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

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


name: Abnormal circulating gonadotropin concentration

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

description: An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).


name: Abnormal circulating eicosanoid concentration

description: Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid).


Increased anti-drug IgE antibody level

description: Increased level of IgE antibody against a drug or class of drugs, such as antibiotics.


pulmonary valve insufficiency

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

description: Dysfunction of the pulmonary valve characterized by incomplete valve closure.


Extension contracture of finger

description: A type of finger joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together.


Conical incisor

description: An abnormal conical morphology of the incisor tooth.


Abnormal CSF tyrosine concentration

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


Paratracheal lymphadenopathy

description: Enlargement of lymph nodes surrounding the trachea.


Impaired antigen-specific response

description: An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).


Abnormal hair whorl

description: An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair).


Abnormal mandibular ramus morphology

description: An abnormality of a mandibular ramus.


name: Medial calcification of medium-sized arteries

description: Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries.


Episodic abdominal pain

description: An intermittent form of abdominal pain.


Increased CSF leucine concentration

description: Abnormally increased levels of leucine in cerebrospinal fluid.


Abnormal alpha-beta T cell morphology

description: A structuraly anomaly of T cells that express an alpha-beta T cell receptor.


name: Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot

description: An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.


Decreased CSF valine concentration

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


Nezelof syndrome

description: Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.


Agenesis of putamen

description: A developmental defect characterized by the absence of the putamen owing to its failure to develop.


Decreased urinary urate

description: Decreased concentration of urate in the urine.


name: Impaired pathogen-specific CD8 cytoxicity

description: Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors.


Hypodysplasia of the corpus callosum

description: Developmental defect characterized by a small and malformed corpus callosum.


name: Anti-signal recognition particle antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle.


Neonatal multifocal myoclonic seizure

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


Secondary vesicoureteral reflux

description: Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction.


Everted upper lip vermilion

description: Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.


Axonal degeneration/regeneration

description: A pattern of simultaneous degeneration and regeneration of axons (see comment).


Elevated brain choline level by MRS

description: An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).


Abnormal tongue physiology

description: Any functional anomaly of the tongue.


Renal intimal/medial arteriolitis

description: Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural.


Hyperchloriduria

description: An increased concentration of chloride in the urine.


Uric acid crystalluria

description: The presence of uric acid crystals in the urine.


Increased CSF ornithine concentration

description: Abnormally increased levels of ornithine in cerebrospinal fluid.


Trichodiscoma

description: A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.


Ovarian serous cystadenoma

description: A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.


name: Univentricular heart with absent left sided atrioventricular connection


name: Increased circulating mannose-binding protein concentration

description: Concentration of mannose-binding protein in the blood circulation above the upper limit of normal.


name: Abnormal circulating plasminogen activator inhibitor 1 activity

description: The activity or concentration of plasminogen activator inhibitor-1 in the blood circulation is outside of the limits of the normal range.


Reduced bone mineral density

description: A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.


name: Renal arteriole neutrophil endoarterial hypercellularity

description: A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen.


Pustule

description: A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.


Decreased circulating IgD

description: An abnormally decreased level of immunoglobulin D (IgD) in blood.


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

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


name: Impaired stimulus-induced skin wrinkling

description: A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth).


Abnormal upper lip morphology

description: An abnormality of the upper lip.


Double inlet right ventricle

description: The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic.


Spontaneous neonatal pneumothorax

description: Pneumothorax occurring neonatally without traumatic injury to the chest or lung.


right aortic arch

description: An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided.


Anti-nucleoporin 62 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62.


name: Decreased left ventricular end-diastolic volume

description: Abnormally low volume of blood in the left ventricle at the end of diastole (just before systole).


Early onset of sexual maturation

description: An early onset of puberty, in this case early does not refer to precocious.


name: Elevated circulating gamma-aminobutyric acid concentration

description: An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation.


name: Bilateral tonic-clonic seizure with generalized onset

description: A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.


name: Focal aware autonomic seizure with urge to urinate/defecate

description: A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure.


Abnormal motivation

description: Behavioral patterns and/or energy/activity levels that are statistically uncommon within a particular culture, maladaptive, and result in personal distress and impairment in the individual's functioning.


Abnormal corpus striatum morphology

description: Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.


Hypoesthesia

description: Decreased ability to perceive touch.


Plantar telangiectasia

description: Telangiectases (small dilated blood vessels) located on the skin of sole of foot.


Focal cortical dysplasia

description: A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.


Humeral exostoses

description: Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.


Tonic status epilepticus

description: Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal.


name: Monoclonal light chain cardiac amyloidosis

description: A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry.


Abnormal cervical spine morphology

description: Any morphological abnormality of the cervical vertebral column.


Open mouth

description: A facial appearance characterized by a permanently or nearly permanently opened mouth.


name: Status epilepticus with prominent motor symptoms

description: Status epilepticus with prominent motor signs during the prolonged seizure.


Mandibular aplasia

description: Absence of the mandible.


name: Recurrent viral upper respiratory tract infections

description: An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis).


name: Stippling of the epiphyses of the 4th toe

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe.


Absent isohemagglutinin level

description: Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).


Thoracic kyphosis

description: Over curvature of the thoracic region, leading to a round back or if sever to a hump.


name: Osteolytic defects of the distal phalanx of the hallux


Hypoperistalsis

description: Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.


Fallopian tube cyst

description: A fluid filled sac located in the Fallopian tube.


Uvular swelling

description: Abnormal enlargement of the uvula related to an abnormal accumulation of fluid.


Focal seizure with eyelid myoclonia

description: Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures.


EEG with temporal focal spikes

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


name: Criss-cross atrioventricular valves with superior-inferior ventricles

description: Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side.


name: Superior-inferior ventricles without criss-cross atrioventricular valves


Lipomeningocele

description: A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life.


Euphoria

description: Euphoria is a feeling of intense joy, happiness, excitement, or elation that surpasses what would typically be anticipated in a given situation.


name: Abnormality of the dorsal column of the spinal cord

description: An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus.


Penoscrotal hypospadias

description: A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.


name: Partial absence of specific antibody response to hepatitis B vaccine

description: A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination.


EEG with focal sharp waves

description: EEG with focal sharp transient waves of a duration between 80 and 200 msec.


Abnormality of glycoside metabolism

description: Abnormality of glycoside metabolism.


Fatigable weakness

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


Head tremor

description: An unintentional, oscillating to-and-fro muscle movement affecting head movement.


name: Decreased circulating ceruloplasmin concentration

description: Decreased concentration of ceruloplasmin in the blood.


Short upper lip

description: Decreased width of the upper lip.


Prolonged reptilase time

description: An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds.


name: Cortical peritubular capillary intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney.


Anti-HLA-A IgG1 antibody positivity

description: The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A).


Abnormal umbilical stump bleeding

description: Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.


Delayed ability to sit

description: A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.


Abnormality of fibrinolysis

description: Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)


Unilateral wrist flexion contracture

description: A chronic loss of wrist joint motion on one side only.


Progressive microcephaly

description: Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.


Chronic lymphocytic meningitis

description: Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF).


name: Elevated circulating erythropoietin concentration

description: Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.


Abnormality of the inner ear

description: An abnormality of the inner ear.


name: Reduced plasminogen activator inhibitor 1 antigen

description: Reduced level of plasminogen activator inhibitor 1 antigen.


Socially inappropriate questioning

description: A tendency to ask questions that are overly personal or otherwise inappropriate in the social situation in which they are asked.


Tongue telangiectasia

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


name: Elevated circulating thrombopoietin concentration

description: Concentration of thrombopoietin in the blood circulation above the upper limit of normal. Thrombopoietin is a glycoprotein hormone produced by the liver and kidney that stimulates the production and differentiation of megakaryocytes.


2-5 finger cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.


Shark teeth

description: Eruption of permanent teeth behind deciduous (baby) teeth before they have fallen out, resulting in a double row of teeth. This phenomen is typically observed between the ages of 5 to 7 years.


Enlarged uterus

description: An increase in the overall dimensions or volume of the uterus compared to normal.


Short nail

description: Decreased length of nail.


name: Ductus venosus agenesis with extrahepatic drainage and liver bypass

description: A form of ductus venosus agenesis in which umbilical vein does not connect to the portal venous system. The liver is bypassed and the umbilical vein drains into a systemic vein such as the inferior vena cava. This variant has been reported to have an unfavorable prognosis due to a presumed association with congestive heart failure and hydrops.


Unicornuate uterus

description: A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn.


Mesangial hypercellularity

description: Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain.


bronchial neoplasm

description: Tumors or cancer of the bronchi.


Hyperplastic colonic polyposis

description: Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation.


Cloudy urine

description: The appearance of the urine having visible material in suspension, i.e., appearing cloudy.


Absent left main coronary artery

description: The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava.


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

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


Palmoplantar cutis laxa

description: Loose, wrinkled skin of hands and feet.


Waxy casts

description: A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts.


Kinked brainstem

description: A kinked appearance of the brainstem, i.e., an exaggerated flexure.


name: Diffusely thickened glomerular basement membrane

description: Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.


Abnormal amygdala morphology

description: A structural anomaly of the amygdala.


aneurysmal bone cyst

description: A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage.


Facial neoplasm

description: A tumor (abnormal growth of tissue) of the face.


Cerebellar vermis hypoplasia

description: Underdevelopment of the vermis of cerebellum.


Submucous cleft soft palate

description: A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue.


Cutaneous wound

description: A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occurs owing to an injury of the skin. Wound healing is a dynamic, interactive process involving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time.


Septate gallbladder

description: Septate gallbladder is characterized by the presence of a septum that divides the gallbladder in two chambers. When the septum dividing the gallbladder lies longitudinally it is called bilobed gallbladder and when there is a transverse septum separating the fundus from the rest of the gallbladder it is called an hour-glass gallbladder.


name: Confluent hypointensity of cerebral white matter on MRI


name: Ivory epiphysis of the distal phalanx of the 2nd finger

description: Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Patchy sclerosis of 4th finger phalanx

description: Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger.


enthesitis

description: Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone.


Cortical sclerosis

description: Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.


description: Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body.


Fractured rib

description: A partial or complete breakage of the rib.


Abnormality of skull size

description: Any abnormality of the size of the skull.


name: Abnormality of the brachial nerve plexus

description: Any abnormality of the brachial nerve plexus.


Spinal hypomyelination

description: Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis.


Abnormality of the anus

description: Abnormality of the anal canal.


name: Stippling of the epiphysis of the proximal phalanx of the hallux

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux.


Abnormal cartilage morphology

description: Any morphological abnormality of cartilage.


Hamartomatous stomach polyps

description: Polyp-like protrusions which are histologically hamartomas located in the stomach.


Hypervigilance

description: A heightened alertness is characterized by a broad awareness and/or excessive scanning of environmental stimuli.


Venous occlusion

description: Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein.


Podocyte foot process effacement

description: An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier.


Echogenic intracardiac focus

description: A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart.


Podocyte hypertrophy

description: Increased visceral epithelial cell size, with or without cytoplasmic protein droplets.


Abnormality of acid-base homeostasis

description: An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.


Tubulointerstitial fungal infiltration

description: Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains.


name: Fractured proximal epiphysis of middle phalanx of manual digit 3

description: A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3.


name: Decreased specific antibody response to vaccination

description: A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination.


Distal upper limb amyotrophy

description: Muscular atrophy of distal arm muscles.


Intracranial arterial calcification

description: An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial).


Anti-Tr/DNER antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr.


Moderate albuminuria

description: The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol).


Abnormal thalamic size

description: Deviation from the normal range of size of the thalamus.


Ski jump nail

description: Nails that slope upward at the free edge.


Premature occlusive vascular stenosis

description: Peripheral arterial stenosis with onset before the age of 50 years.


Abnormal ductus choledochus morphology

description: An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder.


Abnormal plantar dermatoglyphics

description: An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot.


Microdontia of primary teeth

description: Decreased size of the primary teeth.


name: Elevated circulating DNAJB9 protein concentration

description: Concentration of DnaJ homolog subfamily B member 9 (DNAJB9) in the blood circulation above the upper limit of normal.


Lip freckle

description: Increased focal pigmentation of the vermilion of the lips.


name: Anti-von Willebrand factor antibody positivity

description: The presence of autoantibodies in the serum that react to von Willebrand factor (VWF).


Abnormal scrotal rugation

description: Anomaly of the folded ridges (wrinkles) of skin of the scrotum.


name: Focal cognitive seizure with auditory agnosia

description: A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing.


Cutaneous macular amyloidosis

description: A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance.


agraphia

description: An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.


Cerebral venous sinus thrombosis

description: An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses.


Anti-GD1b antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.


Hyperxanthinemia

description: An increased level of xanthine in the blood circulation.


Biliary epithelial hyperplasia

description: Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen.


Intralobar nephroblastomatosis

description: Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it).


name: Febrile seizure outside the age of 3 months to 6 years

description: Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure.


Abnormal glucose homeostasis

description: Abnormality of glucose homeostasis.


Delayed onset bleeding

description: Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours.


Abnormal circulating estrogen level

description: A deviation from normal concentration of the hormone estrogen in the blood circulation.


Lingual dystonia

description: Involuntary protrusions, movements, spams and contortions of the tongue.


name: Blunted aldosterone response to aldosterone suppression test

description: A non-suppressible aldosterone excess, defined as an abnormal result of one of any four suppression tests. These tests use oral sodium loading, oral fludrocortisone, oral captopril, or saline infusion to suppress aldosterone secretion.


Basal ganglia edema

description: Swelling within the basal ganglia due to the accumulation of fluid.


Abnormal hindbrain morphology

description: An abnormality of the hindbrain, also known as the rhombencephalon.


Abnormal lower lip morphology

description: An abnormality of the lower lip.


Abnormality of the sense of smell

description: An anomaly in the ability to perceive and distinguish scents (odors).


Fractured fused sacrum

description: A partial or complete breakage of the fused sacrum.


Subclavian artery stenosis

description: Abnormal narrowing of the subclavian artery.


name: High renal tubular epithelial cell N/C ratio

description: At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei.


Disseminated cutaneous warts

description: Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.


Elevated cancer Ag 19-9 level

description: An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation.


Gingival cleft

description: A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla.


Hypoplasia of the maxilla

description: Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.


Abnormal CSF aspartate concentration

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


Renal necrosis

description: Cell death (necrosis) affecting one or more parts of the kidney.


Reduced radioactive iodine uptake

description: A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.


Chronic (near) absent circulating IgG4

description: A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured.


alopecia totalis

description: Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.


Absent pigmentation of chest

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


Fetal anemia

description: Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery.


Biceps hyporeflexia

description: Reduced intensity of the biceps tendon reflex.


Non-pitting edema

description: Non-pitting edema occurs when excess fluid builds up in the body causing swelling that does not indent when pressure is applied. It usually occurs in the limbs, and often results from underlying medical conditions affecting lymphatic system function.


name: Decreased circulating membrane cofactor protein concentration

description: Concentration of membrane cofactor protein in the blood circulation below the lower limit of normal.


Focal bilateral motor seizure

description: A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset.


Arthralgia of the hip

description: Joint pain affecting the hip.


Arcuate artery intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney.


Focal aware tonic seizure

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


name: Apical hypertrabeculation of the left ventricle

description: An increased number and density of the trabeculae in the apex (tip) of the left ventricle.


Neoplasm of fatty tissue

description: A tumor (abnormal growth of tissue) of adipose tissue.


neurogenic arthropathy

description: Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)


Basal ganglia calcification

description: The presence of calcium deposition affecting one or more structures of the basal ganglia.


Adrenal gland dysgenesis

description: Abnormal development of the adrenal gland.


Sclerosis of middle toe phalanx

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


Limb joint contracture

description: A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.


name: Cortical radial artery leukocyte hypercellularity

description: A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).


name: Buried teeth encased in mucopolysaccharide


Bilateral superior vena cava

description: The presence of a left and a right superior vena cava.


name: Absent sperm axoneme central pair complex

description: Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern.


Minifascicle formation

description: A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle.


name: Abnormal circulating phytanic acid concentration

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


name: Chronic partially decreased circulating IgG4

description: A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood.


Increased fetal movement

description: An abnormal increase in quantity or strength of fetal movements.


Severe muscular hypotonia

description: A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.


Paradoxical myotonia

description: A type of myotonia that worsens with repeated muscle contractions.


Poliosis

description: Circumscribed depigmentation of the hair of the head or the eyelashes.


Fractured mandible

description: A partial or complete breakage of the mandible.


Increased circulating osteocalcin level

description: An elevated level of osteocalcin in the blood.


Excessive checking

description: Checking behavior that is excessive for the situational context.


Incisor macrodontia

description: Increased size of the incisor tooth.


name: Decreased amplitude of sensory action potentials

description: A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies.


name: Reduced left ventricular ejection fraction

description: A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.


name: Abnormal circulating ceruloplasmin concentration

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


Dolichocephaly

description: An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.


Ectopic anterior pituitary gland

description: Abnormal anatomic location of the anterior pituitary gland.


name: Increased urinary high-mannose-type oligosaccharide

description: An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine.


name: Infantile sensorineural hearing impairment

description: A form of sensorineural hearing impairment with infantile onset.


Cervical cord compression

description: Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.


B Acute Lymphoblastic Leukemia

description: A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.


name: Activating thyroid-stimulating hormone receptor defect

description: Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect.


name: Anti-thrombospondin type I domain-containing 7A antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thrombospondin type I domain-containing 7A.


name: Elevated circulating acetoacetic acid concentration

description: An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies.


name: Decreased CSF metanephrine concentration

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


name: Lymphocytic infiltration of the parotid gland

description: Accumulation of lymphocytes in the parotid gland. This feature is generally defined as a count of lymphocytes per area that is above normal limits on histopathological examination.


Juvenile gastrointestinal polyposis

description: The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps.


Vestibular sensory seeking

description: Pursuit of vestibular stimulation that is abnormal in intensity and/or frequency.


name: Abnormal gonadotropin-releasing hormone concentration

description: A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH).


Unlayered lissencephaly

description: A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and gray matter.


Giant cell hepatitis

description: Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver.


Salivary basal cell adenoma

description: A rare neoplasm consisting of a monomorphic population of basaloid epithelial cells, and it accounts for approximately 1-2% of all salivary gland tumors.


Mild intrauterine growth retardation

description: Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age.


name: Abnormal nervous system electrophysiology

description: An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.


Difficulty walking backward

description: Reduced ability to walk (ambulate) in a backwards direction.


Grandiose delusion

description: False beliefs relating to origin (aristocratic lineage, royal birth, being raised as a foster child), possessions (owning vast estates, castles, etc., which are withheld through intrigue), abilities (being great inventors, discoverers, artists, possessors of special wisdom, gifted with inspiration), and status (adviser to prominent diplomats, the true director of political destinies).


name: Reduced circulating leukotriene C4 concentration

description: An abnormally decreased concentration of leukotriene C4 in the blood circulation.


Tracheobronchomalacia

description: Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.


Hydropic placenta

description: An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement.


Postductal coarctation of the aorta

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


name: Elevated circulating butyrylcarnitine concentration

description: Concentration of O-butyrylcarnitine in the blood circulation above the upper limit of normal.


Abnormal cardiac MRI

description: Abnormal results of a MRI for the heart.


Perioral eczema

description: A type of eczema that occurs in the lips and perioral area.


Positive Romberg sign

description: The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.


Abnormal bulbus cordis morphology

description: Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis.


Infection-associated lymphopenia

description: Decreased lymphocyte count during infections.


Severe albuminuria

description: The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol).


name: Elevated CSF glial fibrillary acidic protein concentration

description: Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid.


Striae distensae

description: Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.


Sclerosis of 5th finger phalanx

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


Placenta increta

description: Abnormal placental pentration into but not beyond the uterine wall.


Blistering by anatomical location

description: Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur.


name: Abnormality of the epiphysis of the femoral head

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


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


Hypolysinemia

description: A decreased amount of lysine in the blood.


Giant melanosomes in melanocytes

description: The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.


name: Increased neuronal autofluorescent lipopigment

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


name: Hypointensity of cerebral white matter on MRI

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


Focal lissencephaly

description: A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex.


Abnormal cerebellar peduncle morphology

description: An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum.


Incomplete unilateral cleft lip

description: Unilateral cleft lip cleft that starts from the bottom of the upper lip but does not reach the nasal cavity.


Hostility

description: Persistent or frequent feelings of anger; anger or irritability in response to minor slights and insults.


Persistent patent ductus venosus

description: Persistence of blood flow through the ductus venosus for longer than the normal time after birth.


Shawl scrotum

description: Superior margin of the scrotum superior to the base of the penis.


name: Elevated circulating 3-methylhistidine concentration

description: Abnormal increase of the concentration of 3-methylhistidine in the blood circulation.


Elevated urinary sulfatide level

description: The amount of sulfatides in the urine, normalized for urine concentration, is above the upper limit of normal. Sulfatides are derived from GalCer via esterification of a sulfate group to 3-hydroxyl of the galactose moiety.


Parakeratosis

description: Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.


Ivory epiphyses of the 5th finger

description: Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


name: Anti-Su antigen/argonaute 2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Su antigen/argonaute 2.


Positive perchlorate discharge test

description: An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficient time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid.


name: Abnormal platelet dense granule secretion

description: Abnormal release of dense granules from platelets.


Spinal meningeal diverticulum

description: An outpouching of the spinal meninges.


name: Anti-Kelch like protein 12 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12.


Pancreatic atrophy

description: Wasting (shrinking) of the pancreas.


Abnormality of the female genitalia

description: Abnormality of the female genital system.


Chronic colitis

description: A chronic inflammatory disease of the large intestine (colon, cecum and rectum).


Hypoglutamatemia

description: A decreased amount of glutamate in the blood.


Cutaneous abscess

description: A circumscribed area of pus or necrotic debris in the skin.


name: Abnormal circulating free T4 concentration

description: A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects.


Mesangial cell loss

description: Loss of mesangial cells segmentally or globally.


Subcortical dementia

description: A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change.


Single-lobed right lung

description: A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes.


name: Patchy reduction of bone mineral density

description: Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.


Perineal hypospadias

description: Hypospadias with location of the urethral meatus in the perineal region.


Abnormal blood glucose concentration

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


Red urine

description: An abnormal red color of the urine.


Abnormal CSF dopamine concentration

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


External genital hypoplasia

description: Underdevelopment of part or all of the external reproductive organs.


Coronary arteriovenous fistula

description: An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation.


Increased hemoglobin oxygen affinity

description: An abnormal increase in the binding affinity of hemoglobin for oxygen.


Glomerular lipoprotein thrombus

description: Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections.


Decreased urinary bile acid level

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


Thin fingernail

description: Fingernail that appears thin when viewed on end.


Decreased urinary 1-methylhistidine

description: Decreased concentration of 1-methylhistidine in the urine.


name: Abnormal glomerular basement membrane texture

description: Anomalous appearance or structure of the surface of the glomerular basement membrane.


Overriding atrioventricular valve

description: An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect.


Soft, doughy skin

description: A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.


Open operculum

description: Underdevelopment of the operculum.


description: The presence of autoantibodies in the serum that react to RNA-polymerase III.


name: Increased proportion of CD4-positive T cells

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


name: Contracture of the proximal interphalangeal joint of the 4th finger

description: Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.


Tissue ischemia

description: Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion.


description: A type of ichthyosiform erythroderma with postnatal onset.


name: Increased circulating octadecanoate level

description: An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid).


Ureteral agenesis

description: Failure of the ureter to undergo development.


Abnormal musculoskeletal physiology

description: An abnormality of the function of the skeletal system.


Mild global developmental delay

description: A mild delay in the achievement of motor or mental milestones in the domains of development of a child.


name: Focal motor seizure with negative myoclonus

description: A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure.


posterior urethral valve

description: Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO) and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.


Late-onset proximal muscle weakness

description: Lack of strength of the proximal musculature occurring late in the clinical course.


name: Abnormal circulating isoleucine concentration

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


Focal pancreatic islet hyperplasia

description: Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others.


name: Decreased circulating methylcobalamin concentration

description: The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12.


Abnormal total iron binding capacity

description: Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added.


name: Recurrent loss of toenails and fingernails

description: Repeated loss, or shedding, of the nails of the fingers and toes.


Renal neurofibroma

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


Abnormal rectum morphology

description: An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.


Irregularly spaced teeth

description: Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth.


Upper limb pain

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


Elevated urinary catecholamine level

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


Rectal duplication

description: A developmental anomaly characterized by an additional rectum that is typically lined with intestinal mucosa with one or more cell types of the gastrointestinal tract overlying submucosa and smooth muscle layer.


name: Interlobular vein intima/media amyloidosis

description: Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy


name: Anti-complement component C1q antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q.


Porphyrinuria

description: Abnormally increased excretion of porphyrins in the urine.


name: Amplification of interpersonal communication

description: An increase in the tendency of a person to share information or emotions compared to that person's previous norms.


name: Focal aware motor seizure with negative myoclonus

description: A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure.


Abnormal circulating iron concentration

description: The concentration of iron in the blood circulation is outside the limits of normal.


Abnormal hepatic echogenicity

description: Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen).


Functional abnormality of the bladder

description: Dysfunction of the urinary bladder.


name: Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection


EMG: myotonic runs

description: Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).


name: Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT

description: A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases.


Abnormal hepatocyte morphology

description: A structural anomaly of the hepatocyte, which is the main cell type that makes up the liver perncyhma. Hepatocytes are usually binucleated and appear as sheets in the liver tissue.


Colonic varices

description: The presence of varices (enlarged and convoluted blood vessels) in the colon.


Indeterminate ventricular axis

description: A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection.


Black pigment gallstones

description: A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates.


Abnormality of complement system

description: An abnormality of the complement system.


Adrenal hyperplasia

description: Enlargement of the adrenal gland.


Drug-induced anaphylaxis

description: A form of anaphylaxis that is triggered by intake of drugs or medications.


Proximal upper limb amyotrophy

description: Muscular atrophy affecting proximally located muscles of the arms.


Perihilar segmental glomerulosclerosis

description: Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule.


Hypocapnia in cord blood

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


Abnormal B cell morphology

description: A structural abnormality of B cells.


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


name: Fractured epiphysis of fourth metacarpal bone

description: A partial or complete breakage of the epiphysis of fourth metacarpal bone.


camptodactyly of fingers

description: Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.


Seminal vesicle hypoplasia

description: A congenital anomaly characterized by underdevelopment of one or both seminal vesicles, which are the two small glands that store and produce the majority of the fluid that makes up semen.


name: Multiple pulmonary interstitial hyalinized nodules

description: Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin.


Glomerular karyhorrhectic debris

description: Apoptotic, pyknotic, and fragmented nuclei within the glomerulus.


Noncompaction cardiomyopathy

description: A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber.


Tubularization of Bowman capsule

description: The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus.


Serous pericardial effusion

description: Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac.


Abnormal palmar dermatoglyphics

description: An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.


name: Prolonged bleeding following circumcision

description: Bleeding that persists for a longer than usual time following circumcision.


name: Decreased urine guanidinoacetic acid level

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


name: Decreased attenuation pattern on pulmonary HRCT

description: Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography.


name: Increased proteinogenic amino acid level in urine

description: An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.


Erythematous papule

description: A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.


Abnormal systemic arterial morphology

description: An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.


name: Abnormal ventricular myocardium morphology

description: A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle.


Abnormal parotid gland morphology

description: Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear.


Fractured middle phalanx of manus

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


Thumb contracture

description: Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the thumb joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected.


decubitus ulcer

description: Death of tissue due to external pressure.


name: Fibrotic non-specific interstitial pneumonia

description: A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation.


Boot-shaped cardiac silhouette

description: An abnormal form of the heart seen upon chest radiography in which the heart displays an upturned apex and slight concave pulmonary artery segment. This configuration is said to resemble a boot.


Congenital contracture

description: One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.


name: Elevated circulating L-alloisoleucine concentration

description: Abnormally increased concentration of L-alloisoleucine in the blood circulation.


name: Osteolytic defects of the proximal phalanx of the 5th finger

description: Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger.


Abnormality of the tarsal bones

description: An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.


Small superior frontal cortex

description: Reduced size of the superior frontal portion of the cerebral cortex.


Abnormal diaphysis morphology

description: An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.


Intestinal fistula

description: An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract.


Podocyte microvillous transformation

description: Cytoplasmic projections into the urinary space from the luminal side of the podocyte.


Reduced CSF methionine concentration

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


Frontal cortical atrophy

description: Atrophy of the frontal cortex.


Apocrine hidrocystoma

description: A cystic lesions that forms a benign tumor of an apocrine sweat gland.


name: Anomalous hepatic venous drainage into the left atrium

description: An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium.


name: Elevated urinary ureidoisobutyric acid level

description: The amount of ureidoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. Ureidoisobutyric acid is increased in the urine of patients with beta-ureidopropionase (EC 3.5.1.6) deficiency.


Storage in hepatocytes

description: Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.


Infra-aortic superior vena cava

description: The superior vena cava passes below the aortic arch.


name: Oligoclonal elevation of circulating IgA

description: An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.


Abnormality of adrenal physiology

description: A functional abnormality of the adrenal glands.


Low plasma citrulline

description: A decreased concentration of citrulline in the blood.


Recurrent bronchitis

description: An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.


name: Elevated circulating insulin:C-peptide ratio

description: Increased ratio of insulin to C-peptide in the blood circulation.


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

description: Complete duplication of the distal phalanx of ring finger.


Aortic stiffness

description: The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension.


Focal undressing automatism seizure

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


Abnormal CSF methionine concentration

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


name: Congenital malformation of the right heart

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


Generalized microdontia

description: A generalized form of microdontia.


Interrupted aortic arch type B

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


Agenesis of maxillary premolar

description: Agenesis of maxillary premolar.


Multiple lentigines

description: Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.


Forearm

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


Neurite dystrophy

description: Dystrophic neurites are abnormal neuronal processes characterized microscopically by aberrant sprouting, dystrophic expansion, and accumulation of various cellular organelles and cytoskeletal/signaling proteins.


Secondary Caesarian section

description: Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth.


Oral synechia

description: Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.


name: Supraventricular tachycardia with an accessory connection mediated pathway

description: Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism.


Fulminant hepatitis

description: Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice.


Digital ischemia

description: Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis.


Feculent vomiting

description: Vomiting of material that is of fecal origin.


name: Stage IIIA Gestational Trophoblastic Tumor AJCC v7

description: Stage IIIA includes: Any T, M1a, Risk factors: low risk.  M1a: Lung metastasis.  (AJCC 7th ed.)


Transient neonatal pustulosis

description: A benign, self-limited eruption of vesicles, pustules and macules seen in newborns. The fluid-filled lesions typically rupture and resolve within 48 hours while the macular lesions may persist for months.


permanent congenital hypothyroidism

description: Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth.


peripheral hypothyroidism

description: Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism.


name: peripheral resistance to thyroid hormones

description: Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.


congenital nongoitrous hypothyroidism 3

description: A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1.


Factor XIII Inactivation

description: Presence of inactivating antibodies to factor XIII in the blood.


acquired factor XIII deficiency

description: An acquired coagulation disorder due to reduced levels and activity of factor XIII.


spinal intradural arachnoid cysts

description: Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery.


intracranial arachoid cyst

description: A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid.


name: Ductal Eccrine Carcinoma with Abundant Fibromyxoid Stroma

description: A variant of ductal eccrine carcinoma with abundant fibromyxoid stroma.


distal trisomy 9q

description: Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.


Childhood Ovarian Mixed Germ Cell Tumor

description: A mixed germ cell tumor that arises from the ovary and occurs in children.


ovarian mixed germ cell neoplasm

description: An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor.


name: atrioventricular septal defect, susceptibility to, 1


name: Metastatic malignant neoplasm to pituitary gland

description: A malignant neoplasm metastasizing to the pituitary gland from another anatomic site.  The vast majority are carcinomas usually arising from the breast, lung, and gastrointestinal tract.


name: Metastatic Malignant Neoplasm in the Sellar Region

description: A malignant neoplasm that has metastasized to the sellar region from another anatomic site.


name: Stage IC Fallopian Tube Cancer AJCC v6 and v7

description: Stage IC includes: T1c, N0, M0.  T1c: Tumor limited to one or both tubes with extension onto or through the tubal serosa, or with malignant cells in ascites or peritoneal washings.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 6th and 7th eds.)


sennetsu fever

description: A disease caused by infection with Neorickettsia sennetsu.


Anaplasmataceae infectious disease

description: Infections with bacteria of the family anaplasmataceae.


human monocytic ehrlichiosis

description: A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages.


anaplasmosis

description: A disease or disorder caused by infection with Anaplasma.


human granulocytic ehrlichiosis

description: A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex.


Neorickettsia infectious disease

description: A disease caused by infection with Neorickettsia.


ehrlichiosis

description: An disease or disorder caused by infection with Ehrlichia.


Lacrimal Gland Cyst

description: Swelling of the lacrimal duct due to excess fluid.


pyoureter

description: An abscess that is located in the ureter.


name: Refractory Fallopian Tube Clear Cell Adenocarcinoma

description: Fallopian tube clear cell adenocarcinoma that is resistant to treatment.


ovarian solid teratoma

description: A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present.


familial temporal lobe epilepsy 4

description: A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22.


Cyanotic Body

description: Blue- or purplish-colored body; this is caused by excessive amounts of deoxygenated hemoglobin in the skin vessels of the body.


Neonatal acrocyanosis

description: Transient cyanotic discoloration of the hands and feet, especially fingers and toes, in a newborn.


Cyanotic Limbs

description: Blue- or purplish-colored limbs; this is caused by excessive amounts of deoxygenated hemoglobin in the skin vessels of the limbs.


Locally Advanced Endometrial Carcinoma

description: Endometrial carcinoma that has spread to nearby tissues or lymph nodes.


name: Locally Advanced Endometrial Adenocarcinoma

description: Endometrial adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


name: Locally Advanced Unresectable Endometrial Carcinoma

description: Endometrial carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Locally Advanced Endometrial Endometrioid Adenocarcinoma

description: Endometrial endometrioid adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Stage IVB Thymoma AJCC v8

description: Stage IVB includes: (Any T, N2, M0, M1a); (Any T, Any N, M1b). N2: Metastasis in deep intrathoracic or cervical lymph nodes. M0: No distant metastasis. M1a: Separate pleural or pericardial nodule(s). M1b: Pulmonary intraparenchymal nodule or distant organ metastasis. (AJCC 8th ed.)


name: Stage IVB Thymic Epithelial Neoplasm AJCC v8


pediatric cerebral ependymoblastoma

description: An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children.


name: childhood cerebellar astrocytic neoplasm

description: Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood.


name: supratentorial ependymoma, ZFTA fusion–positive

description: A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene.


childhood brainstem astrocytoma

description: An astrocytoma that arises from the brain stem and occurs during childhood.


proneural glioblastoma

description: A molecular subtype of glioblastoma that is associated with younger age at presentation and is characterized by p53 mutations and PDGFRa amplifications.


name: pineal parenchymal tumor of intermediate differentiation

description: A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)


desmoplastic infantile astrocytoma

description: A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)


IDH-mutant anaplastic astrocytoma

description: An anaplastic astrocytoma carrying IDH mutations.


melanotic neuroectodermal tumor

description: A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course.


desmoplastic infantile ganglioglioma

description: A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)


extraventricular neurocytoma

description: Extraventricular neurocytoma (EVN), a variant of central neurocytoma, is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior.


papillary glioneuronal tumor

description: A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present.


name: melanotic psammomatous malignant peripheral nerve sheath tumor

description: A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies.


tanycytic ependymoma

description: A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.)


cerebral neuroblastoma

description: A neuroblastoma arising from the cerebral hemispheres.


name: childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered

description: A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children.


name: spinal cord primitive neuroectodermal tumor

description: A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord.


brain stem astrocytic neoplasm

description: An astrocytoma that arises from the brain stem.


mediastinal schwannoma

description: A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative.


benign glioma

description: A form of glioma without malignant characteristics.


adrenal gland ganglioneuroblastoma

description: A ganglioneuroblastoma arising from the adrenal gland.


pineal gland astrocytoma

description: A astrocytoma that involves the pineal body.


posterior fossa group A ependymoma

description: A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression.


gangliocytoma

description: A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells.


trigeminal schwannoma

description: A schwannoma that involves the trigeminal nerve.


childhood ependymoma

description: An ependymoma that arises from the central nervous system and occurs during childhood.


gliomatosis cerebri

description: A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.)


Pacinian tumor

description: A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles.


adult anaplastic ependymoma

description: An anaplastic ependymoma occurring in adults.


optic tract astrocytoma

description: An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.


neurothekeoma

description: A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma.


name: peripheral primitive neuroectodermal tumor of bone

description: A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain.


name: primitive neuroectodermal tumor of the corpus uteri

description: A primitive neuroectodermal tumor that involves the body of uterus.


extracranial neuroblastoma

description: A neuroblastoma arising from an anatomic site other than the brain.


spinal cord neuroblastoma

description: A neuroblastoma that affects the spinal cord.


spinal ependymoma, MYCN-amplified

description: A spinal cord ependymoma that is characterized by MYCN amplification.


name: neurofibromatosis, type III, mixed central and peripheral


mesenchymal glioblastoma

description: A molecular subtype of glioblastoma characterized by the presence of NF1 mutations.


name: malignant cardiac peripheral nerve sheath neoplasm

description: A very rare malignant peripheral nerve sheath tumor that arises from the heart.


ependymal tumor

description: A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO)


adult brainstem astrocytoma

description: An astrocytoma of the brain stem that occurs during adulthood.


IDH-wildtype anaplastic astrocytoma

description: An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes.


schwannoma of twelfth cranial nerve

description: A schwannoma that involves the hypoglossal nerve.


astrocytoma, IDH-mutant, grade 4

description: An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas.


adult pineal parenchymal tumor

description: A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults.


spinal cord oligodendroglioma

description: A oligodendroglioma that involves the spinal cord.


optic nerve astrocytoma

description: A astrocytoma (excluding glioblastoma) that involves the cranial nerve II.


posterior fossa group B ependymoma

description: A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression.


differentiating neuroblastoma

description: A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells.


adult brainstem gliosarcoma

description: A gliosarcoma of the brain stem that occurs during adulthood.


malignant triton tumor

description: Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation.


childhood optic nerve glioma

description: A glioma affecting the optic tract and occurring in childhood.


peripheral nerve schwannoma

description: A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported.


low grade glioma

description: A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma.


name: stroma-dominant and stroma-poor composite ganglioneuroblastoma

description: A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume.


grade II glioma

description: A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma.


optic pathway glioma

description: Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1).


name: diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

description: A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations.


clear cell ependymoma

description: An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo.


name: high-grade astrocytoma with piloid features

description: An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa.


name: pleomorphic xanthoastrocytoma BRAF mutant

description: An anaplastic pleomorphic xanthoastrocytoma that has material basis in BRAF mutations.


name: childhood central nervous system primitive neuroectodermal neoplasm

description: A central nervous system embryonal tumor, not otherwise specified that occurs in childhood.


gliofibroma

description: An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma).


atypical neurofibroma

description: A neurofibroma characterized by the presence of cellular pleomorphism.


name: supratentorial ependymoma, YAP1 fusion–positive

description: A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene.


name: peripheral primitive neuroectodermal tumor of soft tissues

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


name: schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma

description: A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which constitutes more than fifty-percent of the tumor volume.


peripheral ganglioneuroblastoma

description: A ganglioneuroblastoma arising from the peripheral nervous system.


chordoid glioma of the third ventricle

description: A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates.


name: malignant melanocytic peripheral nerve sheath tumor of mediastinum

description: A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin.


childhood astrocytic tumor

description: An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location.


name: malignant cutaneous granular cell skin tumor

description: A malignant granular cell tumor that arises from the skin.


neural glioblastoma

description: A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5.


name: diffuse astrocytoma, MYB- or MYBL1-altered

description: A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1.


granular cell leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes.


name: benign mediastinal psammomatous neurilemmoma

description: A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies.


ependymal tumor of spinal cord

description: An ependymal tumor that arises from the spinal cord.