Abnormal thorax morphology

description: Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).


Abnormal cardiac ventricle morphology

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

description: An abnormality of a cardiac ventricle.


laurin-Sandrow syndrome

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

description: Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.


Nevus roseus

description: A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life.


Total anosmia

description: Inability to detect any qualitative olfactory sensation.


Legg-Calve-Perthes disease

description: A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible.


Displacement of the papillary muscles

description: Abnormal location of the insertion of a papillary muscle into the left ventricular wall.


Elevated urinary dolichol level

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


Mucopolysacchariduria

description: Excessive amounts of mucopolysaccharide in the urine.


Submucous cleft lip

description: A cleft of the lip with overlying mucous membrane.


EEG with focal epileptiform discharges

description: EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Rectal perforation

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


name: Abnormal glomerular basement membrane morphology

description: Any abnormal sttructure of the glomerular basement membrane.


Rubral tremor

description: Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements.


Fusiform abdominal aortic aneurysm

description: A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall


Tip-toe gait

description: An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.


name: Abnormality of the upper respiratory tract

description: An abnormality of the upper respiratory tract.


Irregular myelin loops

description: Presence of irregular redundant loops of focally folded myelin in a peripheral nerve.


adenoiditis

description: An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil.


Asplenia

description: Absence (aplasia) of the spleen.


chondrosarcoma

description: A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion.


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


Abnormal peripheral myelination

description: An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.


Focal aware seizure

description: A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.


name: Congenitally corrected transposition of the great arteries with ventricular septal defect

description: A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum.


spinal cord neoplasm

description: A neoplasm (disease) that involves the spinal cord.


Thick corpus callosum

description: Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain.


Osseous syndactyly of toes

description: Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".


name: Complete duplication of the distal phalanx of the 5th toe

description: Complete duplication of the distal phalanx of little toe.


name: Orthodromic atrioventricular reentrant tachycardia

description: A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction.


Renal interstitial deposits

description: Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney.


Abnormal head blood vessel morphology

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


Vaginal foreign body sensation

description: A perception that an object located in the vagina.


Left-to-right shunt

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


name: hereditary thrombophilia due to congenital protein C deficiency

description: Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.


Sleep-related breathing disorders

description: Conditions of abnormal and difficult respiration during sleep, including chronic snoring and sleep apnea.


cerebral infarction

description: An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries.


Serpiginous cutaneous lesion

description: A skin lesion with a snake- or serpent-like distribution.


Vaginal hydrocele

description: A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable.


Elevated urinary bile acid level

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


neoplasm of jaw

description: A neoplasm (disease) that involves the jaw skeleton.


name: Abnormal common carotid artery morphology

description: An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery.


name: Esophageal myenteric plexus degeneration

description: Deterioration of the cells of the myenteric plexus (also known as the Auerbach plexus) located between the layers of the muscular propria of the esophagus.


intellectual disability

description: A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.


Glomerular basement membrane disruption

description: A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver.


Epileptic encephalopathy

description: A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.


name: hyperphenylalaninemia due to tetrahydrobiopterin deficiency

description: Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.


Emotional blunting

description: Inability to feel positive or negative emotions, feelings of detachment, or reduced emotional responsiveness.


hypersensitivity vasculitis

description: A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer.


Recurrent vulvovaginal candidiasis

description: Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.


Arcuate vein medial/intimal necrosis

description: Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney.


Dentin dysplasia

description: This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications.


Gray matter heterotopia

description: Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.


Clinical course

description: The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual.


Lymph node hypoplasia

description: Underdevelopment of the lymph nodes.


Hallux rigidus

description: Osteoarthritis of the metatarsophalangeal joint of the first toe.


Pretibial hyperpigmentation

description: Darkening of the area of skin that overlies the shin.


Generalized clonic seizure

description: Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.


name: Bullet-shaped middle phalanx of the 5th toe

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


Increased hepatic glycogen content

description: An increase in the amount of glycogen stored in hepatocytes compared to normal.


Decreased CSF amyloid concentration

description: Reduced concentration of amyloid in the cerebrospinal fluid (CSF).


ganglioglioma

description: A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)


name: Prominent nucleoli of renal tubular epithelial cells

description: Tubular epithelium with nucleoli clearly visible at 100-fold magnification.


Abnormality of the abdominal wall

description: The presence of any abnormality affecting the abdominal wall.


Low anterior hairline

description: Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.


Pancreatic islet cell adenoma

description: The presence of an adenoma of the pancreas with origin in a pancreatic B cell.


Abnormal aortic arch morphology

description: An anomaly of the arch of aorta.


Tactile hallucination

description: Perception of touch without a tactile stimulus.


BCGosis

description: Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.


Ectopic accesory toe-like appendage

description: In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).


name: Parathormone-independent increased renal tubular calcium reabsorption

description: An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.


Absent first metatarsal

description: A developmental defect characterized by the absence of the first metatarsal bone.


Diminishment of emotional expression

description: A reduction in the tendency of a person to express emotions that is typically noticed as a change in behavior by family members or peers.


basal ganglia disorder

description: A disease involving the basal ganglia.


Congenital abnormal hair pattern

description: A congenital abnormality of the distribution of hair growth.


description: Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome.


Munchausen by proxy

description: A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.


Poroma

description: A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273].


Exogenous lipoid pneumonia

description: A type of lipoid pneumonia in which the source of the lipids is external to the body.


name: Renal tubular epithelial cell simplification

description: Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts.


name: Decreased urinary catecholamine concentration


Upper extremity akinesia

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


Hypoplastic thumbnail

description: A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail.


sarcoma

description: A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.


Aborted sudden cardiac death

description: Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it.


name: Abnormal renal collecting system morphology

description: An abnormality of the renal collecting system.


Non-acidotic proximal tubulopathy

description: A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss.


Excessive dental attrition

description: A higher than expected amount of attrition of teeth, as menifested by loss of tooth characteristics including rounding or sharpening of incisal edges, loss of cusps, and fracturing of teeth, to an extent that is deemed more than would be expected at a given age.


name: Contracture of the metatarsophalangeal joint of the 5th toe

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


Perioral hyperpigmentation

description: Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips.


Fractured maxilla

description: A partial or complete breakage of the maxilla.


gamma-heavy chain disease

description: Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.


Triceps hyperreflexia

description: Increased intensity of the triceps reflex.


Brachioradialis hyporeflexia

description: Reduced intensity of the brachioradialis tendon reflex.


lactic acidosis

description: Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia.


Suicide behaviors

description: Suicide attempts or preparations


name: Snowstorm pattern of uterus on ultrasound

description: A sonographic snowstorm pattern of the uterusresults from the presence of a complex vesicular intrauterine mass containing many grape-like cysts.


kleptomania

description: A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft.


Trichodysplasia

description: Developmental dysplasia of the hair.


Enlarged gastric folds

description: Giant gastric folds are recognized at endoscopy as an increase in the size of the gastric rugae and a lack of flattening.


Abnormal nasopharynx morphology

description: A structural anomaly of the nasopharynx.


Impaired tactile sensation

description: A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.


Increased myocardial glycogen content

description: Elevated amount of glycogen in the myocardium.


Quadricuspid aortic valve

description: The presence of an aortic valve with four instead of the normal three cusps (flaps).


Multidrug-resistant nephrotic syndrome

description: A form of nephrotic syndrome that does not respond to any immunosuppresive treatment.


Hepatic necrosis

description: The presence of cell death (necrosis) affecting the liver.


name: Focal aware emotional seizure with anger

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


Brown pigment gallstones

description: A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones.


Temporal hypotrichosis

description: Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).


Bullet-shaped proximal toe phalanx

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


name: Abnormality of the epiphyses of the 4th toe


platelet aggregation, spontaneous

description: Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation.


Abnormality of secondary sexual hair

description: Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.


Interlobular septal thickening

description: Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.


Left-right disorientation

description: A tendency to mix up left and right in one's own body space, typically elicited by asking a person to perform a two-stage command involving specified lateralized anatomy.


Recurrent thromboembolism

description: Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.


name: Reduced epidermal extracellular matrix protein 1 protein expression

description: Lower than normal amount of extracellular matrix protein 1 (ECM1) in the epidermis.


Focal impaired awareness motor seizure

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


name: Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes


Hypoplastic sweat glands

description: Underdevelopment of the sweat glands.


Lower limb dysmetria

description: A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg.


Agenesis of maxillary central incisor

description: Agenesis of upper secondary incisor or of upper central primary incisor.


Transient psychotic episodes

description: Relatively short-lived periods of psychosis are characterized by the sudden onset of severe disturbances in perception, thinking, and behavior. These episodes typically last for a brief duration, generally ranging from a few days to a few weeks, and are often triggered by a significant stressor or traumatic event.


Muted facial expression

description: A tendency to produce facial expressions with decreased intensity or expressivity which appear muted or flat.


Abnormal lingual nerve morphology

description: Any structural anomaly of a lingual nerve.


name: Deep cerebral white matter hyperintensities

description: Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system.


Glomerular deposits

description: An abnormal accumulation of protein in the glomerulus.


Bloody mucoid diarrhea

description: Passage of many stools containing blood and mucus.


Ureteral duplication

description: A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.


Dilatation of the tricuspid annulus

description: An increase in the diameter of the ring (annulus) of the tricuspid valve.


Localized skin lesion

description: A lesion of the skin that is located in a specific region rather than being generalized.


Unroofed coronary sinus

description: Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion.


name: Apical muscular ventricular septal defect

description: A muscular ventricular septal defect located at the apex of the heart.


Muscle hemorrhage

description: Bleeding occuring within a muscle


Type 1 schizencephaly

description: A type of Schizencephaly in which there is a trans-mantle column of abnormal gray matter but no evidence of a CSF-containing cleft on MR imaging.


Brachioradialis areflexia

description: Inability to elicit brachioradialis tendon reflex.


Fractured clavicle bone

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


Abnormal large intestine morphology

description: Any abnormality of the large intestine.


communicating hydrocephalus

description: An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations.


discoid lupus erythematosus

description: A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE).


name: Glycogen accumulation in pulmonary interstitial cells

description: Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells.


Abnormal circulating glycerol level

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


Sacral meningocele

description: A congenital abnormality in the sacral region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.


name: Glomerular basement membrane amyloid spicule

description: Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains.


Pulmonary cylindroma

description: A cylindroma located in the lung. Cylindromas are well-circumscribed, smooth, pale pink nodular tumors, often with arborizing vessels visible. The tumors are slow growing and vary in size from a few millimeters to over 5 mm.


Fusiform cerebral aneurysm

description: A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery.


congenital pulmonary sequestration

description: A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation.


Abnormal size of pituitary gland

description: A deviation from the normal size of the pituitary gland.


vagus nerve paraganglioma

description: A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia.


Insulin-resistant diabetes mellitus

description: A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.


Anal intraepithelial neoplasia

description: Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer.


Paroxysmal lethargy

description: Repeated episodes of sudden-onset and transient lethargy.


Plantar edema

description: An abnormal accumulation of fluid beneath the skin on sole of the foot.


Closed neural tube defect

description: A type of neural tube defect that is covered by skin.


Increased urinary sulfite level

description: The concentration of SO3(2-), i.e., sulfite, in the urine, normalized for urine concentration, is above the upper limit of normal.


Foot polydactyly

description: A kind of polydactyly characterized by the presence of a supernumerary toe or toes.


name: Cone-shaped epiphysis of the distal phalanx of the 3rd toe


Obstructive azoospermia

description: Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.


Bilirubinuria

description: Presence of conjugated bilirubin in the urine.


B-cell neoplasm

description: A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes.


name: histidinuria due to a renal tubular defect

description: An increased concentration of histidine in the urine.


Inferior crossed fused renal ectopia

description: A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position).


Abnormal lateral ventricle morphology

description: A morphological anomaly of the lateral ventricle.


name: Atrophy/Degeneration affecting the cerebrum

description: The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain.


testicular microlithiasis

description: The deposition of calcium phosphate microliths within the seminiferous tubules.


name: Abnormal cortical radial artery morphology

description: Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney.


Spinal cord compression

description: External mechanical compression of the spinal cord.


name: Focal aware motor seizure with dysarthria/anarthria

description: A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure.


Cerebral artery atherosclerosis

description: The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain.


Abnormal urinary sulfate concentration

description: Abnormal concentration of sulfate in the urine.


name: Abnormal aggressive, impulsive or violent behavior


Increased urinary mucus

description: An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis.


Pulmonary arterial plexiform lesion

description: Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels.


Febrile status epilepticus

description: A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult.


Non-periodic recurrent fever

description: Episodic fever that recurs at irregular intervals.


Abnormal rapid eye movement sleep

description: Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tone except for the eye and middle-ear muscles. There are also phases of rapid eye movements.


Retroperitoneal paraganglioma

description: A paraganglioma (previously refered to as chemodectoma) located in the retroperitoneal space. Paragangliomas (also known as extra-adrenal pheochromocytomas) are rare tumors that arise from extra-adrenal chromaffin cells. Paragangliomas are characterized by secretions of excessive catecholamines, including epinephrine, norepinephrine and dopamine, which may lead to clinical symptoms, including episodic hypertension, tachycardia and diaphoresis. However, between 40 and 50% of paragangliomas are non-functional.


Aplasia of the left hemidiaphragm

description: Congenital absence of the left half of the diaphragm.


Abnormal neuron morphology

description: A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions.


Vasospasm

description: Narrowing of an artery due to constriction of the blood vessels.


Appendicitis

description: Appendicitis is inflammation of the vermiform appendix. Appendix a hollow organ located at the tip of the cecum, usually in the right lower quadrant of the abdomen.


Abnormal reproductive system morphology

description: A structural or developmental anomaly of any of the tissues involved in the genital system.


name: Elevated right ventricular systolic pressure

description: Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg.


Epileptic aura

description: An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure.


Postaxial foot polydactyly

description: Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.


name: Abnormal CSF carboxylic acid concentration

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


hyperalphalipoproteinemia

description: An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease.


name: Focal impaired awareness manual 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 manual automatisms at onset.


Fractures, Open

description: A traumatic break to the bone in which the continuity of the bone has broken through the skin.


Focal aware non-motor seizure

description: A focal non-motor seizure in which awareness is retained throughout the seizure.


Fractured phalanx of pes

description: A partial or complete breakage of the phalanx of pes.


malignant ear neoplasm

description: A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear.


Increased urine glutamate level

description: An increased concentration of glutamate in the urine.


name: Nodular-perilymphatic pattern on pulmonary HRCT

description: A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution.


precocious puberty in female

description: A precocious puberty that involves the female organism.


Abnormal urinary acylglycine profile

description: An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution.


Scanning speech

description: An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.


Ventricular septal aneurysm

description: A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion.


spondylitis

description: The inflammation of a vertebra.


name: Elevated circulating follicle stimulating hormone level

description: An elevated concentration of follicle-stimulating hormone in the blood.


cardiac rhythm disease

description: Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart.


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

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe.


Scalloped appearance of liver surface

description: A lesion associated with pseudomyxoma peritonei whosetypical CT appearance is scalloping of the surface of the liver and spleen caused by loculated accumulations of mucin, which distinguishes mucin from fluid ascites. The mucinous material is similar in density to water. There are also islands of higher attenuation due to scattered solid elements and calcification within mucinous material.


Subependymal nodules

description: Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis.


Partially duplicated kidney

description: The presence of a partially duplicated kidney.


Abnormality of the skeletal system

description: An abnormality of the skeletal system.


distal arthrogryposis

description: A muscle tissue disease characterized by congenital joint contractures of hand and feet.


Abnormal thalamic MRI signal intensity

description: A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus.


Self-cutting

description: Deliberate harm to one's body, in the form of cutting that results in tissue damage, without a conscious intent to die.


Oral aversion

description: Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing).


renal hypoplasia, bilateral

description: Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present.


Positive regitine blocking test

description: A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.


Increased CSF tyrosine concentration

description: Abnormally increased levels of tyrosine in cerebrospinal fluid.


name: Elevated circulating glutarylcarnitine concentration

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


Right coronary artery ostial atresia

description: Absence of the normal opening of the coronary ostium from which the right main coronary artery originates.


Partial absence of cerebellar vermis

description: Congenital absence of a part of the vermis of cerebellum.


Glomerular fibronectin deposits

description: Accumulation of fibronectin in the glomerulus.


Ivory epiphyses of the 5th toe

description: Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


Neurogenic bladder

description: A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.


name: Elevated urinary indoleacetic acid level

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


name: Reduced circulating octadecenoylcarnitine concentration

description: Concentration of octadecenoylcarnitine (C18:1 acylcarnitine) in the blood circulation below the lower limit of normal.


Aplasia/Hypoplasia of the bladder

description: Absence or underdevelopment of the urinary bladder.


Enlarged kidney

description: An abnormal increase in the size of the kidney.


name: Decreased low-density lipoprotein particle size

description: An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation.


name: Partial duplication of the proximal phalanx of the hallux

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


Reflex seizure

description: Seizures precipitated by exogenous stimuli.


Tongue thrusting

description: Pressing forward of the tongue in the mouth, a retained motoric habit from infantile swallowing patterns


Aminoglycoside-induced hearing loss

description: Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics.


Increased CSF histidine concentration

description: Abnormally increased levels of histidine in cerebrospinal fluid.


Misalignment of the pulmonary veins

description: The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins.


Pruritis on abdomen

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


Dysplastic megalencephaly

description: A congenital brain malformation characterized by marked overgrowth and dysplasia affecting one or both cerebral hemispheres, and, in some cases, subcortical brain regions as well. The presence of dysplasia in dysplastic megalencephaly distinguishes it from other forms of generalized megalencephaly.


Broad toe

description: Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.


Glomerular capillary collapse

description: Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs).


Affective epileptic aura

description: Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.


Absence of memory B cells

description: Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin.


Single transverse palmar crease

description: The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.


Thoracocervical ectopia cordis

description: A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum.


epididymitis

description: Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord.


Large vessel vasculitis

description: A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.


Perioral radial furrowing

description: The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976).


name: Failure to increase oxygen saturation on hyperoxia test

description: Hyperoxia test is the initial method to distinguish critical congenital heart disease (CCHD) from pulmonary disease. The test consists in measuring an arterial blood gas at room air and 100% inspired oxygen after 10 minutes. Neonates with congenital heart disease are usually not able to increase PaO2 above 100 mm Hg during 100% oxygen administration. In patients with pulmonary disease, PaO2 generally increased greater than or equal to 100 mm Hg with 100% oxygen as ventilation-perfusion discrepancies are overcome. A positive result indicates the cardiac origin and further cardiac workup is indicated to rule out CCHD.


Failure of eruption of permanent teeth

description: Lack of tooth eruption of the secondary dentition.


Popliteal pterygium

description: A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).


Sacral lipoma

description: Presence of a lipoma in the region of the sacrum.


Fallopian tube mass

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


name: Abnormal circulating organic compound concentration

description: Any deviation of the concentration of an orrganic compound from the normal range. An organic compound is defined as any compound that contains a carbon atom.


name: Elevated CSF 4-hydroxybutyric acid concentration

description: Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF).


Short hallux

description: Underdevelopment (hypoplasia) of the big toe.


double outlet left ventricle

description: Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle.


name: Orthostatic hypotension due to autonomic dysfunction


Venous malformation

description: A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.


Abnormal penis morphology

description: Abnormality of the male external sex organ.


Atypical gestures

description: Spontaneous production of communicative gestures that are perceived as odd or mechanical, or are poorly integrated with other means of communication. This may include inaccurate mimicry of typical gestures.


Palmoplantar hyperkeratosis

description: Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.


Increased CSF valine concentration

description: Any increased amount from normal of valine in the cerebrospinal fluid.


name: Elevated fetal middle cerebral artery peak systolic velocity

description: Increased peak systolic velocity of the fetal middle cerebral artery (MCA) as evaluated by Doppler ultrasound.


Cytomegalovirus colitis

description: A form of cytomegalovirus infection characterized by infection and inflammation of the colon.


name: Conus terminalis arteriovenous malformation


porokeratosis

description: A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella.


Dystonic gait

description: Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients.


Cortical radial artery medial atrophy

description: Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.


Abnormal hepatic glycogen storage

description: Change in normal glycogen storage content.


Absent dermal elastic fibers

description: Elastic fibers not demonstrable in skin biopsy.


Orthostatic tachycardia

description: An increase in heart rate with standing of 30 beats per minute or more.


fissured tongue

description: Accentuation of the grooves on the dorsal surface of the tongue.


Macrocephaly at birth

description: The presence of an abnormally large skull with onset at birth.


Splinter hemorrhages

description: Thin, red to reddish-brown lines of blood (hemorrhages) under the nails. Splinter hemorrhages run vertically under the nails.


Onion bulb formation

description: Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.


name: Symphalangism affecting the proximal phalanx of the hallux


Urinary oval fat bodies

description: The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets.


name: Nonocclusive coronary artery atherosclerosis

description: Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries.


Abnormal judgment

description: Beliefs that deviate from what is considered rational or within the range of normal human judgment and belief formation.


Abnormal descending aorta morphology

description: A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen.


Panic attack

description: A sudden episode of intense fear in a situation where there is no danger or apparent cause.


Gingival hyperkeratosis

description: Hyperkeratosis of the gingiva.


Hypoplastic fifth toenail

description: Underdeveloped nails of the fifth toes.


Absent palmar crease

description: The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).


Abnormal forebrain morphology

description: An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.


Dilatation of renal calices

description: An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine.


name: Hyperintensity of cerebral white matter on MRI

description: A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.


Unhappy demeanor

description: A noticeably unhappy disposition is characterized by negative assumptions, self-defeating talk, fear of failure, and negative rumination about past events.


Broad hallux

description: Visible increase in width of the hallux without an increase in the dorso-ventral dimension.


Abnormal second toe morphology

description: An anomaly of the second toe.


Curved middle phalanx of the 5th toe

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


Swiss cheese atrial septal defect

description: Multiple defects in the atrial septum.


larynx atresia

description: A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation.


Small intestinal bleeding

description: Bleeding from the small intestine.


name: Increased theta frequency activity in EEG

description: Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution.


Abnormal HDL2b concentration

description: Any deviation from the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.


Spontaneous chorioamniotic separation

description: Persistence separation of the chorionic and amnionic membranes after the 16th week of gestation (not as a result of a procedure such as amniocentesis).


name: Pancreatic intraductal papillary mucinous neoplasm

description: Intraductal papillary mucinous neoplasm (IPMN) is an exocrine neoplasm of the pancreas consisting of epithelial cells growing within the pancreatic ducts (main pancreatic duct or its major branches) and producing mucin. IPMN is a mucin-producing pancreatic cystic tumor. IPMN contains epithelial cells that can create papillary projections.


Boerhaave syndrome

description: A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part.


osteosclerosis

description: Abnormally high bone density.


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

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


Abnormal communication

description: Presence of any form of communication (e.g., verbal or non-verbal) that does not align with cultural expectations or developmental level.


Curved middle phalanx of the 2nd toe

description: A deviation from the normal straight form of the middle phalanx of the 2nd toe.


brachydactyly

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


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

description: Complete duplication of proximal phalanx of third toe.


Aplasia of the lower vagina

description: A failure to develop of the lower part of the vagina.


hyperpigmentation of the skin

description: Darkening of the skin due to excessive melanin deposition. Causes include skin injuries, pregnancy, eczema, and Addison disease.


Increased hepatic echogenicity

description: Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device.


name: Anomalous origin of left subclavian artery

description: Origin of the left subclavian artery from an anomalous anatomical location.


Discordant atrioventricular connection

description: Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart.


Calcium phosphate crystalluria

description: The presence of calcium phosphate crystals in the urine.


name: Fractured distal phalanx of pedal digit 3

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


Thyroid nodule

description: A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland.


Recurrent pancreatitis

description: A recurrent form of pancreatitis.


name: Aplasia of the middle phalanx of the 5th toe


rhabdoid tumor of the kidney

description: A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor.


Avulsion fractured tibia

description: A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma.


Abnormal speech volume

description: Speech that is abnormally loud or quiet for the social context in which it is spoken.


Reduced amygdala volume

description: A decrease in the volume (size) of the amygdyla.


gonadal dysgenesis

description: A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.


name: Abnormality of the epiphysis of the distal phalanx of the 4th toe


name: Exaggerated rugosity of the labia majora

description: Marked rugae formation of the skin of the labia majora.


Anorectal abscess

description: An abscess located at the junction of the anal canal and the rectum.


Temporal cortical atrophy

description: Atrophy of the temporal cortex.


Phenylalaninuria

description: Increased level of phenylalanine in urine.


urethral obstruction

description: Blockage of the normal flow of urine in the urethra.


Elevated urinary butyric acid level

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


Visceral hallucination

description: A type of hallucination that involves the perception of internal bodily sensations or processes that do not actually exist.


Abnormal sperm mid-piece morphology

description: A structural abnormality of the sperm mid-piece.


Vertebral 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 vertebral artery.


Enlarged tectum

description: Increasaed size of the tectum, which is the region of the midbrain posterior to the cerebral aqueduct of Sylvius. The midbrain is the most superior portion of the brainstem.


Pulmonary valve defects

description: Any defect in the valve connecting the heart and the pulmonary artery.


Cardiac teratoma

description: A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumor size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone.


Triplomyelia

description: Triplication of the spinal cord - extremely rare.


Penile thrush

description: Overgrowth of candida albicans in the penis.


Follicular hyperkeratosis

description: A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.


name: Fibrillar glomerular subepithelial deposits

description: Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).


Aplasia cutis congenita of scalp

description: A developmental defect resulting in the congenital absence of skin on the scalp.


Inability to walk

description: Incapability to ambulate.


name: Focal aware emotional seizure with crying

description: Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout.


Ovarian torsion

description: Ovarian torsion is a twisting of the ligaments that support the adnexa, cutting off the blood flow to the ovary.


Absent pulse

description: The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination.


name: Left aortic arch with isolated subclavian artery

description: The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis.


Temporal lobe calcification

description: The presence of calcium deposition within the temporal lobe of the brain.


ST segment depression

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


congestive splenomegaly

description: A chronic congestive enlargement of the spleen leading to the destruction of blood cells resulting in pancytopenia.


Fractured forearm bones

description: Bone fracture in the radius, ulna, or wrist.


name: Multinucleation of renal tubular epithelial cells

description: Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view.


Sertoli cell-only phenotype

description: A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis.


name: Sclerosis of the middle phalanx of the 5th toe


Decreased acrosin in sperm head

description: A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process.


Aplasia of the sweat glands

description: Absence of the sweat glands.


Ileal atresia

description: An abnormal closure, or atresia of the tubular structure of the ileum.


Torsion of appendix of testis

description: The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention.


name: Elevated circulating C6 acylcarnitine concentration

description: Concentration of C6 acylcarnitines in the blood circulation above the upper limit of normal. C6 acylcarnitines have a six-carbon acyl chain.


Microphallus

description: Length of penis more than 2 SD below the mean for age accompanied by hypospadias.


Arterial occlusion

description: Blockage of blood flow through an artery.


name: Increased level of methylsuccinic acid in urine

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


Thinking-induced seizure

description: Seizures induced by thinking and decision-making.


photosensitivity disease

description: Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.


Clonic seizure

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


Glomerular capillary wire loop deposits

description: Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop.


Increased urinary glycerol

description: An increased concentration of glycerol in the urine.


Increased overbite

description: Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm.


name: Elevated CSF guanidinoacetic acid concentration

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


Vaginal bleeding during sex

description: Bleeding during sex.


brachydactyly type D

description: A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1.


Pressured speech

description: There has been an increase in the amount of spontaneous speech, which is generally continuous, rapid, loud, and difficult to interrupt. It may sometimes be incoherent and continue even when no one is listening.


Decreased liver function

description: Reduced ability of the liver to perform its functions.


name: Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio

description: The relative concentration of tetrahydrocortisol plus 5-alpha-tetrahydrocortisol relative to that of tetrahydrocortisone is below the lower limit of normal.


name: Increased urine pentacarboxylporphyrin level

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


coccidioidomycosis

description: A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease.


lobar holoprosencephaly

description: Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.


Aplastic colon

description: Congenital absence of the colon


Abnormal cerebrospinal fluid morphology

description: An abnormality of the cerebrospinal fluid (CSF).


description: Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, and in association with other features.


Aortic valve leaflet calcification

description: Deposition of calcium salts in the leaflets (cusps) of the aortic valve.


Mid-frequency hearing loss

description: A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz).


Abnormal gesture use

description: Abnormality in the use of gestures defined as hand, shoulder, and head movements that convey a shared meaning within a culture that replace or supplement verbal communication.


Frontal venous angioma

description: A venous angioma of the frontal lobe of the brain.


Hypoglycemic encephalopathy

description: Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage.


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


Abnormality of the pineal gland

description: An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.


name: Postlingual sensorineural hearing impairment

description: A form of sensorineural hearing impairment with onset after the acquisition of speech.


Telangiectasia of the oral mucosa

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


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


Abnormal biliary tract morphology

description: A structural abnormality of the biliary tree.


name: Multilamellation of cortical peritubular capillary basement membranes

description: Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers.


name: Dilatation of Inferior mesenteric artery

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


name: Symphalangism affecting the proximal phalanx of the 5th toe


name: Elevated urinary isovalerylglycine level

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


Open neural tube defect

description: A type of neural tube defect that is not covered by skin.


Abnormal T-wave

description: An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.


Atrial situs inversus

description: Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.


name: Focal aware orofacial automatism seizure

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


name: Increased urinary multiantennary sialylated oligosaccharide

description: An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine.


laryngostenosis

description: Narrowing of the laryngeal airway.


name: Elevated circulating C18 acylcarnitine concentration

description: Concentration of C18 acylcarnitines in the blood circulation above the upper limit of normal. C18 acylcarnitines have a eighteen-carbon acyl chain.


Typical absence status epilepticus

description: Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure.


Abnormal placental membrane morphology

description: Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix.


Gustatory agnosia

description: People cannot identify tastes, even though they can experience them.


Type IV truncus arteriosus

description: Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present.


name: Enlarged epiphysis of the 1st metatarsal


Dependency on parenteral nutrition

description: Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition.


Elevated brain creatine level by MRS

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


Arcuate vein intimal mucoid edema

description: Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining.


Pulmonary vasculitis

description: Cellular inflammation, vessel destruction, and tissue necrosis of the blood vessels of the lung.


Epispadias

description: Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias.


Abnormal tarsal bone mineral density

description: This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone.


Hypernatriuria

description: An increased concentration of sodium(1+) in the urine.


congenital laryngeal cyst

description: Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.


Hyperplasia of the endometrium

description: A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia).


Nut food product allergy

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


Nevus flammeus nuchae

description: Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns.


Chronic cough

description: A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children.


Abnormal posturing

description: Involuntary flexion or extension of the arms and legs.


Very preterm birth

description: Birth before 32 completed weeks of gestation (28 up to but not including 32 weeks).


name: Dysfunction of lateral corticospinal tracts


Phenotypic abnormality

description: A phenotypic abnormality.


Absent axillary hair

description: Absence of axillary hair.


Abnormal renal pelvis morphology

description: An abnormality of the renal pelvis.


Abnormal odontoid tissue morphology

description: An abnormality of an odontoid tissue.


Feeding difficulties

description: Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.


Rest limb pain

description: Rest pain is a continuous unrelenting pain due to ischemia of the lower leg, beginning with or being aggravated by elevation and being relieved by sitting with legs in a dependent position or by standing.


Unilocular ovarian cyst

description: An ovarian cyst without septa and a solid component.


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

description: Partial or complete duplication of the distal phalanx of little toe.


Anomalous pulmonary venous return

description: A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.


name: Abnormal CSF branched chain amino acid concentration

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


Chordee

description: Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.


splenic infarction

description: Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)


Abnormal atrioventricular connection

description: An abnormality of the circulatory connection between atria and ventricles.


Lactescent serum

description: Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level.


Pruritus vulvae

description: A sensation of itching in the vulvar region.


Decreased level of D-mannose in urine

description: A decrease in the level of D-mannose in the urine.


hereditary antithrombin deficiency

description: A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).


Salt craving

description: Hypersalivation, also known as salt craving, refers to an excessive desire to consume salt (sodium chloride) or salty foods.


name: Abnormal peripheral nervous system physiology

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


Light-chain paraproteinemia

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


name: Generalized convulsive status epilepticus

description: A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.


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


AV nodal tachycardia

description: A type of supraventricular tachycardia that originates in the atrioventricular node.


name: Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis

description: A double outlet right ventricle with a subaortic ventritricular 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 not 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.


name: Absent pigmentation of the ventral chest

description: Lack of skin pigmentation (coloring) of the anterior chest.


Congenital megaureter

description: A developmental disturbance with extreme ureteral dilatation.


Abnormal seventh cranial physiology

description: Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.


Pulmonary necrosis

description: Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components.


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

description: Partial or complete duplication of the distal phalanx of second toe.


hypoaldosteronism disease

description: Abnormally low levels of aldosterone in the blood.


Elevated terminal:vellus ratio

description: An increased proportion of terminal hairs compared to vellus hairs.


Retrocollis

description: A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.


name: Abnormality of reproductive system physiology

description: An abnormal functionality of the genital system.


Low-grade fever

description: Mild fever that does not exceed 38.5 degrees centigrade.


name: Abnormal peripheral nervous system ganglion morphology

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


Nodular pattern on pulmonary HRCT

description: A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.


Hypoplasia of the small intestine

description: Underdevelopment of the small intestine.


Delusion of control

description: A false belief that another person, group of people, or external force controls one's general thoughts, feelings, impulses, or behaviors.


cutaneous leiomyosarcoma

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


Exencephaly

description: A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium.


Impaired distal vibration sensation

description: A decrease in the ability to perceive vibration in the distal portions of the limbs.


Aortic elastic fiber thinning

description: A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers.


EEG with spike-wave complexes (<2.5 Hz)

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


Left ventricular hypertrophy

description: Enlargement or increased size of the heart left ventricle.


name: rosette-forming glioneuronal tumor of fourth ventricule

description: A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal.


Wide cavum septum pellucidum

description: Width of the cavum septum pellucidum above the upper limit of normal, which is defined as a separation of greater than one cm of the leaves of the cavum septum pellucidum.


Tongue fasciculations

description: Fasciculations or fibrillation affecting the tongue muscle.


Posterolateral diaphragmatic hernia

description: A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity.


Motor deterioration

description: Loss of previously present motor (i.e., movement) abilities.


name: Aplasia/Hypoplasia of the middle phalanges of the toes


Decreased serum estradiol

description: A reduction below normal concentration of estradiol in the circulation.


Excessive eye contact

description: Tendency to maintain sustained eye contact for an inappropriately long period of time.


Hyposthenuria

description: An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.


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

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


Focal emotional seizure

description: Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer.


Broad 4th toe

description: A broad appearance of the fourth toe.


name: Low-frequency sensorineural hearing impairment

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


name: Decreased immunoglobulin level in body fluid

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


Craniofacial osteosclerosis

description: Abnormally increased density of craniofacial bone tissue.


urinary bladder neoplasm

description: A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003


Abnormality of mesenteric lymph nodes

description: A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery.


name: Status epilepticus without prominent motor symptoms

description: There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma.


Cyanosis

description: Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.


hymen, imperforate

description: A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina.


Hawkinsinuria

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


Lhermitte's sign

description: An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk.


name: Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis

description: A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying 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.


name: Abnormal morphology of right ventricular trabeculae

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


Bile duct polyp

description: An elevated growth from the the mucosa of the bile duct.


Focal T2 hypointense thalamic lesion

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


Increased female libido

description: Elevated sexual desire in female


spinal muscular atrophy

description: Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person.


Prominent subcalcaneal fat pad

description: Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062.


Hypnagogic hallucination

description: Hypnagogic hallucinations are brief hallucinations that occur as you are falling asleep.


Abnormal renal corpuscle morphology

description: Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule.


name: Discrete 2 to 5-mm hyper- and hypopigmented macules


Polymorphic vesicular eruption

description: A type of vesicular eruption in which the vesicles are at different stages.


female reproductive system neoplasm

description: A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma.


Hippocampal atrophy

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


name: Triangular epiphysis of the 1st metatarsal


EEG with changes in voltage

description: EEG with abnormal amplitude.


Deja vu aura

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


Labile Hypertension

description: Frequent fluctuations of blood pressure between normal and high levels, changing more dramatically than normal.


Cryptococcal meningitis

description: Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2)


Hyperactive bowel sounds

description: Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines.


Impairment in personality functioning

description: A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.


Elevated urine keto acid level

description: Increased amount of a keta acid in the urine.


adenomyosis

description: The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia.


cor triatriatum dexter

description: A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue.


Severe generalized osteoporosis

description: Severe degree of osteoporosis.


Aplasia of the olfactory bulb

description: Lack of formation (congenital absence) of the olfactory bulb.


neurofibroma of the heart

description: A rare neurofibroma that affects the heart.


Abnormal pyramidal sign

description: Functional neurological abnormalities related to dysfunction of the pyramidal tract.


pituitary dwarfism

description: Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone.


name: Arcuate vein intima/media crystal accumulation

description: Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney.


Abnormal quality of facial expression

description: Spontaneous production of communicative facial expressions that have poor quality or are exaggerated or muted.


Lacticaciduria

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


High pulse pressure

description: Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).


Hepatic cysts

description: A cystic lesion located in the liver.


Abnormal pulmonary artery physiology

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


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


Moderate conductive hearing impairment

description: The presence of a moderate form of conductive hearing impairment.


Decreased CSF arginine concentration

description: Abnormally decreased levels of arginine in cerebrospinal fluid.


name: Focal impaired awareness emotional seizure with anger

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


name: Increased circulating farnesol concentration

description: An elevated level of farnesol in the blood circulation.


Greater auricular nerve thickening

description: Increase in thickness of the great auricular nerve, a cutaneous nerve of the head. It originates from the cervical plexus, with branches of spinal nerves C2 and C3. Thickening may lead to the nerve being palpable or even visible in this region.


Coronary cameral fistula

description: An abnormal communication between coronary artery and a cardiac chamber.


Abnormal cardiac index

description: Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area.


Agyria

description: A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm.


Myofiber disarray

description: A nonparallel arrangement of cardiac myocytes.


Gallbladder enlargement

description: Abnormal increased in the thickness of the size of the gallbladder.


facial cleft

description: A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences.


Abnormal intervertebral disk morphology

description: Any structural abnormality of the intervertebral disk.


name: Neonatal seizure with unilateral automatism

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


Ovarian mass

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


name: Elevated circulating short-chain acylcarnitine concentration

description: Concentration of short-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. Short chain acylcarnitines have between two and five carbon atoms in the acyl-chain (C2-C5),


Fusion of the left and right thalami

description: A developmental defect characterized by fusion of the left and right halves of the thalamus.


Fractured facial bone

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


name: Abnormality of the somatic nervous system

description: Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements.


Abnormal ear morphology

description: Any structural anomaly of the ear.


Increased HDL3a concentration

description: An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.


Abnormal dura mater morphology

description: An abnormality of the Dura mater.


Periapical tooth abscess

description: A tooth abscess that occurs at the tip of the root (apex) of a tooth.


Superficial thrombophlebitis

description: Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).


Gerbode ventricular septal defect

description: A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve.


name: Abnormal circulating free fatty acid concentration

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


Usual-type tubular atrophy

description: A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis.


Agenesis of the small intestine

description: Failure to develop of the small intestine.


Progressive spasticity

description: Spasticity that increases in degree with time.


Bilateral cryptorchidism

description: Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.


Decreased CSF glycine concentration

description: Abnormally decreased levels of glycine in cerebrospinal fluid.


Glomerular synechial adhesion

description: An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis.


name: Abnormal CSF serine family amino acid concentration

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


Aplasia/hypoplasia of the uterus

description: Absence or developmental hypoplasia of the uterus.


name: Abnormality of peripheral somatosensory evoked potentials


name: Focal aware cognitive seizure with dyscalculia/acalculia

description: A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure.


Abnormality of lingual tonsil

description: An abnormality of a lingual tonsil.


Subdural hemorrhage

description: Hemorrhage occurring between the dura mater and the arachnoid mater.


Focal impaired awareness atonic seizure

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


name: Grade III preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles.