finger syndactyly

description: Syndactyly with fusion of fingers two and three.


Abnormal substantia nigra morphology

description: A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry.


name: Decreased specific antibody response to protein vaccine

description: A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination.


Cardiac fibroma

description: A fibroma of the heart.


name: Hypoplastic posterior communicating artery

description: A developmental anomnaly characterized by underdevelopment of the posterior communicating artery.


Abnormality of cranial sutures

description: Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.


name: Stippling of the epiphyses of the hallux

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


Cervical agenesis

description: Congenital absence of the uterine cervix.


Bacterial encephalitis

description: Encephalitis caused by bacterial infection.


Focal cortical dysplasia type IIIc

description: A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis).


Calcium nephrolithiasis

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


Cold-sensitive myotonia

description: An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold.


Shoulder extension contracture

description: Lack of the full expected passive range of flexion of the shoulder joint (Shoulder flexion puts the arms from a resting position at one's sides to straight above the head; thus, with shoulder extension contracture it is not possible to raise the arms above the head fully).


Myoclonic absence status epilepticus

description: Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG.


Fine hair

description: Hair that is fine or thin to the touch.


Aggression toward non-caregivers

description: Aggression that is directed towards non-caregivers.


Distended jugular lymphatic sacs

description: The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency.


Hyperpigmented papule

description: A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin.


Sweet craving

description: Excessive desire to eat sweet foods.


Impaired platelet adhesion

description: An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation.


T-cell lymphoma/leukemia

description: A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas.


Hepatic amyloidosis

description: A form of amyloidosis that affects the liver.


psychologic dyspareunia

description: Painful or difficult coitus.


name: Abnormal sex hormone-binding globulin level

description: A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood.


High-grade vesicoureteral reflux

description: Vesicoureteral reflux with dilation of the renal calyces (Grade III - V).


Enuresis diurna

description: Enuresis occurring during waking hours of the day.


Jaw hyporeflexia

description: Reduced intensity of muscle tendon reflexes in jaw.


name: Mixed demyelinating and axonal polyneuropathy


Abnormality of the integument

description: An abnormality of the integument, which consists of the skin and the superficial fascia.


swayback

description: Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed)


Mesoaxial foot polydactyly

description: The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.


Jumping

description: An excessive frequency of jumping in place.


Abnormal cardiac test

description: Abnormal test result of cardiovascular physiology.


name: Reduced quantity of Von Willebrand factor

description: Decreased quantity of von Willebrand factor.


commissural lip pits

description: A depression located at an oral commissure.


name: Amplification of comfort with casual physical contact

description: An increase in the tendency of a person to be comfortable with physical contact with others compared to that person's previous norm.


Adrenal mass

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


Few cafe-au-lait spots

description: The presence of two to five cafe-au-lait macules.


Small intestinal hamartoma

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


Electrical alternans

description: The QRS complexes of the electrocardiogram alternate in height.


Vascular ring

description: A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.


epididymal neoplasm

description: A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma.


Aplasia/Hypoplasia of the nails

description: Aplasia or developmental hypoplasia of the nail.


name: Elevated CSF hydroxyproline concentration


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

description: Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.


Pain insensitivity

description: Inability to perceive painful stimuli.


Hand pain

description: An unpleasant sensation characterized by physical discomfort localized to the hand.


splenic abscess

description: An abscess that is located in the spleen.


Coiled sperm flagella

description: Sperm cells whose flagella are twisted (coiled).


name: Globus pallidus hypointensity on susceptibility-weighted imaging

description: Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI).


Bladder duplication

description: A congenital anomaly characterized by the presence of two bladders.


Hyperglycorrhachia

description: Abnormally high glucose concentration in the cerebrospinal fluid.


name: Abnormal pigmentation of the oral mucosa

description: An abnormality of the pigmentation of the mucosa of the mouth.


dysplasia of cervix

description: Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane.


Focal hyperkinetic seizure

description: A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements.


Coccidioidal meningitis

description: A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges.


name: Focal impaired awareness head nodding automatism seizure

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


Multiple long-bone exostoses

description: Multiple exostoses originating in long bones.


Pancreatic hamartoma

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


ovarian sex cord-stromal tumor

description: A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor.


Diaphragmatic weakness

description: A decrease in the strength of the diaphragm.


name: Anti-myelin oligodendrocyte glycoprotein antibody positivity

description: Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein.


Cautious gait

description: Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen.


Abnormal serum estrone

description: A deviation from the normal concentration of circulating estrone.


Brachiocephalic artery aneurysm

description: An abnormal widening (dilatation) of the brachiocephalic artery


name: EEG with hyperventilation-induced focal epileptiform discharges

description: Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


name: Anti-phosphatidyl ethanolamine antibody positivity

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


patent ductus venosus

description: A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver).


Anal pain

description: Pain in and around the anus or rectum (perianal region).


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

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


Focal aware motor seizure

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


name: Abnormal circulating dicarboxylic acid concentration

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


Abnormality of urine homeostasis

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


Elevated urinary coproporphyrin level

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


physical urticaria

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


Elevated haptoglobin level

description: An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation.


Motor regression

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


name: Focal impaired awareness verbal automatism seizure

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


Hypoplasia of the brainstem

description: Underdevelopment of the brainstem.


Abnormal doll's eye reflex

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


Intratubular light-chain casts

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


name: Muscle abnormality related to mitochondrial dysfunction


Thoracic aorta calcification

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


Lip telangiectasia

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


Corneal amyloidosis

description: A form of amyloidosis that is located in the cornea.


Gallbladder biliary sludging

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


name: Abnormal circulating pyrimidine concentration

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


pulmonary agenesis

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


Edematous chorionic villi

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


Primary amenorrhea

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


Choreoathetosis

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


name: Increased glucose-6-phosphate dehydrogenase level in tissue

description: An increase in the level of glucose-6-phosphate dehydrogenase in tissue.


Recurrent infections due to aspiration

description: Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration.


name: Glomerular endocapillary neutrophil hypercellularity

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


Increased CSF urate concentration

description: Increased concentration of urate in the cerebrospinal fluid.


Aplasia of the maxilla

description: A congenital defect characterized by absence of the Maxilla.


spondylolysis

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


Sleep-related eating disorder

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


name: Entrapment neuropathy of suprascapular nerve

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


Motor neuron atrophy

description: Wasting involving the motor neuron.


Short thumb

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


name: Sclerosis of the distal phalanx of the hallux


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

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


Abnormal lung development

description: A structural defect associated with abnormal development of the lung.


Reduced urinary iodine level

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


aortic valve prolapse

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


Hyperparakeratosis

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


Trachyonychia

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


Vesicoallantoic abdominal wall defect

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


Small intestinal polyp

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


Anti-lamin C antibody positivity

description: The presence of autoantibodies in the blood circulation that react against human lamin C.


Elongated superior cerebellar peduncle

description: Increased length of the superior cerebellar peduncle.


Joint contracture of the 4th finger

description: Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected.


Single raphe bicuspid aortic valve

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


Hairshafts with longitudinal grooves

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


Decreased intracranial pressure

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


Abnormal mitral valve physiology

description: Any functional anomaly of the mitral valve.


Palmoplantar scaling skin

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


name: Diminished circulating reduced nicotinamide adenine dinucleotide (NADH) concentration

description: The concentration of reduced nicotinamide adenine dinucleotide (NADH) in the blood circulation is below the lower limit of normal.


Proximal symphalangism of hands

description: The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases.


Parietal meningocele

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


Temporomandibular joint crepitus

description: Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound.


Abnormality of the urethra

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


name: Proximal/middle symphalangism of the 2nd finger

description: Fusion of the proximal and middle phalanges of the 2nd finger.


name: Focal impaired awareness autonomic seizure with lacrimation

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


Holosystolic murmur

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


Scalp tenderness

description: Pain or discomfort of the scalp elicited by palpation.


name: Abnormal response to human chorionic gonadotrophin stimulation test

description: An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors.


name: Abnormal atrioventricular valve morphology

description: An abnormality of an atrioventricular valve.


visual agnosia

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


Asymptomatic hyperammonemia

description: An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy.


Abnormal plasmablast proportion

description: A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination.


Knee clonus

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


Chronic (near) absent circulating IgG3

description: A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured.


name: beta-aminoisobutyric acid, urinary excretion of

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


name: Medullary peritubular capillary lumen organized thrombi

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


Gallbladder dyskinesia

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


Generalized arterial tortuosity

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


Elbow clonus

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


Pancreatic mass

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


name: Tetralogy of Fallot with absent pulmonary valve

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


Ureterovesical junction obstruction

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


Absent P wave

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


Abnormality of the nose

description: An abnormality of the nose.


Areflexia of lower limbs

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


Class I obesity

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


Abnormal capillary physiology

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


Peripheral axonal degeneration

description: Progressive deterioration of peripheral axons.


Fractured elbow

description: A partial or complete breakage of the elbow.


name: Osteolytic defects of the phalanges of the hallux


Decreased skin turgor

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


Abnormal skin morphology of the palm

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


Dilated third ventricle

description: An increase in size of the third ventricle.


Abnormal change in social behavior

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


Hip pain

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


name: Anti-Y-box protein-1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1.


name: Shovel-shaped maxillary central incisors

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


name: Decreased number of large peripheral myelinated nerve fibers

description: A reduced number of large myelinated nerve fibers.


Absence of intrinsic factor

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


Genital tract atresia

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


Lumbar hypertrichosis

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


exfoliative dermatitis

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


Abnormal renal morphology

description: Any structural anomaly of the kidney.


Hypoprolinemia

description: A decreased amount of proline in the blood.


IgG4-related retroperitoneal fibrosis

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


Abnormal gastric mucosa morphology

description: An abnormality of the gastric mucous membrane.


Lateral spinal meningocele

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


Abnormal Bowman space morphology

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


palmar fibromatosis

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


Anti-Ku antibody positivity

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


Extreme oligozoospermia

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


Short N2 sleep

description: Disruptions in the second stage of NREM sleep.


name: Elevated circulating pyridinoline concentration

description: An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation.


name: Abnormality of exocrine pancreas physiology

description: A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.


name: Oligoclonal elevation of circulating IgM

description: An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase.


Sarcomatoid carcinoma of the tongue

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


name: Grade I preterm intraventricular hemorrhage

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


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

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


Jamais vu aura

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


name: Decreased circulating 18-hydroxycortisone level

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


Abnormal brain lactate level by MRS

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


Anesthetic-induced rhabdomylosis

description: Rhabdomyolysis induced by anesthesia.


name: Elevated circulating hepcidin concentration

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


Xanthomas of the palmar creases

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


Decreased cystatin C level

description: A decreased concentration of cystatin C in the blood circulation.


Abnormal proportion of memory B cells

description: A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).


Anti-GM1 antibody positivity

description: Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury


Right ventricular cardiomyopathy

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


name: Superficial blush-like subcutaneous fatty lesions

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


hemidystonia

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


Abnormal pulmonary artery morphology

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


Anti-desmoglein-3 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule.


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


Increased proportion of plasmablasts

description: An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells.


Hippocampal sclerosis

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


name: Dysplasia of the superior cerebellar vermis

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


Congenital panfollicular nevus

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


Thin vermilion border

description: Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).


Renal calcium wasting

description: High urine calcium in the presence of hypocalcemia.


Pancreatic alpha-cell hyperplasia

description: A diffuse and specific increase in the number of alpha-cells.


Anti-GD1a IgM antibody positivity

description: The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.


Abnormal perifollicular morphology

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


Decreased circulating globulin level

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


name: Abnormal renal arteriole endothelium morphology

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


Median cleft upper lip

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


Barrel-shaped tooth

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


name: Abnormal fetal genitourinary system morphology

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


Dark yellow urine

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


name: Vaginal passage of hydatidiform mole tissue

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


Fused labia majora

description: The outer labia are sealed together.


Decreased dermal collagen

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


name: Abnormal appendicular skeleton morphology

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


name: Increased circulating apolipoprotein circulation

description: Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein).


Dilatation of the renal pelvis

description: The presence of dilatation of the renal pelvis.


Episodic metabolic acidosis

description: Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.


Animal protein allergy

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


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


name: Focal aware cognitive seizure with hallucination

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


Abnormality of connective tissue

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


Green urine

description: An abnormal green color of urine.


EEG with parietal sharp waves

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


Secondary hyperaldosteronism

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


Left anterior fascicular block

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


name: Decreased circulating apolipoprotein E concentration

description: Concentration of apolipoprotein E below the lower limit of normal.


Status epilepticus with ictal paresis

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


Coarse hair

description: Hair shafts are rough in texture.


Chronic fatigue

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


description: Noncompaction cardiomyopathy that affects both ventricles.


Oral motor hypotonia

description: Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior.


Gingival bleeding

description: Hemorrhage affecting the gingiva.


Focal aware sensory seizure

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


Dysgyria

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


Reduced eye contact

description: A reduced frequency or duration of eye contact.


neuroepithelial neoplasm

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


name: Abnormal CSF aromatic amino acid concentration

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


livedo reticularis

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


name: Lipid-laden macrophages in bronchoalveolar fluid

description: Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions.


normal pressure hydrocephalus

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


name: Progressive conductive hearing impairment

description: A progressive type of conductive deafness.


Abnormal red nucleus morphology

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


name: Abnormality of the peripheral nervous system

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


Adrenal xanthomatosis

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


name: Steroid-sensitive nephrotic syndrome with frequent relapses

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


name: Increased pituitary glycoprotein hormone alpha subunit level

description: An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones.


Hyperplastic labia majora

description: Overgrowth of the outer labia.


endocardial fibroelastosis

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


Intellectual disability, mild

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


Abnormal urinary hypoxanthine level

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


Isolated systolic hypertension

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


Narrow mouth

description: Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).


Recurrent meningitis

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


Short-segment aganglionic megacolon

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


Recurrent aspiration pneumonia

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


Glycosuria

description: An increased concentration of glucose in the urine.


Loss of ambulation

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


Reversible renal failure

description: Acute renal failure with resolution of manifestations.


Abnormal lymphocyte morphology

description: An abnormality of lymphocytes.


name: Abnormality of intrinsic muscle of tongue

description: An abnormality of an intrinsic muscle of tongue.


Fetal posterior fossa hemorrhage

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


Subcutaneous ossification

description: Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation.


name: Focal autonomic seizure with piloerection

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


fasciitis

description: Inflammation process in fascia.


name: Increased anti-dairy protein IgE antibody level

description: Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products.


name: High-frequency sensorineural hearing impairment

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


Premature graying of hair

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


Ectopic testis

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


Clonus

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


Enlarged fetal lungs

description: The size (volume) of the lungs of a fetus above the upper limit of normal for the gestational age.


uterine anomalies

description: An abnormality of the uterus.


Absent cupid's bow

description: Lack of paramedian peaks and median notch of the upper lip vermilion.


Cervical neoplasm

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


Abnormal natural killer cell count

description: Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes.


transient global amnesia

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


name: Dilatation of superior mesenteric artery

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


name: Focal aware sensory seizure with visual features

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


Chronic decreased circulating IgG2

description: A lasting decrease of immunoglobulin G2 (IgG2) in the blood.


Swollen lip

description: Enlargement of the lip typically due to fluid buildup or inflammation.


name: Low alkaline phosphatase of hepatic origin

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


Anterior hypopituitarism

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


Unilateral renal hypoplasia

description: One sided hypoplasia of the kidney.


Streak ovary

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


description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A).


Reduced blood urea nitrogen

description: An abnormally low concentration of urea nitrogen in the blood.


Short N1 sleep

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


name: Elevated circulating beta-aminoisobutyric acid concentration

description: An increased concentration of beta-aminoisobutyric acid in the blood circulation.


Facial capillary hemangioma

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


name: Increased circulating ethanolamine concentration

description: Abnormally increased levels of ethanolamine in circulation.


Persistent lactic acidosis

description: A continuous form of lactic acidemia.


Increased blood pressure

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


Paroxysmal atrial tachycardia

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


Vaginal clear cell adenocarcinoma

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


name: Abnormal CSF homovanillic acid concentration

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


name: Reduced circulating urocanic acid concentration

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


Calcified ovarian cyst

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


Rem parasomnia

description: Parasomnia occurs during REM sleep.


Dilated superficial abdominal veins

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


Ectopic liver

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


name: Abnormal presence of ultra-large von Willebrand factor multimers

description: Detection of abnormal ultra-large von Willebrand factor multimers.


Medial/intimal arcuate venosclerosis

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


cor pulmonale

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


Bilateral vertebral artery hypoplasia

description: Underdevelopment of the vertebral artery on both sides.


Hypothalamic arteriovenous malformation

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


chronic leukemia

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


Purple urine

description: An abnormal purple color of the urine.


name: Mixed respiratory and metabolic acidosis


Decreased proportion of plasmablasts

description: A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells.


Psychotic episodes

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


Snoring

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


Intralobular interstitial thickening

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


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

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


name: Increased circulating beta-carotene concentration

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


Carpal osteolysis

description: Osteolysis affecting carpal bones.


Declarative memory loss

description: Impaired ability to remember facts and events.


Gustatory sensory seeking

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


sialadenitis

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


name: Increased CSF homocarnosine concentration

description: Abnormally increased levels of homocarnosine in cerebrospinal fluid.


Anti-Ri antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, an antineuronal antibody.


name: Decreased circulating apolipoprotein A-I concentration

description: Concentration of apolipoprotein A-I below the lower limit of normal. Apolipoprotein A-I is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease.


Pendulous urethral stricture

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


name: Reduced growth-hormone binding protein level

description: A decreased blood concentration of growth hormone binding protein.


Increased CSF interferon alpha

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


renal tubule disorder

description: A disease that involves the renal tubule.


Vacuolated lymphocytes

description: The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.


name: Asymmetrical insertion of the midpiece into the head

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


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


Chronic constipation

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


Abnormality of infra-orbital nerve

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


name: Mottled pigmentation of photoexposed areas


Supernumerary pulmonary fissure

description: Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes.


name: Focal hyperintensity of cerebral white matter on MRI

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


Absent skin pigmentation

description: Lack of skin pigmentation (coloring).


Cock-walk gait

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


Stooped posture

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


Dermal multinucleated giant cells

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


Specific anosmia

description: Anosmia for one particular odor.


Transverse facial cleft

description: A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear.


Ileal adenocarcinoma

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


Bradyphrenia

description: Abnormal slowness of thought processes.


Abdominal ectopia cordis

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


Absent right superior vena cava

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


name: Transitional atrioventricular canal defect

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


name: Decreased circulating chenodeoxycholic acid concentration

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


Recurrent deep vein thrombosis

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


Abnormal adipose tissue morphology

description: An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.


Malignant rhabdoid tumor of muscle

description: A malginant rhabdoid tumor (MRT) originating in muscle tissue.


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


name: Decreased circulating norepinephrine concentration

description: Concentration of norepinephrin in the blood circulation below the lower limit of normal.


Elevated CSF saccharopine concentration

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


name: Cortical radial artery intimal/medial amyloidosis

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


Positive carpal Tinel sign

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


Enlarged posterior fossa

description: Abnormal increased size of the posterior cranial fossa.


Immediate Echolalia

description: Immediate repetition of another person's speech.


name: Decreased proportion of CD4+CD25+ regulatory T cells

description: An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.


Decreased CSF serine concentration

description: Abnormally decreased levels of serine in cerebrospinal fluid.


Medial calcification of large arteries

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


name: Abnormal four chamber view of the fetal heart

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


Cerebral cortical atrophy

description: Atrophy of the cortex of the cerebrum.


name: Abnormal circulating ferritin concentration

description: A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma.


Abnormal subarachnoid space morphology

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


Bilateral lung agenesis

description: Bilateral lack of development of the lungs.


Sleep paralysis

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


Late onset atopic dermatitis

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


Dust mite allergy

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


volvulus of midgut

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


Abnormality of the extrinsic pathway

description: An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.


Elevated systolic blood pressure

description: Abnormal increase in systolic blood pressure.


name: Impaired phorbol myristate acetate-induced platelet aggregation

description: Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA.


name: Complete left sided absence of pericardium

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


Chronic absent circulating IgD

description: A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured.


name: Increased urinary neutrophil gelatinase-associated lipocalin

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


name: Distal sensory impairment of all modalities

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


Anterior plagiocephaly

description: Asymmetry of the anterior part of the skull.


folliculitis

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


Perihepatic enhancement

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


name: Perinuclear antineutrophil antibody positivity

description: The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.


Trophic changes related to pain

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


EEG with polyspike wave complexes

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


Skin detachment

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


name: Abnormal circulating leptin concentration

description: An abnormal concentration of leptin in the blood.


Tubulointerstitial viral infiltration

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


Abnormal factor IX activity

description: Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.


Abnormality of the knee

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


Reduced factor IX activity

description: Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.


Mediastinal lymphadenopathy

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


name: EEG with photoparoxysmal response grade III

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


Thickened elastic fibers in the dermis

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


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

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


name: Aplasia/hypoplasia involving the skeleton

description: Absence (due to failure to form) or underdevelopment of one or more components of the skeleton.


Abnormal delivery

description: An abnormality of the birth process.


Cryptozoospermia

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


4-5 finger syndactyly

description: Syndactyly with fusion of fingers four and five.


Hyperconvex nail

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


Overriding aorta

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


name: Dermatological manifestations of systemic disorders


Vertebral segmentation defect

description: An abnormality related to a defect of vertebral separation during development.


Patchy sclerosis of 3rd toe phalanx

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


Glomerular capillary microaneurysm

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


name: Fatigable weakness of swallowing muscles

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


Abnormal 5th finger morphology

description: An abnormality affecting one or both 5th fingers.


3-hydroxyisovaleric aciduria

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


Renal cortical cysts

description: Cysts of the cortex of the kidney.


Glomerular capillary congestion

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


Gastric diverticulum

description: An outpouching of the gastric wall.


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

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


Global developmental delay

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


Abnormal neural tube morphology

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


name: Decreased middle cerebral artery pulsatility index

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


Atrophic muscularis propria

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


name: Abnormal circulating lactate dehydrogenase concentration

description: A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate.


Ovarian papillary adenocarcinoma

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


Abnormality of styloglossus muscle

description: An abnormality of the styloglossus muscle.


name: Osteolytic defects of the distal phalanges of the toes


name: Focal aware undressing automatism seizure

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


name: Increased circulating A-type natriuretic peptide concentration

description: A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.


Subpleural curvilinear line

description: This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present).


name: Reduced epidermal keratin 14 protein expression

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


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

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


Widened subarachnoid space

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


Self hugging

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


Granular casts

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


Epidermal acanthosis

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


EEG with focal spikes

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


Agenesis of central incisor

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


Ivory epiphyses of the 2nd finger

description: Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


facial hemiatrophy

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


Persistent EBV viremia

description: Persistent presence of Epstein-Barr virus in the blood.


Arcuate vein medial atrophy

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


name: Fetal intraventricular hemorrhage with ventriculomegaly

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


description: Abnormality of the eleventh cranial nerve.


Renal cortical microcysts

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


Reduced impulse control

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


Increased urinary bile acid level

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


name: Contractures of the metatarsophalangeal joint of the hallux

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


Anti-HLA antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA).


Bilious emesis

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


Abnormal cerebral morphology

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


Anti-BP230 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against BP230.


Elevated urinary cytidine

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


name: Decreased esterified to free carnitine ratio

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


Acinar dysplasia

description: Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli.


Left ventricular diastolic dysfunction

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


Thin-cap fibroatheroma

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


Tactile agnosia

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


Expressive aphasia

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


Increased number of lymph nodes

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