Flexion contracture of digit

description: A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.


Absent internal genitalia

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


Pharyngeal exudate

description: Fluid exuded from the posterior wall of the pharynx.


Short distal phalanx of the 5th toe

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


Abnormal atrioventricular conduction

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


Edema of the dorsum of hands

description: An abnormal accumulation of fluid beneath the skin on the back of the hands.


name: Type 1 and type 2 muscle fiber minicore regions

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


name: Abnormal circulating thyroglobulin concentration

description: A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.


name: Anti-isoleucyl tRNA-synthetase antibody positivity

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


Pulmonary vein varix

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


Hemihypertrophy

description: Overgrowth of only one side of the body.


Thalamic calcification

description: Calcium deposition in the thalamus.


Absent middle phalanx of the 3rd toe

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


Renal pelvic carcinoma

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


Decreased CSF lysine concentration

description: Abnormally decreased levels of lysine in cerebrospinal fluid.


Abnormal CSF valine concentration

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


name: Increased phytanic acid:pristanic acid ratio

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


Valvular pulmonary stenosis

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


Hepatosplenomegaly

description: Simultaneous enlargement of the liver and spleen.


Generalized neonatal hypotonia

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


name: Increased anti-meat allergen IgE antibody level

description: Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken.


Volar fingernail

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


skeletal muscle disorder

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

description: A disease involving the skeletal muscle tissue.


Renal vein thrombosis

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


leiomyosarcoma of the corpus uteri

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


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


Penile hypospadias

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


Hemosiderinuria

description: The presence of hemosiderin in the urine.


Hypoplasia of the pons

description: Underdevelopment of the pons.


Conspicuously happy disposition

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


Abnormality of the internal capsule

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


name: Impaired arachidonic acid-induced platelet aggregation

description: Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid.


name: Nontuberculous mycobacterial pulmonary infection

description: An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease.


Abnormal eye contact

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


Molluscoid pseudotumors

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


Exercise-induced muscle cramps

description: Sudden and involuntary contractions of one or more muscles brought on by physical exertion.


name: Partial duplication of the phalanges of the hallux


name: Ivory epiphysis of the proximal phalanx of the 3rd finger

description: Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Curved proximal toe phalanx

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


name: Abnormal circulating testosterone concentration

description: An anomalous concentration of testosterone in the blood.


Intrarenal reflux

description: Severe vesicoureteral reflux reaching the kidney parenchyma.


Hypoplasia of the bladder

description: Underdevelopment of the urinary bladder.


Increased CSF protein concentration

description: Increased concentration of protein in the cerebrospinal fluid.


third-degree atrioventricular block

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


Interface hepatitis

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


Adrenal leiomyoma

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


Bilateral fetal pyelectasis

description: A bilateral form of fetal pyelectasis.


osteopoikilosis

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


paraphimosis

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


Impulsivity

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


name: Bullet-shaped proximal phalanx of the hallux

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


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

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


ceruminoma

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


Accessory spleen

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


Vascular hamartoma

description: A benign focal growth composed of vascular tissue.


Periportal fibrosis

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


Valinemia

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


Renal interstitial amyloid deposits

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


name: Increased circulating guanosine concentration

description: Increased concentration of guanosine in the blood circulation.


Hydrosalpinx

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


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


Intraoral laceration

description: A wound of the mucosa within the oral cavity covering lips, tongue, palate, gingiva, pharynx, or retropharynx.


Anejaculation

description: Inability to ejaculate.


Gonadal calcification

description: Deposition of calcium salts in gonadal tissue.


Facial-lingual fasciculations

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


Renal neutrophilic tubulitis

description: Infiltration of the renal tubular epithelium by neutrophils.


Pulmonary arteriovenous malformation

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


name: Abnormal electrophysiology of sinoatrial node origin

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


Central diaphragmatic hernia

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


Fractured coccyx

description: A partial or complete breakage of the coccyx.


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


Pleural mass

description: A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).


name: Increased erythrocyte protoporphyrin concentration

description: Concentration of protoporphyrins in erythrocytes above the upper limit of normal.


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

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


Lichenoid skin lesion

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


Fixated interest with abnormal focus

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


hair follicle neoplasm

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


name: Elevated CSF gamma-aminobutyric acid concentration


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

description: Complete duplication of middle phalanx of third toe.


name: Focal impaired awareness sensory seizure with olfactory features

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


Axial malrotation of the kidney

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


name: Increased circulating surfactant protein level

description: An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis.


Addictive non-substance behaviors

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


Oligoarthritis

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


Pretesticular azoospermia

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


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

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


Internal carotid artery calcification

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


name: Partial duplication of the proximal phalanx of the 4th finger

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


name: Decreased lymphocyte proliferation in response to anti-CD3

description: A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.


name: Melanin pigment aggregation in hair shafts


Gottron sign

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


Pulmonary interstitial thickening

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


name: Increased anti-bacteria IgE antibody level

description: Increased level of IgE antibody against bacteria.


Impaired platelet aggregation

description: An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.


nevus comedonicus syndrome

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


name: Abnormal alveolar type II pneumocyte morphology

description: Any structural abnormality of alveolar type 2 (ATII) cells.


name: Ivory epiphysis of the distal phalanx of the 4th finger

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


Anti-MIT3 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3.


name: Reduced circulating creatine concentration

description: An reduction below the normal range of creatine in the blood circulation.


Curved distal phalanx of the 5th toe

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


name: Cortical radial artery intima/media liquefactive necrosis

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


name: Abnormal left ventricular outflow tract morphology

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


Increased proportion of memory B cells

description: An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the 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).


name: Abnormal fetal central nervous system morphology

description: An anomalous structural finding of the fetal central nervous 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.


Caesarian section

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


name: Smooth septal thickening on pulmonary HRCT

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


Total hyposmia

description: Reduced ability to detect any qualitative olfactory sensation.


Platonychia

description: Abnormal flat nail.


Focal aware vocal automatism seizure

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


Focal atonic seizure

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


name: Anti-aminoacyl-tRNA synthetase antibody positivity

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


Frequent temper tantrums

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


acheiria

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


Patchy sclerosis of 2nd finger phalanx

description: Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger.


name: Abnormality of ductus venosus blood flow

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


Interictal epileptiform activity

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


name: Decreased specific antibody response to infection

description: A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection.


name: Accumulation of lipid droplets in small-bowel enterocytes


Generalized hirsutism

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


name: Predominantly dermal neutrophilic infiltrate

description: Collection of neutrophils in the dermis.


name: Decreased circulating metanephrine concentration

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


name: Abnormal circulating pregnenolone concentration

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


Exanthem

description: A widespread rash.


Occipital meningocele

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


Focal emotional seizure with pleasure

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


name: Abnormal female reproductive system physiology


Auditory sensitivity

description: Decreased tolerance to sound.


Abnormal lung lobation

description: A developmental defect in the formation of pulmonary lobes.


name: Abnormal circulating deoxycorticosterone level

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


Intrapartum fever

description: The occurence of maternal fever during labor.


aprosencephaly

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


Renal interstitial inflammation

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


Abdominal symptom

description: A subjective manifestation of disease localized to the abdomen.


Rosenthal fibers

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


name: Abnormal amyloid beta 40 peptide CSF concentration

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


Froment sign

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


name: Focal impaired awareness emotional seizure with paranoia

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


Increased level of galactitol in urine

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


Auditory hypersensitivity

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


Subcutaneous arteriolar thrombosis

description: Fibrin thrombi inside subcutaneous arterioles.


tricuspid valve stenosis

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


Body odor

description: A perceived unpleasant smell given off by the body.


Neurenteric cyst

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


Elevated urinary isovaleric acid level

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


name: Double inlet atrioventricular connection

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


atrophic glossitis

description: Glossy appearance of the entire tongue surface.


Anti-PKCgamma antibody

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


name: Elevated circulating 7-dehydrocholesterol concentration

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


Increased fecal coproporphyrin 1

description: Abnormally high concentration of coproporphyrin 1 in feces.


name: Patchy sclerosis of the distal phalanx of the hallux


name: Abnormal renal arteriole intima/media morphology

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


Abnormal proportion of memory T cells

description: An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response.


Congenital pouch colon

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


name: Abnormal CSF glutamine family amino acid concentration

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


Grasp reflex

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


name: Abnormal male urethral meatus morphology


Elevated urine glutaconic acid level

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


name: Abnormal blood urea nitrogen concentration

description: Any deviation from the normal concentration of urea nitrogen in the blood.


Single lineage myelodysplasia

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


Heavy proteinuria

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


Elevated urine malonic acid level

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


Subcutaneous spheroids

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


Infection-related seizure

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


Atrophy of the dentate nucleus

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


Delayed CNS myelination

description: Delayed myelination in the central nervous system.


Fetal tachycardia

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


Granulomatous cholangitis

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


name: Decreased CSF asialotransferrin to transferrin ratio

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


Renal tubular polyoma virus inclusions

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


Skin infectious agent

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


Super-refractory status epilepticus

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


name: Methicillin-resistant Staphylococcus aureus infection

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


Abnormality of the Achilles tendon

description: An abnormality of the Achilles tendon.


name: Increased anti-gluten IgE antibody level

description: Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye.


Abnormal thalamus morphology

description: An abnormality of the thalamus.


name: Increased anti-nut food product IgE antibody level

description: Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds.


name: Splenic lipid-laden macrophage infiltration

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


name: Focal cognitive seizure with dyscalculia/acalculia

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


name: Elevated urinary gamma-glutamylphenylalanine level

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


name: Increased anti-animal protein IgE antibody level

description: Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine.


Long penis

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


Fibrocellular crescent

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


Malignant rhabdoid tumor of the bladder

description: A rhabdoid tumor (a rare aggressive malignancies in infants and young children with a poor prognosis) originating in the urinary bladder.


name: Fractured epiphysis of middle phalanx of manus

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


Bowman capsular hyaline drops

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


Euthyroid hyperthyroxinemia

description: Increased levels of thyroxine without evidence of clinical thyroid disease.


name: Elevated circulating acetylcarnitine concentration

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


Anti-centromere antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components.


Absent pubic hair

description: Absence of pubic hair.


name: Abnormal circulating A-type atrial natriuretic peptide concentration

description: A measurable change 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.


Reduced responsiveness to social cues

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


Submucous cleft palate

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


Progressive proximal muscle weakness

description: Lack of strength of the proximal muscles that becomes progressively more severe.


name: Infracardiac total anomalous pulmonary venous connection

description: Type 3 total anomalous pulmonary venous connection.


Triangular-shaped open mouth

description: A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle.


Increased libido

description: Elevated sexual desire.


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


Abnormal spleen physiology

description: Any anomaly of the function of the spleen.


Soft skin

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


Interlobular bile duct destruction

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


Abnormal CSF threonine concentration

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


name: Triangular shaped phalanges of the 5th toe


Anti-P/Q-type VGCC antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs).


Abnormal cementum morphology

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


Inappropriate sinus tachycardia

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


xanthinuria type I

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


description: The presence of an antibody in the blood circulation that is directed against an antigen on the surface of erythrocytes (red-blood cells).


Hyperargininemia

description: An increased amount of arginine levels in the blood.


name: Abnormal mandible coronoid process morphology

description: An abnormality of a mandible coronoid process.


name: Elevated circulating carcinoembryonic antigen concentration

description: Concentration of the carcinoembryonic antigen (CEA) in the blood circulation above the upper limit of normal. CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker.


Hepatic calcification

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


Fetal vascular malperfusion

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


Decreased urinary epinephrine level

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


Abnormal motor evoked potentials

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


name: Thinning of the substantia nigra pars compacta

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


name: Increased fecal protoporphyrin concentration

description: Abnormally high concentration of protoporphyrin (derivative of porphyrin with propionic acid groups) in feces.


Recurrent shoulder dislocation

description: Shoulder dislocation occurring repeated times.


name: Stippling of the epiphyses of the 5th toe

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


name: Decreased small intestinal mucosa lactase level

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


Intralobar nephrogenic rest

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


Aspartic aciduria

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


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


Hypoargininemia

description: A decreased concentration of arginine in the blood.


Hepatic fibrosis

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


Ectopic tooth eruption

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


name: Abnormality of the bed nucleus of stria terminalis

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


name: Absent axon flare response after intradermal histamine injection

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


Fetal cerebral parenchymal hemorrhage

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


name: Abnormal circulating carnosine concentration

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


name: Large clumps of pigment irregularly distributed along hair shaft


name: Fractured distal phalanx of pedal digit 1

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


Facial cyanosis

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


Pulmonary thromboembolism

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


name: Duplication of the proximal phalanx of the hallux

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


Total colonic aganglionosis

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


Decreased platelet glycoprotein Ib

description: Decreased platelet cell membrane concentration of glycoprotein Ib.


Dilatation of the ventricular cavity

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


Increased cystatin C level

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


Malignant genitourinary tract tumor

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


Abnormal renal artery morphology

description: Any structural abnormality of the renal artery.


name: Magnesium ammonium phosphate crystalluria

description: Magnesium ammonium phosphate crystals in the urine.


name: Abnormality of peripheral nervous system electrophysiology

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


Low frustration tolerance

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


Frontal bossing

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


Anti-laminin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane.


name: focal epithelial hyperplasia of the oral mucosa

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


Akinesia

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


Generalized hypotrichosis

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


Spinning

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


Grayish enamel

description: A gray discoloration of the dental enamel.


name: Decreased circulating alpha-fetoprotein concentration

description: Concentration of alpha-fetoprotein in the blood circulation below the lower limit of normal.


penile agenesis

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


Anal mucosal leukoplakia

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


Ductal bile plugs

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


name: Anti-cyclic citrullinated peptide antibody positivity

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


Dysgenesis of the basal ganglia

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


Abnormality of the fascia

description: An abnormality of fascia.


Intrinsic hand muscle atrophy

description: Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.


Multiple renal cysts

description: The presence of many cysts in the kidney.


Bowel irritability

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


Abnormality of pulmonary circulation

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


coxa vara

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


Elevated natural killer cell count

description: The count of natural killer cells per volume of blood is above the upper limit of normal.


Crouch gait

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


Reduced tendon reflexes

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


Pseudocoarctation of the aorta

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


Atretic occipital cephalocele

description: A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues.


Abnormal larynx morphology

description: Any anomaly of the structure of the larynx.


name: Increased circulating hypoxanthine concentration

description: Elevated concentration of hypoxanthine in the blood circulation.


Focal vocal automatism seizure

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


Abnormal joint morphology

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


Abnormal cerebral ventricle morphology

description: Any structural abnormality of the cerebral ventricles.


name: Glomerular capillary wall duplication without cellular interposition

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


name: Increased glucose-6-phosphate dehydrogenase level in red blood cells

description: An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells.


Secondary amenorrhea

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


name: Increased anti-plant product IgE antibody level

description: Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen.


Lower cranial nerve dysfunction

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


Transient hyperphenylalaninemia

description: A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine).


name: Increased circulating insulin-like growth factor 1 concentration

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


name: Elevated circulating o-phosphoserine concentration

description: An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine.


name: Increased urinary 11-deoxycortisol level

description: An abnormally elevated concentration of 11-deoxycortisol in the urine.


name: Absent left sided atrioventricular connection

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


Fractured metatarsal bone of digit 5

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


Interrupted pituitary stalk

description: A developmental defect characterized by a discontinuity of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.


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

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


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

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


Abnormal vena cava morphology

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


Erythrocyte cylindruria

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


name: Increased circulating copper concentration

description: An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration.


Kinesiophobia

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


Knee pain

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


cervical vertebrae, agenesis of

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


Fossa navicularis urethral stricture

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


name: Decreased circulating purine concentration

description: Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.


2-ethylhydracylic aciduria

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


Intermittent lactic acidemia

description: An intermittent (discontinuous) form of lactic acidemia.


Abnormal auditory evoked potentials

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


Elevated fecal pH

description: Abnormally high fecal pH, i.e., abnormal alkalinity of feces.


Aplasia of the ovary

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


Grade V vesicoureteral reflux

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


Abnormal pulmonary vein physiology

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


name: hypertrichosis cubiti-short stature syndrome

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


Autoamputation of foot

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


Abnormal localization of kidney

description: An abnormal site of the kidney.


Abnormality of von Willebrand factor

description: Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.


name: Abnormality of the protein C anticoagulant pathway

description: An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC.


Geophagia

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


Intralobular septal thickening

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


EEG with periodic complexes

description: Periodically occurring generalized periodic complexes.


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


Draining sinus tract in skin

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


Apneic episodes in infancy

description: Recurrent episodes of apnea occurring during infancy.


name: Abnormality of hepatobiliary system physiology

description: A functional anomaly of the hepatobiliary system


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


name: Left aortic arch with retroesophageal right subclavian artery

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


Colonic arteriovenous malformation

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


name: Abnormal esterified to free carnitine ratio

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


name: Decreased proportion of class-switched memory B cells

description: A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.


name: Recurrent, involuntary, and intrusive distressing memories

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


Positive pathergy test

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


Duplication of proximal phalanx of toe

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


name: Increased level of hexanoylglycine in urine

description: Elevated concentration of hexanoylglycine in the urine.


name: Fibrofatty replacement of right ventricular myocardium

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


name: Metatarsal diaphyseal endosteal sclerosis

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


name: CSF anti-NMDA receptor antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.


Abnormality of uvular muscle

description: An abnormality of the uvular muscle


Gluten allergy

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


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

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


name: Small epiphysis of the distal phalanx of the hallux


name: Focal impaired awareness sensory seizure with cephalic sensation

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


Reduced hair sulfur content

description: Abnormally low amount of sulfur in hair.


name: Abnormal circulating beta globulin level

description: A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood.


name: Elevated urine 2-methylcitric acid level

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


Intraventricular hemorrhage

description: Bleeding into the ventricles of the brain.


Lip discoloration

description: Lightening or darkening of the lips from their usual coloring.


Plasmacytosis

description: An abnormally increased number of plasma cells in tissues, exudates, or blood


Vestibular areflexia

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


Polyalveolar lobe

description: An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold.


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

description: Complete duplication of the fourth proximal phalanx of hand.


Decreased circulating total IgM

description: An abnormally decreased level of immunoglobulin M (IgM) in blood.


Macronodular adrenal hyperplasia

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


name: Increased proportion of effector memory CD4-positive, alpha-beta T cells

description: An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


Repeated focal motor seizures

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


Premature skin wrinkling

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


name: Neonatal insulin-dependent diabetes mellitus


Pachygyria

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


Elevated urine erythritol level

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


Intercostal retractions

description: A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress.


Fetal intracranial hemorrhage

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


Dilated vas deferens

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


name: Decreased circulating iron concentration

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


Abnormal interest

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


Proximal amyotrophy

description: Amyotrophy (muscular atrophy) affecting the proximal musculature.


Abnormality of hair texture

description: An abnormality of the texture of the hair.


name: Impaired ristocetin-induced platelet aggregation

description: Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.


Hypothalamic atrophy

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


Duplication of phalanx of 2nd finger

description: This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


Renal tubular epithelial cell sloughing

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


name: Abnormal proportion of CD4-positive T cells

description: Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells.


name: Patchy sclerosis of the proximal phalanx of the hallux


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


Esophageal furrows

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


Talipes calcaneovarus

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


name: Increased carotid artery intimal medial thickness

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


Microscopic hematuria

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


Fluctuating splenomegaly

description: Intermittently increased size of the spleen.


name: Increased urinary 11-deoxytetrahydrocorticosterone level

description: An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine.


Facial edema

description: Swelling due to an excessive accumulation of fluid in facial tissues.


name: Extension of hair growth on temples to lateral eyebrow

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


Gastrointestinal telangiectasia

description: Telangiectasia affecting the gastrointestinal tract.


cervical cancer

description: A primary or metastatic malignant neoplasm involving the cervix.


Abnormal leukocyte morphology

description: An abnormality of leukocytes.


name: Focal impaired awareness pedal automatism seizure

description: A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.


name: Abnormal glucose-6-phosphate dehydrogenase level in red blood cells

description: An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells.


EEG with temporal sharp waves

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


Neuronal intranuclear inclusion bodies

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


Reduced object sharing

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


Tonofilament clumping

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


Hypertensive crisis

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


name: myeloproliferative disorder, chronic, with eosinophilia


Arcuate vein medial hypertrophy

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


name: Abnormality of the musculature of the thorax

description: A disease or lesion affecting the muscles of the thorax.


name: Reduced proportion of mucosal-associated invariant T cells

description: A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count.


Orthokeratotic hyperkeratosis

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


Ureteral mass

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


Abnormal coronary sinus morphology

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


Heart block

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


Posterior atrophy of corpus callosum

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


Abnormal atrial septum morphology

description: An abnormality of the interatrial septum.


Duplication of distal phalanx of toe

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


Decreased CSF epinephrine concentration

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


name: Agenesis of primary mandibular central incisor

description: Agenesis of lower primary incisor.


polyp of vocal cord

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


name: Increased CSF phenylalanine concentration

description: Abnormally increased levels of phenylalanine in cerebrospinal fluid.


Short fetal humerus length

description: A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).


ovarian thecoma

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


Leptomeningeal enhancement

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


Abdominal guarding

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


name: Fetal intraventricular hemorrhage with periventricular hemorrhage

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


name: Complete duplication of the phalanges of the 3rd finger

description: A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


name: Focal impaired awareness cognitive seizure with memory impairment

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


name: Abnormal circulating neopterin concentration

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


T2 hypointense thalamus

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


Elevated urinary D-glyceric acid level

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


Abnormal erythrocyte physiology

description: Any functional abnormality of erythrocytes (red-blood cells).


chronic otitis media

description: Chronic form of otitis media (disease).


triphalangeal thumb, Nonopposable

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


Brisk reflexes

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


name: Increased level of hippuric acid in urine

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


Fetal hydrothorax

description: Accumulation of lymphatic fluid in the pleural space. This finding is usually observed by prenatal sonography. Once neonatal feeding is established and the lymphatic fluid contains chyle, transformation to chylothorax may be observed.


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

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


Hypomethioninemia

description: A decreased concentration of methionine in the blood.


Thyroid adenoma

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


Abnormal hypnagogia

description: Abnormal transition of consciousness from wakefulness to sleep.


Sclerotic scapulae

description: Increased density of the bony tissue of the scapula.


name: Anti-asparaginyl-tRNA synthetase antibody positivity

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


Testicular fibrosis

description: Formation of excess connective tissue in the testicle.


name: Elevated circulating N-carbamoyl-beta-alanine concentration

description: An increased concentrationof N-carbamoyl-beta-alanine in the blood circulation.


distal renal tubular acidosis

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


Bowman-space proteinaceous debris

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


Digital pitting scar

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


Negative affectivity

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


Abnormal primary molar morphology

description: An abnormality of morphology of primary molar.


Osteosclerosis of the ulna

description: Osteosclerosis (increased density related to increased bone mass) of the ulna.


immunodeficiency disease

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


tinea profunda

description: A dermatophytosis that involves the deep dermal layers.


Impaired self monitoring

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


Colonic fibrinopurulent exudate

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


Disseminated histoplasmosis

description: Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS.


Cystic pattern on pulmonary HRCT

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


Increased hepatocellular lipid droplets

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


Decreased size of nerve terminals

description: A reduction in the size of nerve terminals.


Palilalia

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


Prenatal flattened diaphragm

description: The diaphragm normally projects up into the thoracic cavity. In the presence of malformations such as enlarged lungs, the diaphragm may appear abnormally flat or even everted (with the middle of the diaphragm projecting downwards into the abdominal cavity).


name: Anti-topoisomerase I antibody positivity

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


Gaze avoidance

description: A deliberate avoidance of eye contact.


Abnormal eating behavior

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


Ductus venosus agenesis

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


Breast myxoma

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


Abnormal testis morphology

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


Increased urinary phosphoserine level

description: An increased level of phosphoserine in the urine.


Renal chloride wasting

description: High urine chloride in the presence of hypochloridemia.


arachnoid cyst

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


Pulmonary nodule

description: Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging.


Dorsal hirsutism

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


Abnormal pitch

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


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

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


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

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


congenital absence of septum pellucidum

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


name: Abnormality of levator veli palatini muscle

description: An abnormality of a levator veli palatini.


name: Posterior fossa cyst at the fourth ventricle


name: Elevated circulating apolipoprotein A-IV concentration

description: An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II.


Spermatogenesis maturation arrest

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


Mesangial matrix expansion

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


name: Spinal stenosis with reduced interpedicular distance

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


Positive stool Giardia antigen test

description: Fecal analysis for Giardia antigen is abnormal. Tests include direct fluorescent-antibody (DFA), which detect sintact organisms, and enzyme immunoassays (EIAs), which detect soluble stool antigens.


Abnormality of muscle size

description: Abnormalities of the overall muscle bulk based on clinical observation.


Comedonal acne

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


name: Elevated circulating growth hormone-releasing hormone concentration

description: Concentration of growth hormone-releasing hormone above the upper limit of normal in the blood circulation.


prolapse of urethra

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


Petechiae

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


Sagittal craniosynostosis

description: A kind of craniosynostosis affecting the sagittal suture.


name: Congenital malformation of the great arteries

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


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

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


Acephalic spermatozoa

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


Hypercapnia in cord blood

description: Abnormally elevated blood carbon dioxide (CO2) level in the cord blood.


Gastrointestinal angiodysplasia

description: Dysplasia affecting the vasculature of the gastrointestinal tract.


tooth ankylosis

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


Buttock pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the buttock (round fleshy area at the lower rear area of a human trunk).


Cervical motion tenderness

description: Pain that is elicited by moving the uterine cervix. This finding can be ascertained by pelvic exam. Cervical motion tenderness is a gynecological exam finding that could be indicative of peritoneal infection.


Abnormal umbilicus morphology

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


name: Absence of stomach bubble on fetal sonography

description: By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation.


name: Anti-asialoglycoprotein receptor antibody positivity

description: Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation.


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


Persistent left superior vena cava

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


Tongue neurofibroma

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


Hypohistidinemia

description: A decreased amount of histidine in the blood.


Self-neglect

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


Bulbous tooth

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


name: Nodular-random pattern on pulmonary HRCT

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


name: Double inlet to single ventricle with common atrioventricular orifice


name: Eosinophilic microabscess formation in the esophagus

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


Lower limb amyotrophy

description: Muscular atrophy affecting the lower limb.


Abnormality of the gingiva

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


name: Abnormal response to glucagon stimulation test

description: An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH).


Recurrent joint dislocation

description: Dislocation of a given joint repeated times.


Scrotal pain

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


Postmenopausal bleeding

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


Abnormal postural reflex

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


craniofacial dystonia

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


Hyperlysinuria

description: An increased concentration of lysine in the urine.


acromial dimples

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


Abnormal aortic valve morphology

description: Any abnormality of the aortic valve.


Night sweats

description: Occurrence of excessive sweating during sleep.


pulmonary subvalvular stenosis

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


Decreased heart rate variability

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


Elevated urinary dihydrothymine level

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


Sclerosis of hand bone

description: Osteosclerosis affecting one or more bones of the hand.


Decreased level of erythritol in urine

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


Abnormal CSF serine concentration

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


Tubular microcystic change

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


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


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

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


Tapered tooth

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


Type VI atherosclerotic lesion

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


name: Abnormal circulating threonine concentration

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


name: Increased extraneuronal autofluorescent lipopigment

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


Freezing of gait

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


Decreased CSF glutamate concentration

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


Generalized edema

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


name: EEG with generalized epileptiform discharges

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


Long uvula

description: Increased length of the uvula.


name: Elevated circulating medium-chain acylcarnitine concentration

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


Recurrent fever

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


description: Absence or underdevelopment of the nasopharyngeal adenoids.


name: Decreased platelet glycoprotein IIb-IIIa

description: Decreased cell membrane concentration of glycoprotein IIb-IIIa.


Abnormal arcuate artery morphology

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


name: Focal aware sensory seizure with olfactory features

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


Renal medullary hyperechogenicity

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


Acute demyelinating polyneuropathy

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


name: Abnormal glomerular visceral epithelial cell morphology

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


Increased CSF threonine concentration

description: Abnormally increased levels of threonine in cerebrospinal fluid.


Fractured shoulder bone

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


name: Abnormal circulating nucleobase concentration

description: An abnormality of a nucleobase metabolic process.


Abnormal urinary odor

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


Abnormal right atrium morphology

description: Any structural abnormality of the right atrium.