Handgrip myotonia

description: Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.


Spermatocele

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

description: A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily.


Reduced imaginative play skills

description: Reduced or lack of pretending in play (does not assign abstract properties to objects, use invisible objects, or use objects in nonliteral ways other than their intended purpose in play).


name: Abnormal circulating histidine concentration

description: An abnormality of a histidine metabolic process.


Narrow uvula

description: Decreased width of the uvula.


Cigarette-paper scars

description: Thin (atrophic) and wide scars.


Patchy sclerosis of 4th toe phalanx

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


Short palm

description: Short palm.


Abnormal mandible morphology

description: Any abnormality of the mandible, the bone of the lower jaw.


name: Nodular subcortical heterotopia in peritrigonal regions

description: Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei.


Absent pigmentation of the abdomen

description: Lack of skin pigmentation (coloring) of the abdomen.


myelocystocele

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

description: Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst.


Preductal coarctation of the aorta

description: Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.


name: Focal sensory seizure with auditory features

description: A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation.


name: Elevated CSF myelin basic protein concentration

description: The concentration of myelin basic protein in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Anti-perilipin-1 antibody positivity

description: The presence of autoantibodies in the serum that react against perilipin-1 (PLIN1).


cerebral degeneration

description: A neurodegenerative disease that involves the telencephalon.


Dilated left subclavian artery

description: Abnormally increased caliber of the left subclavian artery.


Abnormal dental root morphology

description: An abnormality of the dental root.


Abnormal blood oxygen level

description: An abnormality of the partial pressure of oxygen in the arterial blood.


Laryngospasm

description: A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.


Abnormal fetal physiology

description: Any functional anomaly of the fetus.


Anterior beaking of lumbar vertebrae

description: Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.


name: Disproportionate prominence of the femoral medial condyle


Impaired neck-righting reflex

description: Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years.


name: Decreased cervical spine flexion due to contractures of posterior cervical muscles


neurohypophyseal diabetes insipidus

description: Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.


description: A granuloma located in the lung that is not associated with necrotic changes.


Advanced eruption of teeth

description: Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.


Dermatan sulfate excretion in urine

description: An increased concentration of dermatan sulfate in the urine.


brachial plexus neuropathy

description: A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand.


name: Disorganization of the anterior cerebellar vermis


Abnormal T cell count

description: A deviation from the normal count of T cells.


name: Compound muscle action potential amplitude facilitation

description: Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction.


Thistle tube shaped pulp

description: A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations.


cystic disease of lung

description: The presence of multiple lung cysts.


Increased CSF ribitol concentration

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


External carotid artery calcification

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


urocanic aciduria

description: Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.


Abnormal keratinocyte morphology

description: Any structural anomaly of the keratinocyte. The keratinocyte is the major cell type of the epidermis and is responsible for generating the protective barrier.


Increased vertebral height

description: Increased top to bottom height of vertebral bodies.


Purulent rhinitis

description: Chronic rhinitis accompanied by pus formation.


Benign genitourinary tract neoplasm

description: A non-malignant neoplasm of the genitourinary system.


Anti-ryanodine receptor antibody

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


Abnormal sexual behavior

description: An explicit or perceived action, demonstration, conduct, or language (verbal and written) of a sexual nature that goes against generally accepted norms, rules, and procedures. It is considered unacceptable within the context in which it occurs, or it may be both culturally acceptable and atypical/uncommon.


choroid plexus cyst

description: Solitary or multiple cysts within the fetal choroid plexus that frequently spontaneously resolve antenatally and do not usually have postnatal sequelae.


name: Supernumerary vertebral ossification centers

description: Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine.


Elevated urine D-lactate level

description: The amount of D-lactate in the urine, normalized for urine concentration, is above the upper limit of normal. L-lactate is a familiar molecule to the human body and is also produced in large amounts in human tissues, depending on metabolic conditions. In contrast, D-lactate is produced only in minute quantities in human tissues, and is therefore not detectable in the bloodstream under normal physiological conditions.


Focal orofacial automatism seizure

description: A type of focal automatism seizure characterized by orofacial automatisms at onset.


Frontal hirsutism

description: Excessive amount of hair growth on forehead.


Duodenal atrophy

description: Wasting or decrease in size of all or part of the duodenum.


name: Perimembranous ventricular septal defect

description: A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.


Retracted tympanic membrane

description: A condition in which part of the tympanic membrane is pull backed into the middle ear cavity (also called retraction pocket).


Hypoplasia of fetal nasal bone

description: On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637).


name: Supraventricular tachycardia with a manifest accessory pathway on the septum


Abnormal circulating renin

description: A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.


Ankle weakness

description: Reduced strength of the muscles that lift or otherwise move the foot at the ankle.


name: Elevated circulating histamine concentration

description: Increased concentration of histamine in the blood circulation.


Recurrent cutaneous fungal infections

description: Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.


Abnormal epiphysis morphology

description: An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.


Atrichia

description: The most dramatic and severe form of hair loss characterized by an absence of hair follicles.


Bleeding with minor or no trauma

description: Significant bleeding or hemorrhage without significant precipitating factor.


Abnormal cranial ganglion morphology

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


name: Cone-shaped epiphysis of the middle phalanx of the 2nd finger


name: Elevated circulating dihydrothymine concentration

description: An increased concentration of dihydrothymine in the blood circulation. Dihydrouracil is an intermediate in the catabolism of thymine.


Hemiplegia/hemiparesis

description: Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.


name: Focal cognitive seizure with hallucination

description: A focal cognitive seizure characterized by hallucination as the initial semiological manifestation.


Abnormal spleen morphology

description: Any anomaly of the structure of the spleen.


name: Elevated CSF dihydrobiopterin concentration

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


Abnormality of the urachus

description: Abnormality of the urachus.


Cafe-au-lait spot

description: Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.


EEG with 4-5/second background activity

description: EEG background activity at 4-5/second.


Fatigable weakness of neck muscles

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


name: Focal aware cognitive seizure with neglect

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


Enamel hypomineralization

description: A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect.


Irregular epiphyses of the 5th finger

description: Irregular radiographic opacity of the epiphyses of the 5th finger.


Hypoalaninemia

description: A decreased amount of alanine in the blood.


name: Streaks of hyperkeratosis along each finger onto the palm


Perifollicular fibrosis

description: Presence of excess fibrous connective tissue surrounding hair follicules.


Anti-reticulin antibody positivity

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


CNS hypermyelination

description: Increased amount of myelin in the central nervous system.


Macrotia

description: Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).


name: Abnormal circulating calcitonin concentration

description: Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation outside of normal limits.


Increased circulating palmitate level

description: An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation.


Asherman syndrome

description: Adhesions or scar tissue that form inside the cavity of the uterus.


Increased urinary orosomucoid

description: An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism.


name: Abnormality of tensor veli palatini muscle

description: An abnormality of the tensor veli palatini muscle


Fetal pericardial effusion

description: An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms.


Aortic annulus calcification

description: Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract.


Palmar warts

description: Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by human papillomavirus (HPV).


Corpus cavernosum hypoplasia

description: A developmental anomaly characterized by undergrowth of the corpus cavernosum.


ganglioneuroma

description: A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray.


Fractured hindlimb bone

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


Abnormal medulla oblongata morphology

description: An abnormality of the medulla oblongata, the lower half of the brainstem.


Hypoplastic trochlear nerve

description: Underdevelopment of the trochlear nerve, which is the fourth cranial nerve and one of the ocular motor nerves that controls eye movement.


name: Fusiform descending thoracic aortic aneurysm

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


Dermal translucency

description: An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.


name: Centrilobular ground-glass opacification on pulmonary HRCT

description: A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules.


name: Decreased glucose-6-phosphate dehydrogenase level in leukocytes

description: A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes.


name: Precocious puberty with Sertoli cell tumor


Focal perseverative automatism seizure

description: A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset.


Short N3 sleep

description: Disruptions in the third stage of NREM sleep.


Persistent viremia

description: Persistence of virus in the blood circulation longer than would be normal in an immunocompetent host.


Accessory scrotum

description: Additional scrotum, or part of a scrotum in an abnormal location.


Elevated urinary norepinephrine level

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


name: Focal aware sensory seizure with gustatory features

description: A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes.


name: Multicentric ossification of proximal humeral epiphyses


Breech presentation

description: A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.


Cardiomyocyte inclusion bodies

description: Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.


name: Aplasia of the middle phalanx of the 2nd toe


Abnormal magnesium concentration

description: An abnormality of magnesium ion homeostasis.


Abnormal circulating properdin level

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


Esophageal stricture

description: A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.


Abnormal endocrine morphology

description: Any anomaly of the structure of an organ ofthe endocrine system.


Abnormal cardiac ventricular function

description: An abnormality of the cardiac ventricular function.


Spinal myoclonus

description: Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia.


name: Reduced epidermal collagen VII protein expression


Levotransposition of the great arteries

description: A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery.


Complete duplication of hallux phalanx

description: Complete duplication of one or more phalanx of big toe.


name: Abnormality of the epiphysis of the proximal phalanx of the 3rd toe


Postnatal growth retardation

description: Slow or limited growth after birth.


name: Congenital symmetrical palmoplantar keratosis


name: Abnormal upper-limb motor evoked potentials

description: An anomaly identified by motor evoked potentials (MEPs) in the arm.


dentinogenesis imperfecta

description: Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development.


Cold-induced muscle cramps

description: Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.


complement deficiency

description: A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited.


Abnormal larynx physiology

description: Any anomaly of the function of the larynx.


name: Abnormality of the epiphysis of the 1st metacarpal

description: 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). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays.


familial multiple nevi flammei

description: A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color.


Recurrent candida infections

description: An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.


name: Increased circulating argininosuccinic acid

description: An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation.


Irregular proximal tibial epiphyses

description: Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular.


name: Subendothelial glomerular basement membrane electron dense deposits

description: Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect.


Musty odor

description: Pungent body odor.


name: Left superior vena cava draining directly to the left atrium

description: A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt.


Pink urine

description: An abnormal pink color of urine.


name: Abnormal anterior semicircular canal morphology


name: Elevated urinary succinylaminoimidazole carboxamide riboside level

description: Presence of succinylaminoimidazole carboxamide riboside (SAICAr). SAICAr is a toxic intermediate metabolite of purine synthesis.


Limited repertoire of facial expression

description: An abnormally limited range of facial expressions demonstrated by a lack of nuance of facial expression to match specific social situations or an inability to demonstrate a normal range of emotions with one's face.


Focal sexual automatism seizure

description: A type of focal automatism seizure characterized by involuntary sexual behavior at onset.


Mild receptive language delay

description: A mild delay in the acquisition of the ability to understand the speech of others.


Abnormal proportion of naive B cells

description: A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.


PR segment depression

description: A reduction in voltage of the PR segment below baseline.


Striatal T2 hyperintensity

description: Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging.


Bladder polyp

description: An abnormal growth that projects from the mucous membrane of the urinary bladder.


Recurrent streptococcal infections

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


name: Abnormality of the distal radial epiphysis

description: Any abnormality of the distal epiphysis of the radius.


fibroma

description: A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts.


Displaced tracheal bronchus

description: Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus.


name: Abnormality of the joint spaces of the elbow


Induced vaginal delivery

description: Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own.


Abnormality of the subungual region

description: A lesion located beneath a fingernail or toenail.


name: Proximal/middle symphalangism of 5th toe

description: Bony fusion of the middle and proximal phalanges of the 5th toe.


Temporomandibular joint adhesion

description: Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ.


Increased total iron binding capacity

description: An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.


name: Focal impaired awareness sensory seizure with visual features

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


Microcephaly

description: Head circumference below 2 standard deviations below the mean for age and gender.


Episodic pain

description: Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals.


Aortic medial fibrosis

description: An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units).


name: Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal

description: Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal.


Diaphyseal undertubulation

description: Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones.


name: Decreased CSF N-acetylaspartic acid concentration

description: Concentration of N-acetylaspartic acid in the cerebrospinal fluid below the lower limit of normal.


Abnormal renal arteriole morphology

description: Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents.


Long distal phalanx of finger

description: Increased length of the distal phalanx of finger.


Decreased circulating IgG4 level

description: A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation.


name: Symphalangism affecting the proximal phalanx of the 4th finger

description: Fusion of the proximal phalanx of the 4th finger with another bone.


Presacral teratoma

description: A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV).


name: Fragmentation of the epiphysis of the distal phalanx of the hallux


Senile plaques

description: Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.


Erythematous macule

description: A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation.


Focal aware automatism seizure

description: A type of focal automatism seizure during which awareness is fully retained throughout.


name: Spinocerebellar tract disease in lower limbs


Elevated urine L-alloisoleucine level

description: Abnormally increased level of L-alloisoleucine in the urine.


name: Abnormal distal ulnar epiphysis morphology

description: Any abnormality of the distal epiphysis of the ulna.


name: Irregular epiphysis of the distal phalanx of the hallux


name: Abnormality of the distal phalanx of the hallux


Hip adductor weakness

description: Reduced ability to bring the leg toward the midline of the body.


spastic hemiplegia

description: A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body.


Sensory hypersensitivity

description: A decreased tolerance to sensory stimuli that triggers emotional and/or physical distress.


Osteoporotic metatarsal

description: Decrease in mass and density of the metatarsal bones.


name: Increased proportion of effector memory CD8-positive, alpha-beta T cells

description: An increased proportion of effector memory CD8-positive, alpha-beta 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.


aortic valve disease 1

description: Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene.


Thumb extension contracture

description: Movement in the sagittal plane that increases the angle of the thumb joint (straightens the joint); motion involving posterior bending of the vertebral column or returning to the upright position from a flexed position.


Postprandial hyperlactemia

description: Abnormally increased level of blood lactate following a meal.


name: Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration

description: Concentration of 3-hydroxyhexadecanoylcarnitine in the blood circulation above the upper limit of normal.


name: Renal interstitial immunoglobulin deposits

description: Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining).


Prolonged QTc interval

description: A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.


Congenital ichthyosiform erythroderma

description: An ichthyosiform abnormality of the skin with congenital onset.


Type IV atherosclerotic lesion

description: In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion.


Alpha-aminobutyric aciduria

description: Increased amount of alpha-aminobutyric acid in the urine.


Thyroid lymphangiectasia

description: The presence of lymphangiectasis of the thyroid gland.


Hypoplastic nasopharyngeal adenoids

description: Underdevelopment of the nasopharyngeal adenoids.


name: Partial duplication of the phalanx of hand

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


name: Elevated circulating porphyrin concentration

description: Concentration of porphyrins or of a specific porphryin above the upper limit of normal. The most commonly tested circulating porphyrins are coproporphyrin, protoporphyrin, and uroporphyrin. Normally protoporphyrin is present in the highest concentration.


name: Symphalangism affecting the proximal phalanx of the 3rd toe


name: peripheral primitive neuroectodermal tumor

description: A small round cell tumor with neural differentiation arising from the soft tissues or bone.


name: Abnormality of extrinsic muscle of tongue


Abnormal tongue morphology

description: Any structural anomaly of the tongue.


name: Reduced circulating acylcarnitine concentration

description: An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.


name: Patchy sclerosis of the distal phalanx of the 2nd finger

description: Uneven (irregular) increase in bone density of the distal phalanx of the second finger.


Decreased urine urobilinogen

description: An abnormally reduced concentration of urobilinogen in the urine.


name: Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine

description: The relative concentration of deoxypyridinoline (Dpyr) to that of pyridinoline (Pyr) cross-links in urine is above the upper limit of normal.


Preauricular hair displacement

description: An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.


Ecchymosis

description: A purpuric lesion that is larger than 1 cm in diameter.


name: Anti-platelet derived growth factor receptor

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor.


Gastric intraepithelial lymphocytosis

description: The count of lymphocytes located in the epithelial layer of the gastric mucosa is above the upper limit of normal.


name: juvenile type testicular granulosa cell tumor

description: A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells.


Carpal bone aplasia

description: Congenital absence of a carpal bone.


Unilateral vestibular schwannoma

description: A unilateral vestibular schwannoma (acoustic neurinoma).


Splenic xanthomatosis

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


Interphalangeal thumb joint contracture

description: Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis.


Reduced sharing of interests

description: An absence or abnormally low frequency of engaging with others to share personal interests or topics. Interest sharing includes offers of information about oneself as a form of social interaction.


name: Abnormal urine guanidinoacetic acid level

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


Lip pit

description: A depression located on a lip.


name: Bracket epiphysis of the proximal phalanx of the 4th finger

description: An abnormality of the proximal phalanx of the fourth finger 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.


Micrographia

description: Abnormally small-sized handwriting is formally defined as an impairment of fine motor skills, which mainly manifests as a progressive or stable reduction in amplitude during a writing task.


2-3 toe syndactyly

description: Syndactyly with fusion of toes two and three.


Chiari malformation type II

description: Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.


Elevated right atrial pressure

description: An abnormal increase in magnitude of the pressure in the right atrium.


tongue neoplasm

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


name: Transient decreased circulating total IgG

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


Heterotopic dermal ossification

description: Formation of abnormal, extraskeletal bony tissue in the dermis (i.e., the layer of skin that lies beneath the epidermis and above the subcutaneous layer).


name: Elevated circulating glycylproline concentration

description: Concentration in the bloodstream of glycylproline above the upper limit of normal. Glycylproline is a dipeptide composed of glycine and proline, and is an end product of collagen metabolism that is further cleaved by prolidase (EC 3.4.13.9).


Opportunistic fungal infection

description: An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system.


Fetal nuchal edema

description: Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis.


Pili canaliculi

description: A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy.


Cutaneous sclerotic plaque

description: A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening).


Red-brown urine

description: An abnormal red-brown color of the urine.


Monomorphic vesicular eruption

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


name: Elevated circulating 3-hydroxyanthranilic acid concentration

description: The concentration of 3-hydroxyanthranilic acid in the blood circulation is above the upper limit of normal.


urticaria, aquagenic

description: Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success.


Hepatic agenesis

description: Absence of the liver owing to a failure of the liver to develop.


Abnormal metabolism

description: An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.


Achilles tendonitis

description: Inflammation of the Achilles tendon.


Elevated RV/TLC ratio

description: An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation.


facial nerve disorder

description: A disease involving the facial nerve.


Elevated urine octanoic acid level

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


Abnormal tarsal ossification

description: An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


Hypoplasia of the olfactory bulb

description: Underdevelopment of the olfactory bulb.


Phobia

description: Extreme, irrational, and persistent fears of certain objects, situations, activities, or persons can impede functioning in day-to-day life.


Abnormal thrombosis

description: Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).


name: Increased circulating heparan sulfate level

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


Sudden unexpected death in epilepsy

description: Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death.


Functional abnormality of the inner ear

description: An abnormality of the function of the inner ear.


name: Linear IgG deposits along the epidermal basement membrane zone

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


Absent uvula

description: Lack of the uvula.


name: Osteolytic defects of the middle phalanx of the 5th toe


Anti-GlyR antibody

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


Esophageal duplication

description: A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication.


name: Absent right sided atrioventricular connection

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


Bence Jones Proteinuria

description: The presence of free monoclonal immunoglobulin light chains in the urine.


Small cervical vertebral bodies

description: Reduced size of cervical vertebrae.


Atrial septal hypertrophy

description: An abnormal increase in the thickness of the atrial septum.


name: Irregular epiphyses of the middle phalanges of the hand


name: Proximal/middle symphalangism of 3rd finger

description: Fusion of the proximal and middle phalanges of the 3rd finger.


Cutaneous granuloma

description: A granuloma localized to the skin, that is, a chronic inflammatory manifestation with localized aggregation of histiocytes with or without other inflammatory cells (such as plasma cells, eosinophils, or neutrophils), with or without necrosis, with or without vasculitis, with or without calcification, and with or without foreign bodies. Granulomas may be due to infection or chronic inflammatory disease or reactions to foreign material.


Positive lupus band test

description: Deposits of immunoglobulins and complement components along the dermoepidermal junction.


name: Substantia nigra dopaminergic neuron loss

description: Degeneration and loss of neruons in the substantia nigra of the brain.


Inflexible adherence to routines

description: A need to strictly adhere to repetitive routines or patterns of behavior which are created by the environment. One becomes upset or distressed when their routines are disrupted or altered.


Fixated interests

description: Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).


Narrow incisura width

description: Width of the incisura from the anterior to posterior border less than that observed in the average population.


Basilar artery calcification

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


Inguinal abscess

description: A circumscribed area of pus or necrotic debris in the groin (inguinal region).


Abnormal ovarian physiology

description: Any anomaly of ovarian function.


neuroblastic tumor

description: A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells.


Acrocyanosis

description: Bluish discoloration of the skin of the hands or feet.


myoclonic-astatic epilepsy

description: Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.


name: Abnormality of frontal process of maxilla

description: An abnormality of a frontal process of the maxilla bone.


Schmorl's node

description: A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.


Bent sperm flagella

description: The proportion of sperm cells whose flagella is sharply curved or has a sharp angle is above normal limits.


name: Ivory epiphysis of the middle phalanx of the 5th finger

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


name: Hypothalamic gonadotropin-releasing hormone deficiency


Mild albuminuria

description: The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol).


name: Interlobular vein intima/media multilamellation

description: Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers.


Severe sensorineural hearing impairment

description: A severe form of sensorineural hearing impairment.


Peripheral arterial calcification

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


name: Impaired epinephrine-induced platelet aggregation

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


Pulmonic valve myxoma

description: A benign tumor of connective tissue containing mucous or gelatinous material (myxoma) localized in the pumonic valve.


name: Abnormal morphology of the proximal phalanx of the 2nd toe


aplasia cutis congenita

description: Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.


Unicuspid aortic valve

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


Rounded middle phalanx of finger

description: An abnormally round shape of the middle phalanx of the finger.


Bilateral intracerebral calcifications

description: Deposition of calcium salts on both sides of the cerebrum.


Y-shaped metatarsals

description: Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly.


name: Aplasia cutis congenita of midline scalp vertex


name: Abnormal thyroid-stimulating hormone level

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


Tibial bowing

description: A bending or abnormal curvature of the tibia.


High posterior hairline

description: Hair on the neck extends less inferiorly than usual.


name: Bilateral single transverse palmar creases

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


Episodic fatigue

description: Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation.


atresia of urethra

description: Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development.


Subarterial ventricular septal defect

description: A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum.


paranasal sinus neoplasm

description: A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


Asternia

description: The congenital absence of the sternum.


Animal dander allergy

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


name: Increased circulating complement factor H related protein 1 concentration

description: Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation.


name: Elevated circulating 3-hydroxybutyric acid concentration

description: Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range.


chylous ascites

description: Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.


Abnormal odontoid process morphology

description: Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis.


name: Focal aware cognitive seizure with illusion

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


Midclavicular aplasia

description: Developmental defect resulting in congenital absence of the middle portion of the clavicle.


name: Focal impaired awareness cognitive seizure

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


Urinary mulberry cells

description: Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance.


disorder of sexual differentiation

description: A congenital disorder characterized by abnormalities in the development of the sexual characteristics.


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


Peripheral hypermyelination

description: Increased amount of peripheral myelination.


Sparse anterior scalp hair

description: Decreased number of head hairs per unit area on the anterior region of the scalp.


Complete tracheal ring

description: Continuous or nearly continuous configuration of the cartilaginous tracheal ring.


Herpetiform vesicles

description: Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles.


Cognitive fatigue

description: A failure to sustain attention that requires self-motivation to optimize performance.


name: Complete duplication of the middle phalanx of the 2nd toe

description: Complete duplication of middle phalanx of second toe.


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


Fetal abdominal cyst

description: Fetal abdominal cysts are usually detected during the second trimester anomaly scan or discovered incidentally at later gestations. However, a definitive diagnosis is often not made until postnatal life. The most common etiologies of fetal abdominal cysts are: ovarian, gastrointestinal cystic duplication, liver and choledochal, meconium pseudocysts, mesenteric and adrenal. Following identification of a cyst, careful morphological assessment allows the prediction of their natural history and importantly, the likelihood of surgical intervention being required postnatally.


Precocious puberty in males

description: The onset of puberty before the age of 9 years in boys.


Prolonged central motor conduction time

description: Increased duration of the central motor conduction time (CMCT). The CMCT estimates the conduction time of corticospinal fibers between motor cortex and spinal (or bulbar) motoneurons. It includes the times for excitation of cortical cells, conduction via the corticobulbar-corticospinal tract and excitation of the motoneuron sufficient to reach its firing threshold. CMCT is calculated by subtracting the peripheral conduction time from the MEP latency recorded after cortical stimulation.


Anti-pituitary antibody positivity

description: Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function.


Long ulna

description: Increased length of the ulna.


name: diffuse nonepidermolytic palmoplantar keratoderma

description: A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.


Curved 4th toe phalanx

description: A deviation from the normal straight form of one or more phalanges of the fourth toe.


name: Sclerosis of the proximal phalanx of the 5th finger


EEG with temporal focal spike waves

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


name: Abnormal circulating enzyme concentration

description: The concentration or activity of an enzyme in the blood circulation is outside of the limits of the normal range.


name: Abnormal circulating hyaluronic acid concentration

description: A deviation from the normal concentration of hyaluronic acid in the blood.


name: Focal sensory seizure with cephalic sensation

description: A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation.


Recurrent cystitis

description: Repeated infections of the urinary bladder.


Hyperplasia of the Leydig cells

description: Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.


Anti-thyroglobulin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.


Parasite allergy

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


Polygonal renal calices

description: An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance).


liposarcoma

description: A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors.


Cutaneous anergy

description: Inability to react to a delayed hypersensitivity skin test.


Reduced progressive sperm motility

description: A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion.


name: Impaired cortisol response to insulin stimulation test

description: Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT).


Uterine prolapse

description: The presence of prolapse of the uterus.


Onychogryposis

description: Nail that appears thick when viewed on end.


name: Hyperdynamic left ventricular ejection fraction

description: An abnoramlly increased ejection fraction of the left ventricle, usually defined as a left ventricular ejection fraction greater than 70 percent.


Fractured metacarpus skeleton

description: A partial or complete breakage of the metacarpus skeleton.


Widow's peak

description: Frontal hairline with bilateral arcs to a low point in the midline of the forehead.


Bilateral coxa valga

description: The presence of bilateral coxa valga.


Abnormal HDL2a concentration

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


name: Dust particle inclusion in alveolar macrophages

description: Accumulation of inhaled, nondigestable particles in macrophages.


Bilateral radial aplasia

description: Missing radius bone on both sides associated with congenital failure of development.


Abnormal blood potassium concentration

description: An abnormal concentration of potassium.


name: Triangular shaped distal phalanx of the 2nd toe


name: Triangular shaped distal phalanges of the hand


Neutrophilic infiltration of the skin

description: A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin).


name: telangiectasia macularis eruptiva perstans


Foot osteomyelitis

description: An infection of bone of the foot.


name: Calcification of the small brain vessels

description: Deposition of calcium salts within small blood vessels of the brain.


Enamel pearls

description: Small nodules of enamel on the root of a tooth.


Aplasia/Hypoplasia of the mandible

description: Absence or underdevelopment of the mandible.


name: Curved proximal phalanx of the 4th finger


Stroke-like episode

description: No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.


Left ventricular thrombus

description: A blood clot (thrombus) localized in the left ventricle. Left ventricular thrombus is a serious complication of acute myocardial infarction and also of non-ischemic cardiomyopathies.


Abnormal glomerular filtration rate

description: An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.


Abnormal ischium morphology

description: An anomaly of the ischium, which forms the lower and back part of the hip bone.


inner ear neoplasm

description: A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma.


Increased inflammatory response

description: A abnormal increase in the inflammatory response to injury or infection.


Abnormal consumption behavior

description: Recurrent abnormal consumption of food, liquids, or objects that could have negative consequences for the individual.


Absent sternal ossification

description: Lack of formation of mineralized bony tissue of the sternum.


Coronary ostial atresia

description: Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve.


Anterior pituitary agenesis

description: Absence of the anterior pituitary gland resulting from a developmental defect.


Weakness of muscles of respiration

description: Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles.


name: Paresis of extensor muscles of the big toe


Decreased urinary 3-methylhistidine

description: Decreased concentration of 3-methylhistidine in the urine.


Splayed toes

description: Divergence of digits along the anteroposterior axis (in the plane of the sole).


isolated congenital adermatoglyphia

description: Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.


name: Osteolytic defects of the phalanges of the 3rd toe


Anti-aquaporin 4 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4.


name: Complete right sided absence of pericardium

description: No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy.


name: Abnormal circulating protein concentration

description: An abnormal level of a circulating protein in the blood.


Absent palatine bone ossification

description: Lack of formation of the palatine bone.


Arteria lusoria

description: Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria.


name: Delayed somatosensory central conduction time

description: An abnormal increase (delay) in the somatosensory central conduction time (CCT), which can be measured from the peak of N13 to the peak of N20 (peak CCT) or from the onset of N11 to the onset of N20 (onset CCT).


Olivopontocerebellar hypoplasia

description: Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.


Abnormal cricoid cartilage morphology

description: Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx.


Cone-shaped epiphyses of the 2nd finger

description: A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.


Galactosuria

description: Elevated concentration of galactose in the urine.


name: Advanced pneumatization of cranial sinuses

description: A degree of pneumatization that is increased compared to age-related norms.


Myoclonic absence seizure

description: Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.


Experiential epileptic aura

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


Coronary artery fistula

description: A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel.


Prenatal double bubble sign

description: Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign.


Abnormal urinary mineral level

description: An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium.


Segmental hypoplasia of liver

description: Anatomically the liver is divided into right and left lobes based on the attachment of its peritoneal ligaments. This term refers to a developmental anomaly characterzied by the underdevelopment of one of the lobes of the liver. This is a rare and usually asymptomatic anomaly that can be detected incidentally on cross sectional imaging with computed tomography or magnetic resonance imaging.


Hepatic focal nodular hyperplasia

description: Hepatic focal nodular hyperplasia (FNH) is a benign hepatic tumor. FNH develops within hepatic parenchymal tissue that is otherwise histologically normal. Macroscopically, the tumor is characterized by the presence of depressed, grayish-white scar, which is generally (but not always) located at the center of the lesion, with fibrous septa radiating outward, toward the periphery of the tumor. This stellate scar is found in only 50% of all FNH nodules, but its presence is regarded as pathognomonic. The lesion itself is usually lighter in color than the tissue that surrounds it, and it sometimes has a yellowish hue. FNH nodules are generally not capsulated; their margins are well defined, and they are sometimes lobulated.


name: Cortical radial artery intima/media arteriosclerosis

description: Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina.


Dystopic os odontoideum

description: Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus


Palmar hyperkeratosis

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


name: Polymorphic and polytopic ventricular extrasystoles


Fatigable weakness of chewing muscles

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


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


Persistent stapedial artery

description: Persistence of the stapedial artery, which normally regresses during embryonic life.


name: Elevated circulating o-phosphoethanolamine concentration

description: An increased concentration of o-phosphoethanolamine in the blood circulation.


anaplastic large cell lymphoma

description: Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL.


Gastric volvulus

description: A gastric volvulus occurs when the stomach rotates on itself at least 180 degrees along its transverse or longitudinal axis.


Migrating focal seizure

description: A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations.


Elevated urinary inosine level

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


name: Anti-contactin-associated protein 1 antibody positivity

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


Short foot

description: A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).


medulloblastoma

description: A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity.


name: congenital pulmonary airway malformation

description: An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size.


name: Milky appearance of bronchoalveolar lavage fluid

description: Return of lavage fluid with a milky appearance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space.


name: Abnormal circulating collagen degradation product concentration

description: Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.


name: Translamellar mucoid extracellular matrix accumulation

description: A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees.


name: Left ventricular noncompaction cardiomyopathy

description: Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.


name: Increased urinary disaccharide excretion

description: Increased concentration of disaccharide in the urine.


teratoma

description: A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.


Superior pubic ramus hypoplasia

description: Underdevelopment of the upper branch of the pubis bone (inferior pubic ramus).


name: Elevated urinary 2-oxovaleric acid level

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


Aplasia/Hypoplasia of the thumb

description: Hypoplastic/small or absent thumb.


name: thrombophilia due to activated protein C resistance

description: A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.


fibrous dysplasia

description: A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures.


Patchy sclerosis of toe phalanx

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


Bullet-shaped 2nd toe phalanx

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


name: Abnormal proportion of central memory CD4-positive, alpha-beta T cells

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


Abnormal DLCO

description: An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs.


Curved middle phalanx of the 3rd finger

description: Curved appearance of the middle phalanx of the 3rd (middle) finger.


Reflex asystolic syncope

description: A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure.


Abnormality of body mass index

description: Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages.


Hypoamylasemia

description: Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.


Tendon xanthomatosis

description: The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).


name: Yellow subcutaneous tissue covered by thin, scaly skin


Spastic gait

description: Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.


name: Cerebellar ataxia associated with quadrupedal gait

description: The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight).


name: Diminishment of comfort with casual physical contact

description: A reduction in the tendency of a person to accept casual physical contact with others as compared to that person's previous norm.


Lymphangiosarcoma

description: A malignant neoplasm arising from the endothelial cells of the lymphatic vessels.


name: Pseudoepiphysis of the distal phalanx of the thumb

description: A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb.


Hypermobility of interphalangeal joints

description: The ability of the interphalangeal joints to move beyond their normal range of motion.


Abnormal midbrain morphology

description: An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.


Patellar hypoplasia

description: Underdevelopment of the patella.


name: Elevated circulating membrane cofactor protein concentration

description: Concentration of membrane cofactor protein in the blood circulation above the upper limit of normal.


name: Abnormal level of platelet-activating factor


Factor X activation deficiency

description: Reduced ability to transform factor X into its activated form factor Xa.


Absent toenail

description: Congenital absence of the toenail.


Amyelia

description: Congenital absence of the spinal cord.


Abnormality of premolar

description: An abnormality of premolar tooth.


Fluctuating hepatomegaly

description: Intermittently increased size of the liver.


name: Abnormality of the hypothalamus-pituitary axis

description: Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.


Anti-factor XIII antibody positivity

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


Toenail dysplasia

description: An abnormality of the development of the toenails.


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


3-methylglutaconic aciduria

description: A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.


Increased proportion of memory T cells

description: An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood.


Neonatal electro-clinical tonic seizure

description: Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes.


Cystathioninemia

description: An increased concentration of cystathionine in the blood.


Short phalanx of the 5th toe

description: Developmental hypoplasia of one or more phalanx of little toe.


Hypomature dental enamel

description: A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color.


name: Elevated urinary N-carbamyl-beta-aminoisobutyric acid level

description: The amount of N-carbamyl-beta-aminoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Inappropriately normal thyroid-stimulating hormone level

description: A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3.


name: familial isolated hypoparathyroidism due to agenesis of parathyroid gland

description: Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis).


name: Thyrotoxicosis with toxic multinodular goiter


Papillary dermal edema

description: Swelling due to fluid acculuation of the papillary dermis.


name: Increased CSF N-acetylaspartic acid concentration

description: An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF).


Aorto-right ventricular tunnel

description: The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle.


name: Abnormal circulating heparan sulfate level

description: An abnormal level of heparan sulfate in the blood.


name: Cone-shaped epiphyses of phalanges 2 to 5


name: Anti-glutamic acid decarboxylase antibody positivity

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


Femoral retroversion

description: An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing).


Abnormal rib cage morphology

description: A morphological anomaly of the rib cage.


Curved 2nd toe phalanx

description: A deviation from the normal straight form of one or more phalanges of the second toe.


Thyroid hyperplasia

description: Hyperplasia of the thyroid gland.


neoplasm of testis

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


Proprioceptive-induced seizure

description: A seizure precipitated by movement or a change in posture.


Increased skull ossification

description: An increase in the magnitude or amount of ossification of the skull.


escherichia coli infection

description: Infection with the organism Escherichia Coli.


Thickened calvaria

description: The presence of an abnormally thick calvaria.


Knee flexion contracture

description: A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.


name: Anti-salivary protein antibody positivity

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


Increased KCO

description: Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).


acute monocytic leukemia

description: Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11).


name: Triangular epiphysis of the proximal phalanx of the 5th finger

description: A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


Pineal gland calcification

description: Accumulation of calcium salts in the pineal gland.


posterior pituitary gland neoplasm

description: A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma.


name: Elevated brain N-acetyl aspartate level by MRS

description: An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).


2-5 toe syndactyly

description: Syndactyly with fusion of toes two to five.


Carnosinuria

description: An increased concentration of carnosine in the urine.


name: Hypertension associated with pheochromocytoma

description: A type of hypertension associated with pheochromocytoma.


Saccular abdominal aortic aneurysm

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


name: Abnormality of the middle phalanx of the 5th finger


Abnormal perceptual state

description: Temporary alteration of the awareness of reality or self-perception.


Nasogastric tube feeding

description: The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food.


name: Aplasia/Hypoplasia of the middle phalanx of the 4th finger


name: Triangular epiphysis of the proximal phalanx of the 4th finger

description: A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


Anti-ganglioside antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides.


pseudobulbar palsy

description: A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes.


Defective B cell differentiation

description: Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.


name: Absent microvilli on the surface of peripheral blood lymphocytes

description: Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.


spondyloepimetaphyseal dysplasia

description: An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.


Progressive distal muscle weakness

description: Progressively reduced strength of the distal musculature.


Anti-bicaudal D2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2.


Reduced antral follicle count

description: A count of antral follicles that is lower than normal for age.


Focal impaired awareness clonic seizure

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


Abnormal speech rhythm

description: Speech with abnormal rhythm or pattern


Cone-shaped epiphysis of the thumb

description: A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.


Wide space between 4th and 5th toe

description: A widely spaced gap between the fourth toe and the fifth (pinky) toe.


Hypoganglionosis

description: Sparse and small myenteric ganglia


Aplasia/Hypoplasia of the tragus

description: Aplasia or developmental hypoplasia of the tragus.


Mesangiolysis

description: Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain.


Reduced maximal expiratory pressure

description: A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration.


Encysted hydrocele of the cord

description: A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it.


oppositional defiant disorder

description: A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors.


name: Cardiac total anomalous pulmonary venous connection

description: Type 2 total anomalous pulmonary venous connection.


Aplasia/Hypoplasia of the quadriceps

description: Absence or underdevelopment of the quadriceps muscle.


name: Aplasia/Hypoplasia involving the metacarpal bones

description: Aplasia or Hypoplasia affecting the metacarpal bones.


Hyperextensibility of the finger joints

description: The ability of the finger joints to move beyond their normal range of motion.


name: Fractured proximal phalanx of pedal digit 1

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


Anti-class II HLA antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class II human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR).


Abnormal male germ cell morphology

description: A structural anomaly of a male reproductive cell.


Fetal oral mass

description: A swelling or enlargment localized to the oral cavity of a fetus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. This finding is generally first observed by prenatal sonography or magnetic resonance imaging.


Claw hand deformity

description: An abnormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw.


Triangular epiphyses of the 3rd finger

description: A triangular appearance of the epiphyses of the 3rd finger of the hand.


Altman type III sacrococcygeal teratoma

description: A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass.


name: Persistent asymmetrical tonic neck reflex

description: Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers.


Low serum osmolality

description: Serum osmolality, which is defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea, is below the lower limit of normal.


name: mitochondrial complex II deficiency, nuclear type 1

description: Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers.


Flared metaphysis

description: The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.


Anterior open-bite malocclusion

description: Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.


Atherosclerotic lesion

description: A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus.


Skip lesions on temporal artery biopsy

description: Patchy inflammation of the superficial temporal artery, forming isolated foci of arteritis.


Proximal hyperreflexia

description: Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee).


Generalized seborrheic dermatitis

description: Seborrheic dermatitis that is not localized to any one particular region.


Aplasia of the 4th finger

description: Absent 4th finger.


name: Increased proportion of CD8-positive, alpha-beta TEMRA T cells

description: An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.


Polyotia

description: The presence of an extra auricle on one or both sides of the head.


name: Increased circulating lactate concentration

description: Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).


Skin pit

description: A small, skin-lined tract that leads from the surface to deep within the tissues.


Palmoplantar hypohidrosis

description: Decreased sweating on the palms and soles.


Abnormal endocrine physiology

description: Any anomaly of the function of the endocrine system.


Abnormal cardiomyocyte morphology

description: Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue.


Nevus flammeus of the forehead

description: Naevus flammeus localized in the skin of the forehead.


lipomyelomeningocele

description: Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome.


Abnormal calvaria morphology

description: Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.


Unguarded tricuspid valve

description: A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue.