Cardiac teratoma

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


Triplomyelia

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

description: Triplication of the spinal cord - extremely rare.


Penile thrush

description: Overgrowth of candida albicans in the penis.


name: Impaired collagen-induced platelet aggregation

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


Follicular hyperkeratosis

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


Abnormal adiponectin level

description: A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism.


name: Fibrillar glomerular subepithelial deposits

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


Aplasia cutis congenita of scalp

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


name: Focal aware emotional seizure with crying

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


Fractured sternoclavicular joint

description: A partial or complete breakage of the sternoclavicular joint.


Everted antitragus

description: Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear).


Ovarian torsion

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


name: Left aortic arch with isolated subclavian artery

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


name: Aplasia/Hypoplasia of the distal phalanx of the thumb


name: Abnormal circulating C-reactive protein concentration

description: Any deviation from the normal concentration of C-reactive protein in the blood circulation.


Abnormal frontal bone morphology

description: An abnormality of the frontal bone.


Shoulder muscle hypoplasia

description: Underdevelopment of muscles of the shoulder.


Temporal lobe calcification

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


name: Decreased circulating dihydrotestosterone concentration

description: A reduced concentration of dihydrotestosterone in the blood circulation.


congestive splenomegaly

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

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


Fractured forearm bones

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


name: Multinucleation of renal tubular epithelial cells

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


Sertoli cell-only phenotype

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


Stiff knee

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


name: Cone-shaped epiphysis of the middle phalanx of the 3rd finger

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


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


Decreased acrosin in sperm head

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


Bronchomegaly

description: Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection.


name: Elevated circulating hydroxyphenlyllactic acid concentration

description: An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation.


Increased serum zinc

description: An increased consentration of zinc in the blood.


Aplasia of the sweat glands

description: Absence of the sweat glands.


Ileal atresia

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


Torsion of appendix of testis

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


name: Elevated circulating C6 acylcarnitine concentration

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


Microphallus

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


Arterial occlusion

description: Blockage of blood flow through an artery.


Distal humeral metaphyseal irregularity

description: Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow).


name: Increased level of methylsuccinic acid in urine

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


Thinking-induced seizure

description: Seizures induced by thinking and decision-making.


Absence of acoustic reflex

description: Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.


Glomerular capillary wire loop deposits

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


Tragal bridge of crus of helix

description: The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix.


Increased urinary glycerol

description: An increased concentration of glycerol in the urine.


Increased overbite

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


name: Elevated CSF guanidinoacetic acid concentration

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


Vaginal bleeding during sex

description: Bleeding during sex.


brachydactyly type D

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


Abnormality of the urinary system

description: An abnormality of the urinary system.


Absent humeral epiphyseal ossification

description: Lack of formation of bone in the epiphysis of the humerus.


Non-necrotizing granuloma

description: A granuloma which is not associated with necrotic changes.


name: Cone-shaped epiphysis of the middle phalanx of the 4th finger

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


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

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


Fetal trigonocephaly

description: A fetal ultrasound finding defined by flattening of the occiput with pointing of the frontal bones and brachycephaly with an increased cephalic index. It is characterized by keel shaped deformity of forehead with midline ridge, bilateral fronto temporal constriction with compensatory biparietal expansion, supra orbital and lateral orbital retrusion and hypotelorism. This finding is said to resemble a strawberry.


Bracket epiphysis of the 1st metacarpal

description: An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate.


Prominent median palatal raphe

description: Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.


name: Increased urine pentacarboxylporphyrin level

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


Cutaneous amyloidosis

description: The presence of amyloid deposition in the superficial dermis.


coccidioidomycosis

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


lobar holoprosencephaly

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


Aplastic colon

description: Congenital absence of the colon


Abnormal cerebrospinal fluid morphology

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


name: Partial duplication of the proximal phalanx of the 3rd finger

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


name: Triangular epiphysis of the middle phalanx of the 3rd finger

description: A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


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


Aortic valve leaflet calcification

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


Mid-frequency hearing loss

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


Abnormal gesture use

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


name: Abnormality of the shoulder girdle musculature


Frontal venous angioma

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


name: Aplasia/Hypoplasia of the phalanges of the 4th finger


Hypoglycemic encephalopathy

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


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


Abnormality of the pineal gland

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


name: Lack of gonadotropin-releasing hormone pulsatility

description: Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion.


name: Postlingual sensorineural hearing impairment

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


Telangiectasia of the oral mucosa

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


Hyperglutaminemia

description: An increased concentration of glutamine in the blood.


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


Abnormal biliary tract morphology

description: A structural abnormality of the biliary tree.


name: Multilamellation of cortical peritubular capillary basement membranes

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


Autoimmune antibody positivity

description: The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.


name: Dilatation of Inferior mesenteric artery

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


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


name: Elevated urinary isovalerylglycine level

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


Decorticate rigidity

description: A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus.


Hemiatrophy of upper limb

description: Unilateral atrophy (reduction in size) of an arm.


Open neural tube defect

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


Abnormal T-wave

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


Atrial situs inversus

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


name: Focal aware orofacial automatism seizure

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


name: Increased urinary multiantennary sialylated oligosaccharide

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


laryngostenosis

description: Narrowing of the laryngeal airway.


name: Elevated circulating C18 acylcarnitine concentration

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


Typical absence status epilepticus

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


Abnormal placental membrane morphology

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


Gustatory agnosia

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


Elevated residual volume

description: Increase in the amount of air remaining in a person's lungs after full exhalation.


Type IV truncus arteriosus

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


name: Abnormal circulating valine concentration

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


name: Enlarged epiphysis of the 1st metatarsal


Dependency on parenteral nutrition

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


Elevated brain creatine level by MRS

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


Arcuate vein intimal mucoid edema

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


Epispadias

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


name: Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity


Abnormal tarsal bone mineral density

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


Hypernatriuria

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


congenital laryngeal cyst

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


Nut food product allergy

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


Nevus flammeus nuchae

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


Chronic cough

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


Dysplasia of the femoral head

description: The presence of developmental dysplasia of the femoral head.


Very preterm birth

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


name: Dysfunction of lateral corticospinal tracts


Phenotypic abnormality

description: A phenotypic abnormality.


Absent axillary hair

description: Absence of axillary hair.


Abnormal renal pelvis morphology

description: An abnormality of the renal pelvis.


Aplasia/Hypoplasia of fingers

description: Small/hypoplastic or absent/aplastic fingers.


Dislocated radial head

description: A dislocation of the head of the radius from its socket in the elbow joint.


Abnormal odontoid tissue morphology

description: An abnormality of an odontoid tissue.


Feeding difficulties

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


Absent malleus

description: Aplasia of the malleus.


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

description: Uneven (irregular) increase in bone density of the middle phalanx of the third finger.


Rest limb pain

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


Unilocular ovarian cyst

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


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

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


Anomalous pulmonary venous return

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


name: Abnormal CSF branched chain amino acid concentration

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


Chordee

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


name: Anti-transcription intermediary factor-1gamma antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma.


Fractured sternum

description: A partial or complete breakage of the sternum.


name: Abnormality of circulating beta-2-microglobulin level

description: A deviation from the normal concentration of beta-2-microglobulin in the blood.


Abnormal atrioventricular connection

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


Lactescent serum

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


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

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


Triceps aplasia

description: Absence of the triceps muscle.


name: Absence of large von Willebrand factor multimers

description: Absence of large von Willebrand Factor multimers on gel electrophoresis.


Cupped ear

description: Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).


Decreased level of D-mannose in urine

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


hereditary antithrombin deficiency

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


Salt craving

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


Proximal fibular overgrowth

description: Overgrowth of the proximal part of the fibula.


name: Abnormal peripheral nervous system physiology

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


Light-chain paraproteinemia

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


Pneumomediastinum

description: The presence of free air in the mediastinum.


Airway casts

description: A replicate of airways from accumulated and condensed mucous and cellular material. These semisolid occlusions take the shape of the airway within they are formed, leading to obstruction of the tracheobronchial tree with consecutive respiratory insufficiency. Based on their principal composition, one can differentiate fibrin casts and mucin casts. Plastic bronchitis is the name of the condition characterized by the formation of airway casts.


name: Expanded metacarpals with widened medullary cavities


name: Generalized convulsive status epilepticus

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


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


Widely patent coronal suture

description: The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed.


name: Aplasia/Hypoplasia involving the musculature of the upper arm

description: Absence or underdevelopment of the muscles of the upper arm.


AV nodal tachycardia

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


Impaired clot retraction

description: Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration.


name: Irregular epiphysis of the proximal phalanx of the thumb

description: Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


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

description: A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Anti-CV2/CRMP5 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum.


name: Absent pigmentation of the ventral chest

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


Congenital megaureter

description: A developmental disturbance with extreme ureteral dilatation.


name: Abnormal circulating amylase concentration

description: A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.


Abnormal seventh cranial physiology

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


Pulmonary necrosis

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


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

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


hypoaldosteronism disease

description: Abnormally low levels of aldosterone in the blood.


Elevated terminal:vellus ratio

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


Retrocollis

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


name: Abnormality of reproductive system physiology

description: An abnormal functionality of the genital system.


Low-grade fever

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


Anti-GFAP antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP).


Anti-Ro52/TRIM21 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21.


name: Shortening of all middle phalanges of the fingers

description: Short, hypoplastic middle phalanx of finger, affecting all fingers.


name: Abnormal peripheral nervous system ganglion morphology

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


Nodular pattern on pulmonary HRCT

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


name: Decreased level of tissue plasminogen activator

description: The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis


Hypoplasia of the small intestine

description: Underdevelopment of the small intestine.


Delusion of control

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


cutaneous leiomyosarcoma

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


Diffuse alveolar damage

description: Diffuse alveolar damage (DAD) describes a common histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis, and crack cocaine inhalation.


Impaired distal vibration sensation

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


Aortic elastic fiber thinning

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


Cone-shaped metacarpal epiphyses

description: A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones.


Aplasia/Hypoplasia of the clavicles

description: Absence or underdevelopment of the clavicles (collar bones).


EEG with spike-wave complexes (<2.5 Hz)

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


name: rosette-forming glioneuronal tumor of fourth ventricule

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


Wide cavum septum pellucidum

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


Tongue fasciculations

description: Fasciculations or fibrillation affecting the tongue muscle.


Posterolateral diaphragmatic hernia

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


Motor deterioration

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


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


name: Abnormal circulating arginine concentration

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


Decreased serum estradiol

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


Excessive eye contact

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


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

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


Focal emotional seizure

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


name: Disseminated infection with live vaccine virus

description: A dissemination viral infection caused by a live attenuated vaccine virus.


Broad 4th toe

description: A broad appearance of the fourth toe.


name: Low-frequency sensorineural hearing impairment

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


name: Decreased immunoglobulin level in body fluid

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


Craniofacial osteosclerosis

description: Abnormally increased density of craniofacial bone tissue.


Abnormality of mesenteric lymph nodes

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


Shoulder external rotation contracture

description: A type of shoulder contracture characterized by decreased internal rotation of shoulder, that is, by a chronic reduction in active and passive ability to internally rotate the humerus at the shoulder joint (if the arm is flexed at the elbow, Internal rotation of the shoulder rotates the forearm towards the center of the body).


Hawkinsinuria

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


Inferior pubic ramus hypoplasia

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


Broad humeral epiphyseal plate

description: Increased width of the humeral epiphyseal growth plate.


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

description: A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


name: Abnormal morphology of right ventricular trabeculae

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


name: Impairment of the reflex of the tensor tympani muscle


Bile duct polyp

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


Focal T2 hypointense thalamic lesion

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


Increased female libido

description: Elevated sexual desire in female


spinal muscular atrophy

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


Prominent subcalcaneal fat pad

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


name: Abnormality of the vertebral spinous processes


name: Elevated circulating parathyroid hormone level

description: An abnormal increased concentration of parathyroid hormone.


name: Decreased specific pneumococcal antibody level

description: The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.


Chondritis of pinna

description: Inflammation of the cartilage of the external ear.


Iliac crest serration

description: Irregularities of the iliac crest that produce the appearance of a lace border around it.


Abnormal renal corpuscle morphology

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


Anti-GQ1b IgM antibody positivity

description: The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.


name: Anti-acetylcholine receptor antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury.


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


Polymorphic vesicular eruption

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


female reproductive system neoplasm

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


Short uvula

description: Decreased length of the uvula.


Episodic flaccid weakness

description: Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.


Hippocampal atrophy

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


Abnormal circulating T4 concentration

description: A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).


name: Triangular epiphysis of the 1st metatarsal


EEG with changes in voltage

description: EEG with abnormal amplitude.


Deja vu aura

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


Abnormal hand morphology

description: Any structural anomaly of the hand.


Short forearm

description: Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.


Labile Hypertension

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


Decreased proportion of memory T cells

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


Hyperactive bowel sounds

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


Impairment in personality functioning

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


Triangular mouth

description: The presence of a triangular form of the mouth.


Elevated urine keto acid level

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


adenomyosis

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


cor triatriatum dexter

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


Severe generalized osteoporosis

description: Severe degree of osteoporosis.


Aplasia of the olfactory bulb

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


neurofibroma of the heart

description: A rare neurofibroma that affects the heart.


Abnormal pyramidal sign

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


pituitary dwarfism

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


name: Arcuate vein intima/media crystal accumulation

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


Abnormal quality of facial expression

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


Lacticaciduria

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


High pulse pressure

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


Intermittent painful muscle spasms

description: History of repeated intermittent involuntary muscle contractions that were painful.


Jaw mass

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


Aplasia/Hypoplasia of the tongue

description: Absence or underdevelopment of the tongue.


Premature epimetaphyseal fusion in foot

description: Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.


Abnormal pulmonary artery physiology

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


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


Moderate conductive hearing impairment

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


Decreased CSF arginine concentration

description: Abnormally decreased levels of arginine in cerebrospinal fluid.


name: Focal impaired awareness emotional seizure with anger

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


name: Increased circulating farnesol concentration

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


Poorly ossified cervical vertebrae

description: Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set.


Greater auricular nerve thickening

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


Coronary cameral fistula

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


Abnormal cardiac index

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


Agyria

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


Myofiber disarray

description: A nonparallel arrangement of cardiac myocytes.


Aplasia/Hypoplasia of the tibia

description: Absence or underdevelopment of the tibia.


Gallbladder enlargement

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


facial cleft

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


Abnormal proportion of immature B cells

description: A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).


Abnormal intervertebral disk morphology

description: Any structural abnormality of the intervertebral disk.


name: Neonatal seizure with unilateral automatism

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


Ovarian mass

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


name: Elevated circulating short-chain acylcarnitine concentration

description: Concentration of short-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Short chain acylcarnitines have between two and five carbon atoms in the acyl-chain (C2-C5),


Fusion of the left and right thalami

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


name: Abnormality of the somatic nervous system

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


Abnormal ear morphology

description: Any structural anomaly of the ear.


Increased HDL3a concentration

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


Hand muscle weakness

description: Reduced strength of the musculature of the hand.


Abnormal dura mater morphology

description: An abnormality of the Dura mater.


Periapical tooth abscess

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


Gerbode ventricular septal defect

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


Hypoplastic helices

description: Underdevelopment of the helix, i.e., of the outer rim of the pinna.


name: Stippling of the epiphyses of the 3rd finger

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger.


name: Abnormal circulating free fatty acid concentration

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


Usual-type tubular atrophy

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


Agenesis of the small intestine

description: Failure to develop of the small intestine.


Progressive spasticity

description: Spasticity that increases in degree with time.


Increased circulating free T3

description: An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.


Fused thoracic vertebrae

description: A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another.


Bilateral cryptorchidism

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


Hand clenching

description: An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted.


Decreased CSF glycine concentration

description: Abnormally decreased levels of glycine in cerebrospinal fluid.


Glomerular synechial adhesion

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


name: Abnormal CSF serine family amino acid concentration

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


name: Abnormal circulating methionine concentration

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


Aplasia/hypoplasia of the uterus

description: Absence or developmental hypoplasia of the uterus.


name: Abnormality of peripheral somatosensory evoked potentials


name: Focal aware cognitive seizure with dyscalculia/acalculia

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


Abnormality of lingual tonsil

description: An abnormality of a lingual tonsil.


Focal impaired awareness atonic seizure

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


name: Grade III preterm intraventricular hemorrhage

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


name: Enteric intraneuronal nuclear inclusion bodies

description: Aggregates of stainable substances (proteins) in the nuclei of enteric neurons.


Fused nails

description: A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature.


46,XY sex reversal 11

description: Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene.


Abnormal periodontium morphology

description: Any abnormality of the periodontium.


Dermal immune complex deposition

description: Accumulation of antigen-bound antibody in the skin.


myxoid liposarcoma

description: A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma.


syringomyelia

description: Syringomyelia is characterized by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS).


Decreased plasma free carnitine

description: A decreased concentration of free (unbound) carnitine in the blood.


Visceral epithelial hyaline droplets

description: Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells.


Aplasia/Hypoplasia of the vagina

description: Aplasia or developmental hypoplasia of the vagina.


Decreased hepatic echogenicity

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


Addictive methylphenidate use

description: Addiction to methylphenidate.


Cerebellar gliosis

description: Focal proliferation of glial cells in the cerebellum.


Aplasia of lymphatic vessels

description: Aplasia (absence) of the lymphatic vessels.


Abnormal CSF biopterin concentration

description: Abnormal concentration of biopterin in the cerebrospinal fluid (CSF).


Unifocal splenic abscess

description: Single (solitary) abscess in the spleen.


name: Elevated circulating creatine concentration

description: An elevation above the normal range of creatine in the blood circulation.


name: Fragmentation of the epiphyses of the 4th toe


Abnormal putamen morphology

description: Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum.


Mottled pigmentation

description: Patchy and irregular skin pigmentation.


Asynergia

description: A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed.


name: Elevated circulating alpha-ketoglutarate concentration

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


Osteopathia striata

description: A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.


Paramedian lip pit

description: Depression located paramedially on the vermilion of a lip.


name: Elevated amniotic fluid alpha-fetoprotein

description: An elevation of alpha-feto protein measured in the amniotic fluid.


Abnormal pubic bone morphology

description: An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (pubis, ilium, ischium) of the hip bone.


Infantile muscular hypotonia

description: Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.


Central apnea

description: Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.


name: Stippling of the epiphysis of the distal phalanx of the 5th toe

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


Susceptibility to chickenpox

description: Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox.


name: Triangular shaped distal phalanx of the 3rd finger

description: Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Necrotizing vasculitis

description: A histopathological finding characterized by inflammation of the arterial and/or capillary and/or venous blood vessels, leading to a change in the vascular wall as a whole.


name: Focal impaired awareness sensory seizure

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


Abdominal wall muscle weakness

description: Decreased strength of the abdominal musculature.


name: Abnormal pulmonary alveolar system morphology

description: A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli.


name: congenital multicore myopathy with external ophthalmoplegia

description: An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity.


Chronic villitis

description: Villitis of unknown etiology (synonymous with villitis of unknown etiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis.


name: Abnormality of urine calcium concentration

description: An abnormality of calcium concentration in the urine.


Impaired renal concentrating ability

description: A defect in the ability to concentrate the urine.


Unilateral cleft lip

description: A non-midline cleft of the upper lip on one side only.


Skin-colored papule

description: A papule with the same color as the surrounding skin.


Echogenic fetal bowel

description: Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone.


Erratic myoclonus

description: A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous.


name: Increased aspartate family amino acid level in urine

description: An elevated level of an aspartate family amino acid in the urine.


Abnormal myelination

description: Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.


Paramesangial deposits

description: Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane.


Abnormal CSF glutamine concentration

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


Coronary sinus atrial septal defect

description: An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus.


name: Aplasia of posterior communicating artery

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


Single ventricle

description: The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.


Bifid first metacarpal

description: Partial duplication of the first metacarpal bone.


Small epiphysis of the 1st metacarpal

description: Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms.


Mild neurosensory hearing impairment

description: The presence of a mild form of sensorineural hearing impairment.


name: Bicarbonate-wasting renal tubular acidosis


Splenic necrosis

description: Cell dealth (necrosis) located in the spleen.


name: Recurrent trauma-related distressing dreams

description: Recurrent distressing dreams occur when the content and/or emotional impact of the dream is connected to a traumatic event or events.


P pulmonale

description: The presence of tall, peaked P waves in EKG lead II.


Short fourth metatarsal

description: Short fourth metatarsal bone.


Recurrent intrapulmonary hemorrhage

description: A recurrent hemorrhage occurring within the lung.


Solid pulmonary nodule

description: A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a "solid" appearance.


name: Reduced circulating transferrin concentration

description: An abnormally decreased concentration of transferrin in the blood circulation.


name: Renal tubular herpes simplex virus inclusions

description: Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis.


Risky behavior

description: Engaging in dangerous, risky, and potentially self-damaging activities, without considering the consequences, is a sign of recklessness. It involves a disregard for one's limitations and a denial of personal danger.


name: Elevated circulating very long-chain acylcarnitine concentration

description: Concentration of very long-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Very long-chain acylcarnitines have twentyone or more carbon atoms in the acyl-chain (C21 and higher),


Short distal phalanx of the 2nd finger

description: Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger.


Elevated urinary histamine level

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


Aplasia/Hypoplasia of the premaxilla

description: Absence or underdevelopment of the premaxilla.


name: Focal impaired awareness seizure with dissociation at onset

description: A focal cognitive epileptic seizure with dissociation at the onset of the seizure and with impairment of awareness at at some point during the seizure.


Abnormal T cell subset distribution

description: Any abnormality in the proportion T cells subsets relative to the total number of T cells.


EEG with occipital focal spikes

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


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

description: Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


name: Femoral bowing present at birth, straightening with time

description: Congenital onset bending or abnormal curvature of the femur that normalizes with age.


Mulberry molar

description: Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry.


Irregular epiphyses of the 4th finger

description: Irregular radiographic opacity of the epiphyses of the 4th finger.


Abnormal CSF glycine concentration

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


Increased arm span

description: Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).


name: Abnormal circulating aspartate family amino acid concentration

description: Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.


Fractured distal phalanx

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


name: Elevated CSF 5-hydroxymethyluracil concentration

description: The concentration of 5-hydroxymethyluracil in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Increased urinary hexanoic acid level

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


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

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


Abnormal lip morphology

description: An abnormality of the lip.


Hypocitraturia

description: A lower than normal concentration of citrate(3-) in the urine.


name: Unilateral absence of pectoralis major muscle

description: Aplasia (congenital absence) of the pectoralis minor on only one side of the chest.


name: Aplasia/Hypoplasia of the corpus callosum

description: Absence or underdevelopment of the corpus callosum.


Small intestine mass

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


Anti-Ma antibody positivity

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


Neutral hyperaminoaciduria

description: The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine.


2-4 toe cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4.


Hemiballismus

description: Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.


name: Anti-U1 ribonucleoprotein antibody positivity

description: The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP.


Lack of interest in peers

description: Lack of interest in peers of comparable age and social groups is evident when an individual, such as a child, shows more interest in socializing with adults rather than children their own age.


Left atrial isomerism

description: In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest.


Aplasia/Hypoplasia of metatarsal bones

description: Absence or underdevelopment of the metatarsal bones.


Pancreatic fistula

description: An abnormal communication between the pancreas and another organ or cavity.


Conical maxillary incisor

description: An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both.


name: Metachromatic intraneuronal lipid deposits

description: Accumulation of metachromatically staining lipid material in neurons. This finding is typically ascertained in a peripheral nerve.


Abnormal labia minora morphology

description: An anomaly of the labia minora, the folds of skin between the outer labia.


name: Rhomboid or triangular shaped 5th finger distal phalanx

description: Rhomboid or triangular shaped 5th (little) finger distal phalanx.


High palate

description: Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).


name: Impaired renal tubular reabsorption of glucose

description: Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption.


Dural tail sign

description: This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor.


name: Pseudoepiphysis of the proximal phalanx of the 2nd finger

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


factor X deficiency

description: A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood.


Hyperextensible skin

description: A condition in which the skin can be stretched beyond normal, and then returns to its initial position.


Upper extremity joint dislocation

description: Displacement or malalignment of one or more joints in the upper extremity (arm).


Leung cusp

description: An additional cusp located in the middle of the occlusal surface.


Malar rash

description: An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.


Adactyly

description: The absence of all phalanges of all the digits of a limb and the associated soft tissues.


name: Eosinophilic infiltration of the esophagus

description: Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.


Large keratohyaline granules

description: Abnormally large keratohyalin granules (KHG). KHG are typically present in the stratum granulosum of the epidermal layer of the skin (and epithelium of the mucosae). KHG are protein structures found in the keratinocytes of the stratum granulosum.


Radiculomegaly

description: Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length.


Vasculitis by histology

description: Vasculitis categorized according to type of histological abnormality.


Narrow philtrum

description: Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum.


spinal meningioma

description: Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent.


name: Decreased circulating adenosylcobalamin concentration

description: The concentration of adenosylcobalam in the blood circulation is below the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin B12.


name: Small epiphysis of the middle phalanx of the 3rd toe


name: EEG with temporal epileptiform discharges

description: Focal epileptiform EEG discharges recorded in the temporal region.


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


Splenic calcification

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


Elevated urine suberylglycine level

description: Level of suberylglycine in urine above upper limit of normal.


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


Atypical perifissural nodule

description: A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical).


Abnormal long bone morphology

description: An abnormality of size or shape of the long bones.


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


Praxis-induced seizure

description: A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making.


Increased cardiac index

description: An elevated cardiac index, defined as cardiac output divided by body surface area.


Narrow foramen obturatorium

description: Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis.


Paroxysmal tachycardia

description: An electrocardiographic finding of episodic tachycardia with abrupt onset and termination.


postaxial polydactyly of fingers

description: Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).


Fusion of gums

description: A congenital defect with an abnormal joining of the gums of the upper and lower jaw.


name: Abnormality of inferior crus of antihelix

description: An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.


Impaired ability to plan

description: Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity.


name: Impaired sensitivity to thyroid stimulating hormone

description: Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH).


Ventricular couplet

description: Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats.


keratosis pilaris atrophicans

description: An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair.


Infrequent social initiations

description: Social initiation refers to the ability to begin interactions with other people. This term refers to a reduction in the frequency with which an individual attempts to begin interactions. The term should only be used for individuals who are assessed to have sufficient intellectual and language skills to interact with others.


Blind vagina

description: The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.


name: Abnormality of the proximal fibular epiphysis

description: Any abnormality of the proximal epiphysis of the fibula.


nonsyndromic congenital nail disorder 2

description: The natural longitudinal (posterodistal) convex arch is not present or is inverted.


name: Aplasia/Hypoplasia of the middle phalanx of the 2nd finger


Abnormality of the middle ear

description: An abnormality of the middle ear.


name: Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia

description: A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.


Nasal regurgitation

description: Regurgitation of milk through the nose.


Elevated urinary aminoisobutyric acid

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


name: Gonadal tissue inappropriate for external genitalia or chromosomal sex


name: Abnormal peritubular capillary morphology

description: Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule,


Large basal ganglia

description: Increased size of the basal ganglia.


name: Focal aware cognitive seizure with dyslexia/alexia

description: A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure.


name: Abnormal circulating carboxylic acid concentration

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


nominal aphasia

description: Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people.


Abnormal circulating IgG level

description: An abnormal deviation from normal levels of IgG immunoglobulin in blood.


name: Elevated circulating N,N-dimethylglycine concentration

description: An increased concentration of N,N-dimethylglycine in the circulation.


Painful defecation

description: An unpleasant sensation characterized by physical discomfort that occurs when passing stool.


B lymphocytopenia

description: An abnormal decrease from the normal count of B cells.


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

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


Increased CSF citrulline concentration

description: Abnormally increased levels of citrulline in cerebrospinal fluid.


name: Absent spinous processes of lower thoracic and lumbar vertebrae


name: Abnormality of cartilage of external ear

description: An abnormality of a cartilage of external ear.


Ectopic ovary

description: Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels.


name: isolated anterior cervical hypertrichosis

description: Anterior cervical hypertrichosis is a rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood.


name: Increased amyloid beta 42 peptide CSF concentration

description: An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).


Absent fifth fingernail

description: Absence of nail of little finger.


Elevated CSF ammonia concentration

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


name: Coronary cameral fistula to right ventricle

description: An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle.


Renal cortical atrophy

description: Atrophy of the cortex of the kidney.


Aplasia of the semicircular canal

description: Absence of the semicircular canal.


Short 2nd metacarpal

description: Short second metacarpal bone because of developmental hypoplasia.


Premature anterior fontanel closure

description: Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.


Klazomania

description: Involuntary attacks of compulsive paroxysmal shouting. The shouting behaviors may be extremely loud and not related to the ongoing mental state of the affected individual. Shouting episodes may occur in bouts and last for several hours.


name: Abnormality of the fourth metatarsal bone


Prominent calcaneus

description: Protruding heel bone, or calcaneus.


Cleft lower lip

description: A gap in the lower lip.


Abnormality of temperature regulation

description: An abnormality of temperature homeostasis.


Abnormal homeostasis

description: An anomaly in the processes involved in the maintenance of an internal equilibrium.


Abnormal olfactory lobe morphology

description: A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell.


Fractured manual digit 1 phalanx

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


Hyperprostaglandinuria

description: An increased concentration of prostaglandin in the urine.


Helicobacter pylori infection

description: A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach.


Supernumerary metacarpal bones

description: The presence of more than the normal number of metacarpal bones.


name: Hypoplasia of the vestibule of the inner ear

description: Underdevelopment of the vestibule of the inner ear.


Fetal scalp mass

description: An abnormal growth (lump) of tissue that projects from the fetal scalp.


name: Irregularly shaped keratohyaline granules

description: Abnormal shape of keratohyaline granules in dermal keratinocytes.


Hypersarcosinuria

description: An elevated urinary concentration of sarcosine.


Prolonged bleeding after surgery

description: Bleeding that persists longer than the normal time following a surgical procedure.


Anti-mGluR5 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5).


Vertical clivus

description: An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum).


Tibial pseudarthrosis

description: Pseudarthrosis, or "false joint" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life.


Keratocystic odontogenic tumor

description: An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence.


Abnormal urine osmolality

description: A deviation from the normal range of concentration of particles in urine.


Interlobular vein medial hypertrophy

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


Partial agenesis of the corpus callosum

description: A partial failure of the development of the corpus callosum.


Oral erythroplakia

description: A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed.


Widened cerebellar subarachnoid space

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


Increased circulating IgG3 level

description: An abnormally increased concentration of the IgG3 subtype in the blood circulation.


name: Moderately reduced left ventricular ejection fraction

description: A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent.


Nephrogenic rest

description: Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.


name: Decreased proportion of CD3-positive T cells

description: Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells.


Calcified amorphous tumor of the heart

description: A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue.


Aplasia/Hypoplasia of the fibula

description: Absence or underdevelopment of the fibula.


name: Focal sensory seizure with olfactory features

description: Seizures characterized by olfactory phenomena as its first clinical manifestation.


Aplasia of the premaxilla

description: Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla.


name: Abnormal glomerular mesangium morphology

description: An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.


name: Abnormal urine sebacic acid concentration

description: Abnormal concentration of sebacic acid in the urine.


description: Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically.


name: Skin fragility with non-scarring blistering


Elevated myocardial iron load

description: Increased amount of iron in myocardial tissue.


Mesangial immunotactoid deposits

description: Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination.


Nodular mesangiosclerosis

description: Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei.


Hypoammonemia

description: A decreased concentration of ammonia in the blood.


Abnormal urine protein level

description: Any deviation of the concentration of one or more proteins in the urine.


factor XIII, A subunit, deficiency of

description: Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.


primary tethered cord syndrome

description: Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.


Gastric perforation

description: A full-thickness injury of the wall of the stomach.


Antiphospholipid antibody positivity

description: The presence of circulating autoantibodies to phospholipids.


name: Congenital malformation of the left heart

description: Defect or defects of the morphogenesis of the left heart identifiable at birth.


name: Elevated circulating alpha-aminoadipic semialdehyde concentration

description: Increased concentration of alpha-aminoadipic semialdehyde in the blood circulation.


name: Aplasia of the proximal phalanges of the toes


name: Decreased CD25 upregulation upon TCR activation

description: Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR).


renal artery atheroma

description: A atherosclerosis that involves the renal artery.


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


Microdontia

description: Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.


Ejection click

description: A high-pitched sound that occurs at the moment of maximal opening of the aortic or pulmonary valves. They are heard just after the first heart sound. The sounds occur in the presence of a dilated aorta or pulmonary artery or in the presence of a bicuspid or flexible stenotic aortic or pulmonary valve. Ejection clicks may also be called ejection sounds.


Hypoplastic spleen

description: Underdevelopment of the spleen.


name: Bullet-shaped distal phalanx of the 2nd toe

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


Finger flexor weakness

description: Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion.


name: Focal cognitive seizure with expressive dysphasia/aphasia

description: A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation.


Diffuse pancreatic islet hyperplasia

description: Hyperplasia of the islets of Langerhans with a generalized distribution.


Distal lower limb amyotrophy

description: Muscular atrophy of distal leg muscles.


Rectal arteriovenous malformation

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


heart lipoma

description: A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue.


Sclerosis of foot bone

description: An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Metaphyseal striations

description: Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).


Hypoplasia of the vestibular nerve

description: Underdevelopment of the vestibular nerve.


Bronchocentric granulomatosis

description: Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen.


Decreased CSF neopterin level

description: Decreased concentration of neopterin in the cerebrospinal fluid (CSF).


name: Abnormal circulating beta-C-terminal telopeptide concentration

description: A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover.


Anterior beaking of thoracic vertebrae

description: Anterior tongue-like protrusions of thoracic vertebral bodies.


name: Focal impaired awareness motor seizure with dysarthria/anarthria

description: A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure.


Hip contracture

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


Posterior helix pit

description: Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.


name: Anterior predominant subcortical band heterotopia

description: Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes.


name: Decreased circulating GABA concentration

description: A decrease in the level of GABA in the serum.


Testicular adrenal rest tumor

description: Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm.


Increased CSF uracil concentration

description: An increased level of uracil in the cerebrospinal fluid.


name: Impaired thromboxane A2 agonist-induced platelet aggregation

description: Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists.


name: Intimal thickening in the coronary arteries


Atonic seizure

description: Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.


Curved distal phalanx of the 4th finger

description: Curved appearance of the distal phalanx of the 4th (ring) finger.


Decreased facial expression reciprocity

description: Decreased mirroring or reflection of facial expressions in another person during social interactions, compared to the person's normal behavior.


pituitary stalk interruption syndrome

description: Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.


name: Abnormality of the urinary system physiology


Unilateral renal atrophy

description: A unilateral form of atrophy of the kidney.


ovarian teratoma

description: A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian 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. 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.


Fibular metaphyseal irregularity

description: Irregularity of the normally smooth surface of a metaphysis of a fibula.


Increased level of xylitol in urine

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


Biparietal narrowing

description: A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).


name: Elevated circulating long-chain acylcarnitine concentration

description: Concentration of long-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Long-chain acylcarnitines have between thirteen and twenty carbon atoms in the acyl-chain (C13-C20),


Air crescent

description: An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer.


name: Reduced number of intrahepatic bile ducts

description: The presence of reduced numbers of intrahepatic bile duct than normal.


prune belly syndrome

description: Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.