Focal vocal automatism seizure

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


Abnormal joint morphology

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

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


Abnormal cerebral ventricle morphology

Any structural abnormality of the cerebral ventricles.


Glomerular capillary wall duplication without cellular interposition

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


Long fingers

The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.


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

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


Increased anti-plant product IgE antibody level

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


Lower cranial nerve dysfunction

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


Transient hyperphenylalaninemia

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


Enlarged epiphysis of the distal phalanx of the 4th finger

Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.


Increased circulating insulin-like growth factor 1 concentration

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


Elevated circulating o-phosphoserine concentration

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


Increased urinary 11-deoxycortisol level

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


agammaglobulinemia

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes.


Absent left sided atrioventricular connection

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


Fractured metatarsal bone of digit 5

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


Interrupted pituitary stalk

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


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

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


Contracture of the proximal interphalangeal joint of the 3rd toe

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


Abnormal vena cava morphology

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


Absent neutrophil specific granules

Lack of specific granules in neutrophils.


Erythrocyte cylindruria

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


Increased circulating copper concentration

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


Kinesiophobia

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


cervical vertebrae, agenesis of

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


Autonomic erectile dysfunction

Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system.


Fossa navicularis urethral stricture

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


Decreased circulating purine concentration

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


Abnormal antitragus morphology

An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch.


2-ethylhydracylic aciduria

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


Intermittent lactic acidemia

An intermittent (discontinuous) form of lactic acidemia.


Abnormal auditory evoked potentials

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


Aplasia of the ovary

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


Grade V vesicoureteral reflux

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


Abnormal pulmonary vein physiology

An abnormality of the function of the pulmonary veins.


Club-shaped distal femur

An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.


hypertrichosis cubiti-short stature syndrome

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


Autoamputation of foot

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


Abnormal localization of kidney

An abnormal site of the kidney.


Abnormality of von Willebrand factor

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


Abnormality of the protein C anticoagulant pathway

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


Geophagia

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


Intralobular septal thickening

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


EEG with periodic complexes

Periodically occurring generalized periodic complexes.


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


Apneic episodes in infancy

Recurrent episodes of apnea occurring during infancy.


Abnormality of hepatobiliary system physiology

A functional anomaly of the hepatobiliary system


Irregular epiphysis of the proximal phalanx of the 2nd toe


Serpentine fibula

Elongated curved (S-shaped) fibulae.


Left aortic arch with retroesophageal right subclavian artery

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


Colonic arteriovenous malformation

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


Abnormal esterified to free carnitine ratio

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


Decreased proportion of class-switched memory B cells

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


Small epiphysis of the distal phalanx of the hallux


Recurrent, involuntary, and intrusive distressing memories

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


Positive pathergy test

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


Duplication of proximal phalanx of toe

Partial/complete duplication of a proximal phalanx of toe.


Increased level of hexanoylglycine in urine

Elevated concentration of hexanoylglycine in the urine.


Fibrofatty replacement of right ventricular myocardium

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


Metatarsal diaphyseal endosteal sclerosis

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


CSF anti-NMDA receptor antibody positivity

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


Abnormality of uvular muscle

An abnormality of the uvular muscle


Gluten allergy

Hypersensitivity in form of an adverse immune reaction against gluten.


Focal impaired awareness emotional seizure with fear/anxiety/panic

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


Aplasia/Hypoplasia involving the sinuses

Absence or underdevelopment of a cranial sinus or sinuses.


Peg-like central prominence of distal tibial metaphyses


Focal impaired awareness sensory seizure with cephalic sensation

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


Reduced hair sulfur content

Abnormally low amount of sulfur in hair.


Abnormal circulating beta globulin level

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


Elevated urine 2-methylcitric acid level

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


Lip discoloration

Lightening or darkening of the lips from their usual coloring.


Plasmacytosis

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


Polyalveolar lobe

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


Complete duplication of the proximal phalanx of the 4th finger

Complete duplication of the fourth proximal phalanx of hand.


Decreased circulating total IgM

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


Macronodular adrenal hyperplasia

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


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

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


Calf muscle hypertrophy

Muscle hypertrophy affecting the calf muscles.


Repeated focal motor seizures

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


pyropoikilocytosis, hereditary

An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.


Neonatal insulin-dependent diabetes mellitus


Pachygyria

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


Elevated urine erythritol level

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


Intercostal retractions

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


Fetal intracranial hemorrhage

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


Dilated vas deferens

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


Abnormal interest

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


Proximal amyotrophy

Amyotrophy (muscular atrophy) affecting the proximal musculature.


Abnormality of hair texture

An abnormality of the texture of the hair.


Impaired ristocetin-induced platelet aggregation

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


Hypothalamic atrophy

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


Duplication of phalanx of 2nd finger

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


Renal tubular epithelial cell sloughing

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


Abnormal proportion of CD4-positive T cells

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


Patchy sclerosis of the proximal phalanx of the hallux


Bracket epiphysis of the middle phalanx of the 5th toe


Esophageal furrows

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


Talipes calcaneovarus

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


Increased carotid artery intimal medial thickness

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


Fluctuating splenomegaly

Intermittently increased size of the spleen.


Abnormality of the epiphysis of the proximal phalanx of the 3rd finger


Increased urinary 11-deoxytetrahydrocorticosterone level

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


Extension of hair growth on temples to lateral eyebrow

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


Gastrointestinal telangiectasia

Telangiectasia affecting the gastrointestinal tract.


Focal impaired awareness pedal automatism seizure

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


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

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


EEG with temporal sharp waves

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


Reduced object sharing

An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects with parents or peers during object play. Object sharing typically develops within the first two years of life.


Tonofilament clumping

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


Enlarged metaphyses

Abnormal increase in size of one or more metaphyses.


myeloproliferative disorder, chronic, with eosinophilia


Arcuate vein medial hypertrophy

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


Abnormality of the musculature of the thorax

A disease or lesion affecting the muscles of the thorax.


ovarian thecoma

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


Reduced proportion of mucosal-associated invariant T cells

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


Orthokeratotic hyperkeratosis

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


Ureteral mass

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


Abnormal coronary sinus morphology

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


Abnormal morphology of the vestibule of the inner ear

A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.


Posterior atrophy of corpus callosum

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


Abnormal atrial septum morphology

An abnormality of the interatrial septum.


Duplication of distal phalanx of toe

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


Decreased CSF epinephrine concentration

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


Agenesis of primary mandibular central incisor

Agenesis of lower primary incisor.


polyp of vocal cord

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


Increased CSF phenylalanine concentration

Abnormally increased levels of phenylalanine in cerebrospinal fluid.


Short fetal humerus length

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


Leptomeningeal enhancement

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


Abdominal guarding

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


Fetal intraventricular hemorrhage with periventricular hemorrhage

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


Complete duplication of the phalanges of the 3rd finger

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


Liver angiomyolipoma

A benign liver neoplasm composed of fat, vascular, and smooth muscle elements.


Focal impaired awareness cognitive seizure with memory impairment

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


myelodysplastic syndrome with ring sideroblasts

Acquired idiopathic sideroblastic anemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterized by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukemia. Acquired idiopathic sideroblastic anemia is now more commonly referred to as refractory anemia with ringed sideroblasts or the acronym RARS.


Abnormal circulating neopterin concentration

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


T2 hypointense thalamus

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


thymus neoplasm

A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma.


Pseudoepiphysis of the middle phalanx of the 2nd finger

A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


Lymph-node hemophagocytosis

Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages in a lymph node.


Abnormal erythrocyte physiology

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


Cuboid-shaped thoracolumbar vertebral bodies


triphalangeal thumb, Nonopposable

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


Brisk reflexes

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


Increased level of hippuric acid in urine

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


Fetal hydrothorax

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


Focal-onset seizure evolving into bilateral convulsive status epilepticus

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


Paradoxical respiration

Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing.


Hypomethioninemia

A decreased concentration of methionine in the blood.


Abnormal hypnagogia

Abnormal transition of consciousness from wakefulness to sleep.


Sclerotic scapulae

Increased density of the bony tissue of the scapula.


Anti-asparaginyl-tRNA synthetase antibody positivity

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


Testicular fibrosis

Formation of excess connective tissue in the testicle.


Elevated circulating N-carbamyl-beta-alanine concentration

An increased concentrationof N-carbamyl-beta-alanine in the blood circulation.


distal renal tubular acidosis

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


Abnormal semicircular canal morphology

An abnormality of the morphology of the semicircular canal.


Bowman-space proteinaceous debris

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


Digital pitting scar

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


Negative affectivity

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


chondroma

A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes.


Abnormal primary molar morphology

An abnormality of morphology of primary molar.


Osteosclerosis of the ulna

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


immunodeficiency disease

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


tinea profunda

A dermatophytosis that involves the deep dermal layers.


Impaired self monitoring

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


Colonic fibrinopurulent exudate

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


Disseminated histoplasmosis

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


Cystic pattern on pulmonary HRCT

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


Increased hepatocellular lipid droplets

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


Decreased size of nerve terminals

A reduction in the size of nerve terminals.


Anti-topoisomerase I antibody positivity

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


Gaze avoidance

A deliberate avoidance of eye contact.


Abnormal eating behavior

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


Ductus venosus agenesis

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


Abnormal testis morphology

An anomaly of the testicle (the male gonad).


Increased urinary phosphoserine level

An increased level of phosphoserine in the urine.


Renal chloride wasting

High urine chloride in the presence of hypochloridemia.


arachnoid cyst

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


Dorsal hirsutism

Abnormally increased hair growth in the lskin of the back.


Abnormal pitch

Abnormally high or low-pitched vocalization or speech.


Patchy sclerosis of the proximal phalanx of the 5th toe

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


Partial duplication of the distal phalanx of the 4th toe

Partial duplication of the distal phalanx of fourth toe.


Abnormality of the middle phalanx of the 3rd finger


congenital absence of septum pellucidum

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


Abnormality of levator veli palatini muscle

An abnormality of a levator veli palatini.


focal segmental glomerulosclerosis 1

Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene.


Posterior fossa cyst at the fourth ventricle


Elevated circulating apolipoprotein A-IV concentration

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


Spermatogenesis maturation arrest

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


Mesangial matrix expansion

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


Spinal stenosis with reduced interpedicular distance

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


Abnormality of muscle size

Abnormalities of the overall muscle bulk based on clinical observation.


Congenital malformation of the great arteries

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


Comedonal acne

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


Elevated circulating growth hormone-releasing hormone concentration

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


prolapse of urethra

Prolapse of the urethral mucosa from the exterior urethral opening.


Sagittal craniosynostosis

A kind of craniosynostosis affecting the sagittal suture.


nervous system cancer

A primary or metastatic malignant neoplasm involving the nervous system.


Anomalous insertion of papillary muscle directly into anterior mitral leaflet

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


Acephalic spermatozoa

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


Hypercapnia in cord blood

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


Gastrointestinal angiodysplasia

Dysplasia affecting the vasculature of the gastrointestinal tract.


Triangular epiphyses of the 5th finger

A triangular appearance of the epiphyses of the 5th finger of the hand.


Abnormal upper limb metaphysis morphology

An anomaly of one or more metaphyses of the arms.


tooth ankylosis

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


Buttock pain

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


Abnormal umbilicus morphology

An abnormality of the structure or appearance of the umbilicus.


Irregular epiphysis of the distal phalanx of the 4th finger

Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger.


Absence of stomach bubble on fetal sonography

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


Anti-asialoglycoprotein receptor antibody positivity

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


Bracket epiphysis of the proximal phalanx of the 5th toe


Persistent left superior vena cava

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


Tongue neurofibroma

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


Hypohistidinemia

A decreased amount of histidine in the blood.


Self-neglect

Neglecting one's own needs and well-being.


Bulbous tooth

A tooth crown with a marked cervical area constriction.


Nodular-random pattern on pulmonary HRCT

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


Double inlet to single ventricle with common atrioventricular orifice


Eosinophilic microabscess formation in the esophagus

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


Lower limb amyotrophy

Muscular atrophy affecting the lower limb.


Abnormality of the gingiva

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


Abnormal response to glucagon stimulation test

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


Recurrent joint dislocation

Dislocation of a given joint repeated times.


Curved proximal phalanx of the 2nd finger

Curved appearance of the proximal phalanx of the 2nd finger.


Abnormal postural reflex

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


craniofacial dystonia

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


Hyperlysinuria

An increased concentration of lysine in the urine.


acromial dimples

A subtype of skin dimples occurring in the shoulder region.


Abnormal morphology of erythroid progenitor cell

Abnormal form of the progenitor cells committed to the erythroid lineage.


Abnormal aortic valve morphology

Any abnormality of the aortic valve.


pulmonary subvalvular stenosis

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


Decreased heart rate variability

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


Platelet anisocytosis

Abnormally increased variability in the size of platelets.


Sclerosis of hand bone

Osteosclerosis affecting one or more bones of the hand.


Decreased level of erythritol in urine

A decrease in the level of erythritol in the urine.


Abnormal CSF serine concentration

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


Abnormality of the epiphysis of the distal phalanx of the 3rd finger


Pseudoepiphyses of the 5th finger

A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


Tubular microcystic change

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


Cone-shaped epiphysis of the distal phalanx of the 3rd finger

A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.


Bracket epiphysis of the middle phalanx of the 4th toe


Contracture of the metatarsophalangeal joint of the 3rd toe

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


Tapered tooth

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


Aplasia/Hypoplasia of the 3rd finger

A small/hypoplastic or absent/aplastic 3rd (middle) finger.


Type VI atherosclerotic lesion

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


Abnormal circulating threonine concentration

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


Increased extraneuronal autofluorescent lipopigment

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


Night gasping

Waking up at night gasping for breath.


Freezing of gait

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


Decreased CSF glutamate concentration

Abnormally decreased levels of glutamic acid in cerebrospinal fluid.


Generalized edema

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


EEG with generalized epileptiform discharges

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


Long uvula

Increased length of the uvula.


Elevated circulating medium-chain acylcarnitine concentration

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


Limitation of movement at ankles

An abnormal limitation of the mobility of the ankle joint.


Absence or underdevelopment of the nasopharyngeal adenoids.


Decreased platelet glycoprotein IIb-IIIa

Decreased cell membrane concentration of glycoprotein IIb-IIIa.


Abnormal arcuate artery morphology

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


Vestibular hypofunction

A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance


Thin ear helix

Decreased thickness of the helix of the ear.


Duplication of the proximal phalanx of the 5th finger

Partial or complete duplication of the fifth proximal phalanx of hand.


Dysplastic distal thumb phalanges with a central hole


Focal aware sensory seizure with olfactory features

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


Renal medullary hyperechogenicity

Increased echogenecity of the medullary region of the kidney.


Acute demyelinating polyneuropathy

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


Abnormal glomerular visceral epithelial cell morphology

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


Increased CSF threonine concentration

Abnormally increased levels of threonine in cerebrospinal fluid.


Fractured shoulder bone

A partial or complete breakage of a shoulder bone.


Recurrent mycobacterium avium complex infections

Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection.


Abnormal circulating nucleobase concentration

An abnormality of a nucleobase metabolic process.


Calvarial skull defect

A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.


Periosteal new bone of humeral diaphysis


Abnormal right atrium morphology

Any structural abnormality of the right atrium.


cerebral palsy

A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain.


Singsong Intonation

A speech pattern characterized by abnormal fluctuations in the pitch of the voice.


Abnormal sex determination

Anomaly of primary or secondary sexual development or characteristics.


Pseudoepiphysis of the proximal phalanx of the 3rd toe

A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the third toe.


Enlargement of the distal femoral epiphysis

An abnormal enlargement of the distal epiphysis of the femur.


split hand-foot malformation

Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.


Decreased HDL3b concentration

A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.


Short distal phalanx of the 2nd toe

Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia.


Loss of Purkinje cells in the cerebellar vermis


Abnormal cerebral artery morphology

Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.


Heavy-chain paraproteinemia

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


Abnormal circulating branched chain amino acid concentration

Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.


Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically.


Abnormal elasticity of skin

Any abnormal increase or reduction in skin elasticity.


Reduced epidermal keratin 10 protein expression

Amount of keratin 10 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


Diffuse alveolar hemorrhage

A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.


Reduced epidermal keratin 5 protein expression

Amount of keratin 5 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


Fractured head of femur

A partial or complete breakage of the head of femur.


megalodactyly

A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances.


Cranial hyperostosis

Excessive growth of the bones of cranium, i.e., of the skull.


Dialeptic seizure

A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event.


Abnormality of digestive system physiology

A functional anomaly of the digestive system.


Elevated circulating 3-hydroxypalmitoleylcarnitine concentration

Concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation above the upper limit of normal.


hereditary elliptocytosis

Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.


Delayed Echolalia

Repetition of borrowed words or phrases outside of the context in which they were originally heard. E.g., scripting from TV shows or movies.


Abnormality of intracranial pressure

A deviation from the norm of the intracranial pressure.


Anti-Gephyrin antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin.


Postnatal macrocephaly

The postnatal development of an abnormally large skull (macrocephaly).


Fractured epiphysis of second metacarpal bone

A partial or complete breakage of the epiphysis of second metacarpal bone.


Arcuate artery endoarterial lymphocyte hypercellularity

A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery.


Positive CMV urine nucleic acid test

Detection of Cytomegalovirus (CMV) nucleic acid in the urine by a method such as polymerase chain reaction.


Interlobular vein intima/media coagulative necrosis

A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.


Femoral aplasia

Failure of the femur to develop.


Abnormal lower-limb motor evoked potentials

An anomaly identified by motor evoked potentials (MEPs) in the leg.


Abnormal circulating lysine concentration

Any deviation from the normal concentration of lysine in the blood circulation.


Generalized non-motor (absence) seizure

A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.


Irregular epiphysis of the proximal phalanx of the 4th finger

Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger.


Congenital pyloric atresia

Congenital atresia of the pylorus.


Chronic decreased circulating IgG1

A lasting decrease of immunoglobulin G1 (IgG1) in the blood.


Venom-induced anaphylaxis

A form of anaphylaxis that is triggered by exposure to venom.


Glomerular endotheliosis

Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen.


Abnormality of the musculature of the thigh


Subepidermal blistering

A type of blistering in which the lesions are located beneath the epidermis.


pituicytoma

An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido.


Fractured distal phalanx of manual digit 4

A partial or complete breakage of the distal phalanx of manual digit 4.


Abnormal nipple morphology

An abnormality of the nipple.


Thick spermatozoon midpiece insertion

Increased width of the midpiece of the spermatozoon. The midpiece is the structure that is located between the head and the flagella (tail) of the spermatozoon. This term applies if the width of the midpiece increases progressively from the flagella to the head and if the proportion of individual spermatozoa with this anomaly is above the upper limit of normal.


Increased circulating beta-C-terminal telopeptide concentration

A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.


Complete duplication of the phalanges of the 5th finger

A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


Absent epiphysis of the proximal phalanx of the 2nd finger


Abnormality of the face

An abnormality of the face.


Anti-GD1a antibody positivity

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


Bullet-shaped distal phalanx of the 4th finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected.


Hydrocele testis

Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.


Abnormal cortical radial artery intima/media morphology

Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney.


Aplasia/Hypoplasia of the pyramidal tract


Luse bodies

Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands.


Pseudo-chilblain

Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet.


Barking cough

A cough with a characteristic sound that has been compared to a seal's bark.


Increased circulating IgA level

An abnormally increased level of immunoglobulin A in blood.


Glomerular fibrinoid necrosis

Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis.


Dilated fourth ventricle

An abnormal dilatation of the fourth cerebral ventricle.


Abnormal phytanic acid:pristanic acid ratio

Any deviation from the normal ratio of blood phytanic acid concentration to pristanic acid concentration.


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha.


U wave inversion

Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves.


preaxial hallucal polydactyly

Duplication of all or part of the first ray.


Translamellar aortic medial fibrosis

A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units.


Hemosiderin-laden macrophages in bronchoalveolar fluid

Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP).


Disproportionate short-trunk short stature

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.


Pelizaeus-Merzbacher disease

An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.


Glomerular C3 deposition

The presence of complement 3 deposits in the glomerulus.


Absent pubertal growth spurt

The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur.


Increased serine family amino acid in urine

An increased level of a serine family amino acid in the urine.


Abnormal circulating IgE level

An abnormal deviation from normal levels of IgE immunoglobulin in blood.


Fetal bowel dilatation

Fetal bowel dilatation is characterized by fluid-filled intestinal loops which measure at least fifteen millimeters long or seven millimeters in diameter. Ultrasonographic image of dilated fetal bowel is a sign of intestinal mechanical or functional obstruction and its prevalence will depend on the underlying condition: bowel atresia or stenosis, malrotation with volvulus, meconium ileus, total colonic aganglionosis, and meconium plug syndrome. The etiology of fetal bowel dilatation is a difficult prenatal diagnosis since ultrasound has limited accuracy for bowel evaluation.


Pallor of dorsal columns of the spinal cord

An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination.


Cutaneous finger syndactyly

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


Decreased male libido

Reduced desire for sexual activity on the part of a male.


Type I atherosclerotic lesion

Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells).


Abnormal pancreatic acinus morphology

Structural anomal of pancreatic acinus.


Decreased circulating beta-2-microglobulin level

Reduced concentration of beta-2-microglobulin in the blood.


Abnormal alveolar volume

Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath manouver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas.


Short phalanx of the 2nd toe

Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia.


Effort-induced polymorphic ventricular tachycardia

Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.


Pancreatic dysplasia

The presence of developmental dysplasia of the pancreas.


Tufted hairs

The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice.


Abnormal circulating homocysteine concentration

An abnormality of a homocysteine metabolic process.


perinephritis

Inflammation of the connective and adipose tissues surrounding the kidney.


Saccular descending thoracic aortic aneurysm

An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall


Renal tubular viral cytopathic changes

Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells.


Elevated CSF argininosuccinic acid concentration

Concentration of argininosuccinic acid in the cerebrospinal fluid (CSF) above the upper limit of normal.


Abnormal breast physiology

Any anomaly of the function of the breast.


Increased glutamine family amino acid level in urine

An elevated level of an glutamine family amino acid in the urine.


Limited elbow extension

Limited ability to straighten the arm at the elbow joint.


Chronic decreased circulating total IgG

A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.


Metacarpophalangeal thumb joint contracture

Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis.


Metaphyseal dappling

The presence of spots or rounded patches of abnormally increased density of metaphyseal bone.


Abnormal posterior semicircular canal morphology


Inspiratory crackles

Crackles that are heard during the inspiratory phase.


Finger joint contracture

Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a finger joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.


Decreased CSF alanine concentration

Abnormally decreased levels of alanine in cerebrospinal fluid.


Cerebellar edema

Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.


Enlarged epiphysis of the proximal phalanx of the thumb

Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


pseudohypoaldosteronism

An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate.


Late chronotype

A tendency towards waking up very late in the morning and staying up late at night.


Thunderclap headache

Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days.


Tibial spur

A bony projection (spur, osteophyte) originating from the tibia.


Plant based food allergy

Hypersensitivity in form of an adverse immune reaction against plant based food allergens.


Urinary bladder mass

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


EEG with central sharp slow waves

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


Abnormal spatial orientation of the cardiac segments

Abnormality of the spatial relationship of the cardiac segments to other components of the heart.


Spinal cord xanthomatosis

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


Mucoid diarrhea

Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes.


Increased level of 3-hydroxy-3-methylglutaric acid in urine

The concentration of 3-hydroxy-3-methylglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Abnormality of mouth shape

An abnormality of the outline, configuration, or contour of the mouth.


Increased RIPA

Increased platelet agglutination in response to low-dose ristocetin


Decreased calvarial ossification

Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).


Stiff elbow

A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity.


Abnormal epididymis morphology

An abnormality of the epididymis.


Epsilon wave

An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave.


Impacted tooth

A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).


Enlarged epiphyses of the 3rd finger

Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms.


Abnormal morphology of the musculature of the neck

An abnormality of the neck musculature.


Erythematous plaque

A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.


Abnormal hyoglossus muscle morphology

An abnormality of a hyoglossus muscle.


4-5 toe syndactyly

Syndactyly with fusion of toes four and five.


Right-to-left shunt

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


Sex reversal

Development of the reproductive system is inconsistent with the chromosomal sex.


Cone-shaped epiphysis of the proximal phalanx of the 2nd toe


Abnormal ureter morphology

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


Aplasia/Hypoplasia of the uvula

Underdevelopment or absence of the uvula.


Diplomyelia

Duplication of the spinal cord.


Aplasia/Hypoplasia of the cervical spine

Aplasia or developmental hypoplasia of the cervical vertebral column.


Angiofibromas

Angiofibroma consist of many often dilated vessels.


Anti-Yo antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Yo.


Abnormality of the proximal tibial epiphysis

Any abnormality of the proximal epiphysis of the tibia.


Fetal pleural effusion

Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops.


Intraluminal thrombi within interlobular veins

Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney.


Intrapulmonary shunt

Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs.


Focal impaired awareness cognitive seizure with hallucination

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


diphallia

Two penile structures, separated from the tip to the base of the shaft.


Abnormal genital pigmentation

An abnormal pigmentation pattern of the external genitalia.


Abnormal urine citrate concentration

A deviation from normal of the concentration of citrate(3-) in the urine.


Fractured bone of jaw

A partial or complete breakage of the bone of jaw.


Aplasia/Hypoplasia of the 1st metacarpal

Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).


Osteolytic defect of the proximal toe phalanx

Dissolution or degeneration of bone tissue of the proximal toe phalanx.


1-3 finger syndactyly

Syndactyly with fusion of fingers one to three.


Recurrent cutaneous abscess formation

An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.


Skewfoot

A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus.


EEG with frontal epileptiform discharges

Focal epileptiform EEG discharges recorded in the frontal region.


Abnormality of the epiphyses of the hallux


Intratubular dihydroxyadenuria crystals

Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver.


Vesicular eruption

A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic.


scurvy

A condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur.


Deep philtrum

Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.


malignant endocrine neoplasm

A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma.


Fragmentation of the epiphyses of the 2nd finger

Fragmented appearance of the epiphyses of the 2nd finger.


Anti-Mi2 antibody positivity

The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen.


Fibrous crescent

A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference.


Abnormal play

An abnormality in a child's ability play.


Elbow contracture

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


Bloody bronchoalveolar lavage fluid

Return of lavage fluid characteristically has a bloody apperance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding.


Small epiphysis of the distal phalanx of the 3rd toe


Abnormality of the temporomandibular joint

An anomaly of the temporomandibular joint.


Abnormal ganglion morphology

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


Interlobular vein intima/media venulitis

Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural.


Abnormal platelet dense granule ATP/ADP ratio

Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets.


Abnormal neck morphology

Any structural anomaly of the neck region.


Dystrophic toenail

Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.


Focal cortical dysplasia type IIIa

A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis).


Mesoaxial hand polydactyly

The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.


Bilateral sensorineural hearing impairment

A bilateral form of sensorineural hearing impairment.


Increased serum pyruvate

An increased concentration of pyruvate in the blood.


Megacystis

Dilatation of the bladder postnatally.


Urinary bladder hamartoma

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


Increased femoral anteversion

An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward.


Sclerosis of toe phalanx

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


Brain fog

Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is "cloudy". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously.


Abnormal rituals

Insistence on rituals which are self-imposed on a person's environment including directing the behavior of those around them.


Vocal tremor

A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability.


situs inversus

A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning).


Facial expressions not directed to others


Extremely preterm birth

Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation).


Abnormality of the falx cerebri

An abnormality of the Falx cerebri.


Generalized hypotonia due to defect at the neuromuscular junction


Malaligned carpal bone

Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna).


epidermolytic ichthyosis

A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.


Gonadotropin deficiency

A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).


Abnormality of the axillary hair

Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty.


Fractures of the long bones

An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna).


Abnormal HDL subfraction concentration

An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm).


Irregular carpal bones

Carpal bones with irregular or fragmented margins.


Abnormal digestive system morphology

A structural anomaly of the digestive system.


Ivory epiphysis of the distal phalanx of the 5th toe


Time agnosia

The inability to perceive the passage of time is usually due to a disorder involving the temporal area of the brain.


Foot asymmetry

A difference in size or shape between the left and right foot.


Hypoplasia of the gallbladder

The presence of a hypoplastic gallbladder.


Decreased proportion of transitional B cells

A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.


Addictive methamphetamine use

Addiction to methamphetamine.


Elevated circulating myoglobin concentration

An increased blood concentration of myoglobin.


Reduction of neutrophil motility

An abnormal reduction of the cell motility of neutrophils.


Abnormality of the proximal humeral epiphysis

Any abnormality of the proximal epiphysis of the humerus.


Hyperdense pulmonary mass

A type of pulmonary mass with high attenuation.


Absent thoracic vertebra

A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine.


Elevated vascular endothelial growth factor level

Increased blood concentration of vascular endothelial growth factor (VEGF).


Short fifth metatarsal

Short (hypoplastic) fifth metatarsal bone.


Decreased circulating calcitonin concentration

Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation below the lower limit of normal.


Absent epiphyses of the middle phalanges of the hand


Separation insecurity

Fears of rejection by and/or separation from significant others are associated with fears of excessive dependency and complete loss of autonomy.


Micromelia

The presence of abnormally small extremities.


Advanced ossification of carpal bones

Ossification of carpal bones at an abnormally early age.


Uni- and bilateral multifocal epileptiform discharges

Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere.


patent urachus

Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.


Dental enamel pits

The presence of small depressions in the dental enamel.


Aplasia/Hypoplasia of the proximal phalanx of the hallux


Bracket epiphyses of the thumb

An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.


Elevated urine kynurenine level

An abnormally increased amount of kynurenine in the urine.


Interrupted aortic arch type C

Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries.


Astrocytosis

Proliferation of astrocytes in the area of a lesion of the central nervous system.


Abnormal gastrointestinal tract morphology

Abnormal structure of the gastrointestinal tract.


limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.


Hypoplasia of the Leydig cells

Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.


Truncus arteriosus

A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.


Reticular pattern on pulmonary HRCT

On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh.


Squawks

Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles.


Fractured distal epiphysis of distal phalanx of manual digit 1

A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1.


Pseudoepiphysis of the proximal phalanx of the 5th finger

A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


Partial duplication of the distal phalanges of the hand

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


Arteriovenous malformation of the maxilla

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


Decreased circulating IgG3 level

A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation.


Axillary epidermoid cyst

An epidermoid cyst in the armpit.


Abnormal metacarpal epiphysis morphology


Esophageal hemangioma

A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus.


Impaired distal proprioception

A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.


Hemiatrophy of lower limb

Unilateral atrophy (reduction in size) of a leg.


Glomerular endocapillary leukocyte hypercellularity

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


Morgagni diaphragmatic hernia

An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity.


Abnormal cardiac atrial physiology

An abnormality of the function of the cardiac atria.


Anti-H1 antibody positivity

The presence of autoantibodies in the blood circulation that react against histone H1.


Nummular eczema

A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet


Supraventricular tachycardia with a manifest accessory pathway


Long metacarpals

An abnormally increased length of the metacarpal bones.


High urinary gonadotropin level

An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism.


Carpometacarpal synostosis

Fusion involving carpal and metacarpal bones.


Pulmonary artery adventitial fibrosis

Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree.


Myoclonic seizure

A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.


primary cutis verticis gyrata

Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG).


Sclerosis of the middle phalanx of the 2nd finger


Bowel diverticulosis

The presence of multiple diverticula of the intestine.


Abnormal nasal bone morphology

An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone.


keloid

An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively.


Abnormal CSF metabolite concentration

Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.


Tibial metaphyseal irregularity

Irregularity of the normally smooth surface of a metaphysis of a tibia.


Necrolytic migratory erythema

Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution.


Abdominal wall defect

An incomplete closure of the abdominal wall.


T-shaped uterus

An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging.


fetal akinesia deformation sequence

Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes.


brachydactyly type A5

Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb.


Stippling of the epiphysis of the distal phalanx of the thumb

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb.


Facial expressions that do not match the context

Production of facial expressions that are misaligned with the social context.


Palatal tremor

Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral.


Absent end-diastolic umbilical artery flow

An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an absence of flow in the umbilical artery at the end of diastole.


Increased CSF taurine concentration

Increased concentration of taurine in the cerebrospinal fluid (CSF).


Paradoxical increased cortisol secretion on dexamethasone suppression test


Irregular epiphysis of the middle phalanx of the 5th finger

Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger.


Photosensitive tonic-clonic seizure

Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.


testicular teratoma

A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites.


Sclerosis of the middle phalanx of the 2nd toe


Pseudoepiphyses of the 3rd finger

A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


Plaque-like facial hemangioma

Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology.


Abnormal fetal nasal bone visualization

Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age.


Action myoclonus

A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli.


Abnormal HDL cholesterol concentration

Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood.


Increased density of left ventricular trabeculae

An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae).


Advanced pneumatization of the mastoid process

An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.


osteochondritis dissecans

A rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.


Acetabular spurs

The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum.


Focal autonomic seizure with pupillary dilation/constriction

A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature.


Vertebral artery aneurysm

Abnormal outpouching or sac-like dilatation in the wall of the vertebral artery .


Aplastic clavicle

Absence of the clavicles as a developmental defect.


Flattened metatarsal heads

Abnormally flat shape of the heads of the metatarsal bones.


Peroneal muscle atrophy

Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius).


Appendiceal mucinous neoplasm

An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles.


Abnormality of the epiphysis of the proximal phalanx of the 5th finger

Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.


Bicuspid aortic valve with right-left cusp fusion

A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure.


Multiple small bowel atresias

The presence of multiple areas of atresia affecting the small intestine.


Tako-tsubo cardiomyopathy

Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers.


Abnormal circulating prealbumin concentration

Any deviation from normal concentration of albumin in the blood circulation.


Abnormality of prenatal development or birth

An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.


complete atrioventricular canal

Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow.


Chiari malformation type 3

A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele.


Recurrent fungal infections

Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.


Self-biting

Habitual biting of one's own body.


Triangular tibia

A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally.


Selective mutism

Voluntary failure to use spoken language (at whatever level attained) in selective social contexts over a period of time.


Loose association

Speech characterized by weak (e.g. tangential/circumstantial) or absent (e.g. word salad) connections between ideas.


Genu varum

A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.


Organized thrombi within interlobular vein lumen

Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney.