A type of ichthyosiform erythroderma with postnatal onset.


Increased circulating octadecanoate level

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

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).


Abnormal musculoskeletal physiology

An abnormality of the function of the skeletal system.


isolated cloverleaf skull syndrome

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

Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.


Focal motor seizure with negative myoclonus

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.


Limb undergrowth

Limb shortening because of underdevelopment of one or more bones of the extremities.


posterior urethral valve

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

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


Abnormal circulating isoleucine concentration

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


Focal pancreatic islet hyperplasia

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


Decreased methylcobalamin

Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12.


Abnormal total iron binding capacity

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.


Spastic paraplegia

Spasticity and weakness of the leg and hip muscles.


Recurrent loss of toenails and fingernails

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


Renal neurofibroma

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


Delayed speech and language development

A degree of language development that is significantly below the norm for a child of a specified age.


C1-C2 vertebral abnormality

Any abnormality of the atlas and the axis.


Absent epiphyses of the proximal phalanges of the hand


Abnormal rectum morphology

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

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


Upper limb pain

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


acroosteolysis

A condition that is characterized by degeneration of the distal phalanges.


Bipartite patella

A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood.


Small epiphysis of the distal phalanx of the 2nd finger

Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.


Partial duplication of the proximal phalanx of the 4th toe


Interlobular vein intima/media amyloidosis

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


Anti-complement component C1q antibody positivity

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


Fragmentation of the epiphysis of the proximal phalanx of the 4th finger

Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger.


Focal aware motor seizure with negative myoclonus

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


Abnormal hepatic echogenicity

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).


Curved phalanges of the 5th finger

Curved phalanges of the 5th (little) finger.


Functional abnormality of the bladder

Dysfunction of the urinary bladder.


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


Limited wrist movement

An abnormal limitation of the mobility of the wrist.


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

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

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

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


Hypoplastic pubic ramus

Underdevelopment of a ramus (branch) of the pubic bone.


Indeterminate ventricular axis

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.


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


Black pigment gallstones

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


Short distal phalanx of finger

Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.


Bowing of the arm

A bending or abnormal curvature affecting a long bone of the arm.


Adrenal hyperplasia

Enlargement of the adrenal gland.


Drug-induced anaphylaxis

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


Absent epiphysis of the middle phalanx of the 2nd toe


Proximal upper limb amyotrophy

Muscular atrophy affecting proximally located muscles of the arms.


Perihilar segmental glomerulosclerosis

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.


hemimegalencephaly

Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy.


Hypocapnia in cord blood

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


Streaky metaphyseal sclerosis

The presence of streaks (bands) of abnormally increased density of metaphyseal bone.


Abnormal B cell morphology

A structural abnormality of B cells.


Sclerosis of the distal phalanx of the 5th finger


Fractured epiphysis of fourth metacarpal bone

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


Fava bean-induced hemolytic anemia

A kind of hemolytic anemia that is induced by the ingestion of fava beans.


Multiple pulmonary interstitial hyalinized nodules

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


Glomerular karyhorrhectic debris

Apoptotic, pyknotic, and fragmented nuclei within the glomerulus.


Noncompaction cardiomyopathy

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

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

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


Abnormal palmar dermatoglyphics

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


Prolonged bleeding following circumcision

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


Bracket epiphyses of the 2nd finger

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


Decreased attenuation pattern on pulmonary HRCT

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.


Increased proteinogenic amino acid level in urine

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

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


Abnormal systemic arterial morphology

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


Abnormal ventricular myocardium morphology

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


Abnormal parotid gland morphology

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

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


Aplasia/Hypoplasia of the distal phalanx of the 5th finger


Contracture of thumb

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.


Fibrotic non-specific interstitial pneumonia

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


Osteolytic defects of the proximal phalanx of the 5th finger

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


Congenital contracture

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


Impaired neutrophil chemotaxis

An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response


Elevated circulating L-alloisoleucine concentration

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


Abnormal basophil count

Any deviation from the normal number of basophils per volume in the blood circulation.


Pseudoepiphysis of the thumb

A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb.


palmoplantar keratosis

A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis.


Abnormality of the tarsal bones

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

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


Abnormal diaphysis morphology

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


Torn meniscus

A tear in the cartilaginous pad (meniscus) of the knee.


Podocyte microvillous transformation

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


Reduced CSF methionine concentration

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


Frontal cortical atrophy

Atrophy of the frontal cortex.


hidrocystoma

A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative.


Anomalous hepatic venous drainage into the left atrium

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.


Storage in hepatocytes

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


Sternal pit

A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum.


Infra-aortic superior vena cava

The superior vena cava passes below the aortic arch.


Short proximal phalanx of the 3rd finger

Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger.


Oligoclonal elevation of circulating IgA

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.


Absent epiphysis of the distal phalanx of the 2nd toe


Abnormality of adrenal physiology

A functional abnormality of the adrenal glands.


Low plasma citrulline

A decreased concentration of citrulline in the blood.


Enlarged epiphyses of the proximal phalanges of the hand


Recurrent bronchitis

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


Mesomelic arm shortening

Shortening of the middle parts of the arm in relation to the upper and terminal segments.


Elevated circulating insulin:C-peptide ratio

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


Complete duplication of the distal phalanx of the 4th finger

Complete duplication of the distal phalanx of ring finger.


Aortic stiffness

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

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


heroin dependence

Physical and psychological dependence on the drug heroin.


Abnormal CSF methionine concentration

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


Congenital malformation of the right heart

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


Generalized microdontia

A generalized form of microdontia.


Interrupted aortic arch type B

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


Agenesis of maxillary premolar

Agenesis of maxillary premolar.


Secondary Caesarian section

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


Fragmentation of the epiphyses of the phalanges of the hand

Fragmented appearance of the epiphyses of the phalanges of the fingers.


Oral synechia

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


Supraventricular tachycardia with an accessory connection mediated pathway

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.


hyperreflexia

An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.


Abnormality of the proximal phalanx of the thumb

An anomaly of the shape or form of the proximal phalanx of the thumb.


Enlarged epiphysis of the proximal phalanx of the 3rd finger

Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.


Absent middle phalanx of 4th finger

Absence of the middle phalanx of the ring (4th) finger.


Digital ischemia

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.


hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterised by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive.


permanent congenital hypothyroidism

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


peripheral hypothyroidism

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.


brain-lung-thyroid syndrome

Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC).


familial thyroid dyshormonogenesis

A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.


thyroid ectopia

Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


Bamforth-Lazarus syndrome

Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.


thyroid dyshormonogenesis 5

Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene.


hypothyroidism due to deficient transcription factors involved in pituitary development or function

Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.


resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha


athyreosis

Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


thyroid dyshormonogenesis 2A

Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase.


thyroid hormone metabolism, abnormal 1

A rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.


congenital nongoitrous hypothryoidism 6

Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene.


peripheral resistance to thyroid hormones

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


blepharophimosis - intellectual disability syndrome, SBBYS type

Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.


syndromic hypothyroidism

A hypothyroidism that is part of a larger syndrome.


thyroid dyshormonogenesis 6

Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene.


thyroid hypoplasia

Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


hypothyroidism, congenital, nongoitrous, 7


Pendred syndrome

Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.


Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism.


thyroid dyshormonogenesis 3

Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene.


autoimmune polyendocrinopathy type 3

A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.


athyreotic congenital hypothyroidism

Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)


obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome

Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.


primary congenital hypothyroidism

Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.


congenital nongoitrous hypothryoidism 3

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.


X-linked central congenital hypothyroidism with late-onset testicular enlargement

An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency.


thyroid dyshormonogenesis 4

Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene.


hypothyroidism due to TSH receptor mutations

Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.


Factor XIII Inactivation

Presence of inactivating antibodies to factor XIII in the blood.


acquired factor XIII deficiency

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


spinal intradural arachnoid cysts

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

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


Ductal Eccrine Carcinoma with Abundant Fibromyxoid Stroma

A variant of ductal eccrine carcinoma with abundant fibromyxoid stroma.


metabotropic glutamate receptor 4

A metabotropic glutamate receptor protein that is a translation product of the human GRM4 gene or a 1:1 ortholog thereof.


metabotropic glutamate receptor 4 isoform h4 (human)

A metabotropic glutamate receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14833-4.


metabotropic glutamate receptor 4 isoform h1 (human)

A metabotropic glutamate receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14833-1.


metabotropic glutamate receptor 4 isoform h2 (human)

A metabotropic glutamate receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14833-2.


metabotropic glutamate receptor 4 isoform h3 (human)

A metabotropic glutamate receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14833-3.


metabotropic glutamate receptor 4, signal peptide removed form (human)

A metabotropic glutamate receptor 4 (human) that has had the signal peptide removed. UniProtKB:Q14833, 33-912.


metabotropic glutamate receptor 4 isoform h5 (human)

A metabotropic glutamate receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14833-5.


Grade 2 Cervix Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


retinitis pigmentosa 50

Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene.


distal trisomy 9q

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

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


ovarian mixed germ cell neoplasm

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.


Metastatic malignant neoplasm to pituitary gland

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.


Metastatic Malignant Neoplasm in the Sellar Region

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


transcriptional enhancer factor TEF-4 isoform h1 (human)

A transcriptional enhancer factor TEF-4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q15562-1.


Grade 2 Lip or Perioral Infection Documented Clinically or Microbiologically with Grade 3 or 4 Neutrophils, CTCAE


oxidized purine nucleoside triphosphate hydrolase

A protein that is a translation product of the human NUDT1 gene or a 1:1 ortholog thereof.


oxidized purine nucleoside triphosphate hydrolase isoform hp18 (human)

An oxidized purine nucleoside triphosphate hydrolase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P36639-4.


oxidized purine nucleoside triphosphate hydrolase isoform hp21 (human)

An oxidized purine nucleoside triphosphate hydrolase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P36639-3.


oxidized purine nucleoside triphosphate hydrolase isoform hp22 (human)

An oxidized purine nucleoside triphosphate hydrolase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P36639-2.


oxidized purine nucleoside triphosphate hydrolase isoform hp26 (human)

An oxidized purine nucleoside triphosphate hydrolase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P36639-1.


dual specificity tyrosine-phosphorylation-regulated kinase 2 ubiquitinated form (human)

A dual specificity tyrosine-phosphorylation-regulated kinase 2 (human) that includes at least one ubiquitinated lysine. UniProtKB:Q92630, MOD:01148.


Esophageal Dysphagia

Difficulty in swallowing due to an abnormality in the esophagus.


Stage IC Fallopian Tube Cancer AJCC v6 and v7

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

A disease caused by infection with Neorickettsia sennetsu.


Anaplasmataceae infectious disease

Infections with bacteria of the family anaplasmataceae.


human monocytic ehrlichiosis

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


anaplasmosis

A disease or disorder caused by infection with Anaplasma.


human granulocytic ehrlichiosis

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

A disease caused by infection with Neorickettsia.


Grade 3 Gastric Perforation, CTCAE

Invasive intervention indicated


Lacrimal Gland Cyst

Swelling of the lacrimal duct due to excess fluid.


pyoureter

An abscess that is located in the ureter.


Refractory Fallopian Tube Clear Cell Adenocarcinoma

Fallopian tube clear cell adenocarcinoma that is resistant to treatment.


Rho-associated protein kinase 1 isoform 1 cleaved 1 (human)

A Rho-associated protein kinase 1 isoform 1 cleaved 1 in human. UniProtKB:Q13464-1, 1-1113.


Rho-associated protein kinase 1 isoform 1 unmodified form (human)

A Rho-associated protein kinase 1 isoform 1 unmodified form in human.


Rho-associated protein kinase 1 isoform 1 (human)

A Rho-associated protein kinase 1 isoform 1 that is encoded in the genome of human.


Grade 5 Kidney Anastomotic Leak, CTCAE

Death


cholesterol 7-alpha-monooxygenase isoform 1 (rat)

A cytochrome P450 7A1 isoform 1 that is encoded in the genome of rat.


atrial natriuretic peptide receptor 1, signal peptide removed form (human)

An atrial natriuretic peptide receptor 1 (human) that has had the signal peptide removed. UniProtKB:P16066, 33-1061.


Joubert syndrome 20

Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene.


glucocorticoid receptor isoform hAlpha-D3 (human)

A glucocorticoid receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P04150-16.


ovarian solid teratoma

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

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.


Grade 2 Spinal Fracture, CTCAE

Moderate back pain; prescription analgesics indicated; limiting instrumental ADL


Cyanotic Body

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


Neonatal acrocyanosis

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


Cyanotic Limbs

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

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


Locally Advanced Endometrial Adenocarcinoma

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


Locally Advanced Unresectable Endometrial Carcinoma

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


Locally Advanced Endometrial Endometrioid Adenocarcinoma

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


Stage IVB Thymoma AJCC v8

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.)


Stage IVB Thymic Epithelial Neoplasm AJCC v8


Grade 2 Upper Extremity Vein Intra-Operative Injury, CTCAE


pediatric cerebral ependymoblastoma

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


childhood medulloblastoma

A medulloblastoma occurring in children.


childhood cerebellar astrocytic neoplasm

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.


childhood brainstem astrocytoma

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


proneural glioblastoma

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


pineal parenchymal tumor of intermediate differentiation

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

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)


pineal parenchymal tumor of intermediate differenciation

Pineal parenchymal tumor of intermediate differentiation (PPTID) describes a rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity.


astroblastoma

Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches.


IDH-mutant anaplastic astrocytoma

An anaplastic astrocytoma carrying IDH mutations.


melanotic neuroectodermal tumor

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

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

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.


medulloblastoma with extensive nodularity

Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis.


papillary glioneuronal tumor

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.


melanotic psammomatous malignant peripheral nerve sheath tumor

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


tanycytic ependymoma

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

A neuroblastoma arising from the cerebral hemispheres.


childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered

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


spinal cord primitive neuroectodermal tumor

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


brain stem medulloblastoma

A medulloblastoma that involves the brainstem.


brain stem astrocytic neoplasm

An astrocytoma that arises from the brain stem.


mediastinal schwannoma

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


melanotic medulloblastoma

A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course.


benign glioma

A form of glioma without malignant characteristics.


papillary ependymoma

A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO)


adrenal gland ganglioneuroblastoma

A ganglioneuroblastoma arising from the adrenal gland.


pineal gland astrocytoma

A astrocytoma that involves the pineal body.


rhabdoid tumor predisposition syndrome 2

Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene.


gangliocytoma

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


trigeminal schwannoma

A schwannoma that involves the trigeminal nerve.


childhood ependymoma

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


oligoastrocytoma

A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)


gliomatosis cerebri

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

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


adult anaplastic ependymoma

An anaplastic ependymoma occurring in adults.


congenital granular cell tumor

An instance of granular cell tumor that is present from birth.


optic tract astrocytoma

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

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


brain glioma

A malignant glioma that involves the brain.


peripheral primitive neuroectodermal tumor of bone

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


cerebellar vermis medulloblastoma

A medulloblastoma arising from the vermis of the cerebellum.


primitive neuroectodermal tumor of the corpus uteri

A primitive neuroectodermal tumor that involves the body of uterus.


extracranial neuroblastoma

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


spinal cord neuroblastoma

A neuroblastoma that affects the spinal cord.


spinal ependymoma, MYCN-amplified

A spinal cord ependymoma that is characterized by MYCN amplification.


neurofibromatosis, type III, mixed central and peripheral


mesenchymal glioblastoma

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


malignant cardiac peripheral nerve sheath neoplasm

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


ependymal tumor

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)


perineurioma

A usually benign perineurioma not associated with a nerve, arising from the soft tissues.


adult brainstem astrocytoma

An astrocytoma of the brain stem that occurs during adulthood.


IDH-wildtype anaplastic astrocytoma

An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes.


schwannoma of twelfth cranial nerve

A schwannoma that involves the hypoglossal nerve.


adult pineal parenchymal tumor

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


spinal cord oligodendroglioma

A oligodendroglioma that involves the spinal cord.


optic nerve astrocytoma

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


differentiating neuroblastoma

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


adult brainstem gliosarcoma

A gliosarcoma of the brain stem that occurs during adulthood.


malignant triton tumor

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

A glioma affecting the optic tract and occurring in childhood.


peripheral nerve schwannoma

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.


classic medulloblastoma

Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.


anaplastic/large cell medulloblastoma

A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity.


low grade glioma

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.


stroma-dominant and stroma-poor composite ganglioneuroblastoma

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.


desmoplastic/nodular medulloblastoma

A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.


anaplastic oligodendroglioma

A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity).


grade II glioma

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


optic pathway glioma

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).


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

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


juvenile pilocytic astrocytoma

A pilocytic astrocytoma that occurs during adolescence.


clear cell ependymoma

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


high-grade astrocytoma with piloid features

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.


anaplastic oligoastrocytoma

An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity.


childhood central nervous system primitive neuroectodermal neoplasm

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


malignant peripheral nerve sheath tumor

Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites.


gliofibroma

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

A neurofibroma characterized by the presence of cellular pleomorphism.


peripheral primitive neuroectodermal tumor of soft tissues

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


schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma

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

A ganglioneuroblastoma arising from the peripheral nervous system.


neurofibroma of the heart

A rare neurofibroma that affects the heart.


chordoid glioma of the third ventricle

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.


malignant melanocytic peripheral nerve sheath tumor of mediastinum

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

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


malignant cutaneous granular cell skin tumor

A malignant granular cell tumor that arises from the skin.


neural glioblastoma

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


diffuse astrocytoma, MYB- or MYBL1-altered

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


granular cell leiomyosarcoma

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


benign mediastinal psammomatous neurilemmoma

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


ependymal tumor of spinal cord

An ependymal tumor that arises from the spinal cord.


brain stem ependymoma

An ependymoma that arises from the brain stem.


classical glioblastoma

A molecular subtype of glioblastoma characterized by lack of p53 mutations, chromosome 7 amplifications or deletions, and high levels of EGFR amplification.


grade III glioma

A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma.


childhood low-grade glioma

A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology.


adult embryonal tumor with multilayered rosettes, c19mc-altered

An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults.


spinal cord glioma

A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma.


nodular medulloblastoma

A medulloblastoma characterized by nodularity and neuronal differentiation.


adult brainstem glioma

A brain stem glioma that occurs in an adult.


myxopapillary ependymoma

Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.


large cell medulloblastoma

A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma.


astroblastoma, MN1-altered

An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q.


mediastinal granular cell myoblastoma

An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum.


sympathetic neurilemmoma

A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus.


cellular ependymoma

An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO)


adult oligodendroglioma

An oligodendroglioma occurring during adulthood.


IDH-mutant and 1p/19q-codeleted oligodendroglioma

An anaplastic oligodendroglioma that has material basis in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion).


An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children.


papillary tumor of the pineal region

Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus.


high grade astrocytic tumor

An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor).


medulloblastoma non-WNT/non-SHH

A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent.


central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor

A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone.


malignant perineurioma

A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate.


cerebellar pilocytic astrocytoma

A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis.


retroperitoneal neuroblastoma

A neuroblastoma that involves the retroperitoneal space.


intracranial primitive neuroectodermal tumor

A primitive neuroectodermal tumor that involves the brain.


adult pineoblastoma

A pineoblastoma occurring in adults.


low grade astrocytic tumor

A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II).


childhood pilocytic astrocytoma

A pilocytic astrocytoma that occurs during childhood.


infant-type hemispheric glioma

A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood.


diffuse astrocytoma

A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified.


gemistocytic astrocytoma

A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO)


brain oligodendroglioma

A oligodendroglioma that involves the brain.


adult brainstem mixed glioma

A mixed glioma of the brain stem that occurs during adulthood.


A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components.


intermixed schwannian stroma-rich ganglioneuroblastoma

A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules.


atypical teratoid rhabdoid tumor

Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.


adult infiltrating astrocytic neoplasm

An infiltrating astrocytic tumor of the brain occurring in adults.


plexiform schwannoma

A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck.


posterior fossa ependymoma

A high grade ependymoma that is located within the posterior fossa.


cerebral astrocytoma

An astrocytoma that arises from the cerebral hemispheres.


oligodendroglial tumor

Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas).


medulloblastoma SHH activated

A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent.


astrocytic tumor

A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.


epithelioid neurofibroma

A rare neurofibroma with epithelioid morphology.


granular cell cancer

An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity.


childhood optic tract astrocytoma

An astrocytoma that arises from the visual pathway and occurs during childhood.


diffuse low-grade glioma, MAPK pathway–altered

A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma.


nasal ganglioglioma

Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction.


olfactory neuroblastoma

An olfactory neuroblastoma arising in the paranasal sinus.


melanotic neurilemmoma

A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients.


RELA fusion-positive ependymoma

A supratentorial ependymoma characterized by a gene fusion involving ZFTA and RELA genes. It accounts for the majority of supratentorial ependymomas in children. It has an unfavorable outcome when compared to other ependymoma subtypes.


cellular schwannoma

A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies.


extraneural perineurioma

Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.


cerebellar astrocytoma

Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative.


adult malignant schwannoma

A malignant peripheral nerve sheath tumor occurring during adulthood.


adult brain ependymoma

An ependymoma of the brain occurring in adults.


intraneural perineurioma

A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells.


retinal neuroblastoma

A neuroblastoma arising from the retina.


ependymal tumor of brain

A tumor arising from the ependymal lining of the ventricles.


vulvar granular cell tumor

A usually benign granular cell tumor that arises from the vulva.


A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields.


spinal cord astrocytoma

A low or high grade astrocytoma that arises in the spinal cord.


mediastinum ganglioneuroblastoma

A ganglioneuroblastoma arising from the mediastinum.


medullomyoblastoma with myogenic differentiation

A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma.


mixed astrocytoma-ependymoma

A tumor of mixed cell type with astrocytic components as well as ependymoma components.


diffuse intrinsic pontine glioma

A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis.


epithelioid malignant peripheral nerve sheath tumor

A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells.


subependymoma

Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.


Askin tumor

A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma.


protoplasmic astrocytoma

A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO)


mediastinal melanocytic neurilemmoma

A melanotic schwannoma that affects the mediastinum.


neurohypophysis granular cell tumor

A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)


pilomyxoid astrocytoma

An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive.


nodular ganglioneuroblastoma

A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules.


embryonal tumor of neuroepithelial tissue


neuroepithelioma

Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation.


childhood malignant schwannoma

A malignant peripheral nerve sheath tumor occurring in children.


IDH-wildtype glioblastoma

A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes.


nerve sheath neoplasm

A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor.


supratentorial ependymal tumor

An ependymal tumor arising from the supratentorial region of the brain.


adult spinal cord ependymoma

An ependymoma of the spinal cord occurring in adults.


medulloblastoma WNT activated

A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent.


frontal lobe ependymal tumor

An ependymal tumor affecting the frontal lobe of the brain.


anaplastic ependymoma

Anaplastic ependymoma is a rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.


angiocentric glioma

Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis.


cervical neuroblastoma

A relatively uncommon neuroblastoma that is found in the neck.


adrenal gland neuroblastoma

A neuroblastoma arising from the adrenal gland.


mediastinum neurofibroma

A neurofibroma that arises from the posterior mediastinum. Excision is usually curative.


cauda equina intradural extramedullary astrocytoma


nasal cavity olfactory neuroblastoma

An olfactory neuroblastoma arising in the nasal cavity.


corpus callosum oligodendroglioma

A oligodendroglioma that involves the corpus callosum.


infratentorial ependymal tumor

An ependymal tumor arising from the infratentorial region of the brain.


adult medulloblastoma

A medulloblastoma arising from the brain, occurring in adults.


malignant melanocytic neoplasm of the peripheral nerve sheath

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


anaplastic ganglioglioma

A WHO grade III neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and anaplastic glial cells. The anaplastic changes in the glial component and high MIB-1 and TP53 labeling indices may indicate aggressive behavior. However, the correlation of histological anaplasia with clinical outcome is inconsistent. (Adapted from WHO)


mixed glioma

A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes).


cerebellar liponeurocytoma

A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)


cutaneous ganglioneuroma

A ganglioneuroma arising from the skin.


adult spinal cord glioblastoma

A rare spinal tumor which is highly malignant and tends to be locally invasive of surrounding neural tissue. The tumor also tends to spread throughout the neuroaxis and is often rapidly progressive. Histologically the tumors are highly cellular with nuclear and cellular pleomorphism, endothelial proliferation, mitotic figures, and, often, necrosis. This tumor has a relatively poor prognosis. Clinical features may include pain followed by rapidly progressive neurologic deficits such as extremity weakness, sensory changes, spasticity, and incontinence. (From Innocenzi et al., Clin Neurol Neurosurg 1997 Feb;99(1):1-5)


central nervous system tumor with bcor internal tandem duplication

A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene.


parietal lobe ependymal tumor

An ependymal tumor affecting the parietal lobe of the brain.


schwannoma of ureter

A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter.


mediastinum neuroblastoma

A neuroblastoma arising from the mediastinum.


childhood brain stem glioma

An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life.


diencephalic astrocytomas

A astrocytoma that involves the diencephalon.


microcystic/reticular schwannoma

The rarest histopathologic subtype of Schwannoma. The reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. Morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and Antoni A tissue.


dopaminergic neuroblastoma

A neuroblastoma associated with increased dopamine excretion.


cellular neurofibroma

A neurofibroma characterized by the presence of areas with increased cellularity.


Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures.


spinal cord ependymoma

An ependymoma that arises from the spinal cord.


pediatric infratentorial ependymoma

An ependymoma that arises from the infratentorial region of the brain and occurs during childhood.


cns neuroblastoma with FOXR2 activation

A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo.


cutaneous granular cell tumor

A granular cell tumor that involves the zone of skin.


adult glioblastoma

A glioblastoma occurring in adults.


breast granular cell tumor

A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm.


schwannomatosis

The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.


supratentorial ependymoma

A high grade ependymoma that is located within the supratentorial brain.


adult central nervous system primitive neuroectodermal neoplasm

A central nervous system embryonal tumor, not otherwise specified that occurs in adults.


giant cell glioblastoma

A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)


pediatric supratentorial ependymoma

An ependymoma that arises from the supratentorial region of the brain and occurs during childhood.


childhood cerebral astrocytoma

An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children.


fibrillary astrocytoma

The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)


neurilemmoma of the pleura

A schwannoma that involves the pleura.


malignant glandular tumor of peripheral nerve sheath

A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium.


adult astrocytic tumour

An astrocytic tumor occurring during adulthood. Representative examples include diffuse astrocytoma, anaplastic astrocytoma, and glioblastoma.


childhood oligodendroglioma

An oligodendroglioma that arises from the central nervous system and occurs during childhood.


granular cell tumor

An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast.


gliosarcoma

A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO).


schwannoma of jugular foramen

A rare intracranial schwannoma that affects the jugular foramen.


brain astrocytoma

A astrocytoma (excluding glioblastoma) that involves the brain.


Grade 4 Retinoic Acid Syndrome, CTCAE

Life-threatening consequences; ventilatory support indicated


Grade 3 Tumor Lysis Syndrome, CTCAE

Present


Grade 5 Tumor Lysis Syndrome, CTCAE

Death


Cytokine Release Syndrome or Acute Infusion Reaction, CTCAE


Grade 1 Retinoic Acid Syndrome, CTCAE

Fluid retention; <3 kg of weight gain; intervention with fluid restriction and/or diuretics indicated


Grade 3 Retinoic Acid Syndrome, CTCAE

Severe symptoms; hospitalization indicated


Grade 1 Cytokine Release Syndrome or Acute Infusion Reaction, CTCAE


Grade 2 Cytokine Release Syndrome or Acute Infusion Reaction, CTCAE


Grade 5 Cytokine Release Syndrome or Acute Infusion Reaction, CTCAE


Grade 4 Cytokine Release Syndrome or Acute Infusion Reaction, CTCAE


Grade 3 Alcohol Intolerance Antabuse-Like Syndrome, CTCAE


Alcohol Intolerance Antabuse-Like Syndrome, CTCAE


Grade 5 Alcohol Intolerance Antabuse-Like Syndrome, CTCAE


Grade 3 Cytokine Release Syndrome or Acute Infusion Reaction, CTCAE


Grade 5 Retinoic Acid Syndrome, CTCAE

Death


Grade 2 Retinoic Acid Syndrome, CTCAE

Moderate signs or symptoms; steroids indicated


Retinoic Acid Syndrome, CTCAE

A disorder characterized by weight gain, dyspnea, pleural and pericardial effusions, leukocytosis and/or renal failure originally described in patients treated with all-trans retinoic acid.


disulfide

Compounds of structure RSSR'.


organic disulfide

Compounds of structure RSSR in which R and R' are organic groups.


Recurrent Lung Neuroendocrine Neoplasm

The reemergence of a lung neuroendocrine neoplasm after a period of remission.


benign testicular sertoli cell tumor

A non-metastasizing sex cord-stromal tumor that arises from the testis. Morphologically, it is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent.


testicular sertoli cell tumor

A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course.


Grade 4 Esophageal Varices Hemorrhage, CTCAE

Life-threatening consequences; urgent intervention indicated


Refractory Childhood Lymphoma

Childhood Hodgkin or non-Hodgkin lymphoma that is resistant to treatment.


Refractory Childhood Hodgkin Lymphoma

Hodgkin lymphoma that occurs during childhood and is resistant to treatment.


serine/threonine-protein kinase receptor R3 sequence variant L285F (human)

A serine/threonine-protein kinase receptor R3 (human) that has a Phe residue at the position equivalent to Leu-285 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Leu-285, CHEBI:29997.


developmental and epileptic encephalopathy, 86


Tuberculous bronchopneumonia

Acute and progressive bronchopneumonia caused by Mycobacterium tuberculosis bacteria.  It is characterized by widespread pulmonary patchy consolidations.


Advanced HER2-Low Breast Carcinoma

HER2-low breast adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


combined oxidative phosphorylation defect type 30

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene.


15-hydroxy steroid

A hydroxy steroid carrying a hydroxy group at position 15.


15alpha-hydroxy steroid

A 15-hydroxy steroid in which the hydroxy group at position 15 has an alpha-configuration.


dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 1 (human)

A dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2 that is encoded in the genome of human.


dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform Short (rat)

A dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2 that is encoded in the genome of rat.


serine/threonine-protein kinase Nek10 isoform h1 (human)

A serine/threonine-protein kinase Nek10 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6ZWH5-1.


Ovarian Mucinous Cystic Tumor with Mural Nodules

A mucinous cystic tumor of the ovary characterized by the presence of one or more well circumscribed solid nodules in the wall of the cysts (mural nodules) that protrude into the lumen.  The mural nodules may be benign (sarcoma-like) or malignant.  The malignant mural nodules histologically are anaplastic carcinomas, carcinosarcomas, or sarcomas.  The clinical course depends on the histology of the mural nodules.  The prognosis of mucinous cystic tumors with benign mural nodules is the same as the corresponding types of mucinous cystic tumors without the mural nodules.  Mucinous cystic tumors with malignant mural nodules may follow a malignant clinical course.


invasive hydatidiform mole

A complete hydatidiform mole or very rarely a partial mole that invades the myometrium.


placenta neoplasm

A neoplasm (disease) that involves the placenta.


Metastatic Neoplasm to the Placenta

A malignant neoplasm that has spread to the placenta from another anatomic site.


Placental polyp

A polyp in the uterine cavity that is formed by placenta remnants.


placental choriocarcinoma

Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur.


benign neoplasm of placenta

A benign neoplasm that involves the placenta.


placenta cancer

A malignant neoplasm involving the placenta.


Metastatic Hydatidiform Mole

The spread of abnormal molar chorionic villi from an invasive hydatidiform mole in the uterine cavity to other anatomic sites, usually the vaginal wall and pelvis.


Epithelioid sarcoma recurrent

The reemergence of epithelioid sarcoma after a period of remission


autosomal recessive limb-girdle muscular dystrophy type 2B

Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.


Blasts Under 10,000 of Peripheral Blood White Cells

A quantitative microscopic finding indicating that less than 10,000 of the total number of nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


suppurative lymphadenitis

A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria.


pericardium cancer

A malignant neoplasm involving the pericardium.


Pericardial Sarcoma

A rare sarcoma that arises from the pericardium. The two most common types are angiosarcoma and synovial sarcoma. Patients present with symptoms related to pericardial effusion.


Pericarditis malignant

Pericarditis caused by the infiltration of the pericardium by a malignant neoplasm.  The diagnosis is based on the cytological examination of pericardial fluid or the histologic examination of pericardial tissue.


Metastatic malignant neoplasm to pericardium

A malignant neoplasm that has spread to the pericardium from another primary anatomic site.


Pericardial mesothelioma malignant recurrent

The reemergence of malignant mesothelioma in the pericardium after a period of remission.


Pericardial Primary Effusion Lymphoma

Primary effusion lymphoma that affects the pericardial cavity. The majority of patients are HIV-positive men.


Pericardial Yolk Sac Tumor

A yolk sac tumor that arises within the pericardium.


Pericardial Carcinomatosis

Carcinoma that has spread diffusely to the pericardium.


Pericardial Synovial Sarcoma

A rare synovial sarcoma that arises from the pericardium. Patients present with symptoms related to pericardial effusion.


Malignant Pericardial Germ Cell Tumor

A malignant germ cell tumor that arises within the pericardium.


Pericardial Angiosarcoma

A rare angiosarcoma that arises from the pericardium. Patients present with symptoms related to pericardial effusion.


intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type


endogenous depression

Depression which is considered strictly biological.


A synthetic phenylalanine derivative consisting of a 1:1 diatereoisomeric mixture of ochratoxin A and its isochromenyl C-3 epimer.


Finding During Childbirth Labor

Symptom, signs, test results in a pregnant mother childbirth.


glycine receptor subunit alpha-3 isoform Alpha-3K (human)

A glycine receptor subunit alpha-3 isoform 2 that is encoded in the genome of human.


gamma-aminobutyric acid receptor subunit alpha-2 N-glycosylated 10 (rat)

A gamma-aminobutyric acid receptor subunit alpha-2 (rat) that has been N-glycosylated at the residue equivalent to Asn-138 of the amino acid sequence represented by UniProtKB:P23576-1, in which the glycan composition is represented by GlyTouCan:G62765YT. Example: UniProtKB:P23576-1, Asn-138, MOD:00160~GNO:G62765YT.


Bladder carcinoma stage I, without cancer in situ

Stage I includes: T1, N0, M0.  T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 6th and 7th eds.)


Bladder Cancer by AJCC v7 Stage

A term that refers to the staging of bladder cancer according to the American Joint Committee on Cancer, 7th edition.


Bladder squamous cell carcinoma stage 0

Stage 0 includes: Tis, N0, M0.  Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 6th and 7th Eds.)


Bladder transitional cell carcinoma stage II

Stage II includes: (T2a, N0, M0); (T2b, N0, M0).  T2a: Tumor invades superficial muscle (inner half).  T2b: Tumor invades deep muscle (outer half).  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 6th and 7th Eds.)


Stage 0a Bladder Urothelial Carcinoma AJCC v6 and v7

Stage 0a includes: Ta, N0, M0. Ta: Papillary noninvasive carcinoma.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


Bladder carcinoma stage I, with cancer in situ

Stage I bladder carcinoma associated with the presence of bladder carcinoma in situ.


Stage IV Bladder Cancer AJCC v7

Stage IV includes: (T4b, N0, M0); (Any T, N1-3, M0); (Any T, Any N, M1).  T4b: Tumor invades pelvic wall, abdominal wall.  N0: No regional lymph node metastasis.  N1: Single regional lymph node metastasis in the true pelvis (hypogastric, obturator, external iliac, or presacral lymph node).  N2: Multiple regional lymph node metastases in the true pelvis (hypogastric, obturator, external iliac, or presacral lymph node metastasis).  N3: Metastasis to the common iliac lymph nodes.  M0: No distant metastasis.  M1: Distant metastasis.  (AJCC 7th ed.)


Bladder transitional cell carcinoma stage III

Stage III includes: (T3a, N0, M0); (T3b, N0, M0); (T4a, N0, M0).  T3a: Tumor microscopically invades perivesical tissue.  T3b: Tumor macroscopically invades perivesical tissue (extravesical mass).  T4a: Tumor invades prostatic stroma, uterus, vagina.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 6th and 7th eds.)


Bladder squamous cell carcinoma stage III


Bladder adenocarcinoma stage II

Stage II includes: (T2a, N0, M0); (T2b, N0, M0).  T2a: Tumor invades superficial muscle (inner half).  T2b: Tumor invades deep muscle (outer half).  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


Bladder transitional cell carcinoma stage IV


Bladder squamous cell carcinoma stage IV


Bladder transitional cell carcinoma stage I


Stage 0 Bladder Carcinoma

Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0).  Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: "flat tumor".  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 6th and 7th Eds.)


Refractory Stage 0 Bladder Cancer AJCC v6 and v7

Stage 0 bladder cancer defined according to the AJCC v6 and v7 criteria that is resistant to treatment.


Bladder squamous cell carcinoma stage II


neuropeptide Y receptor

A rhodopsin-like G-protein coupled receptor that is a translation product of the human NPY1R, NPY2R, or NPY4R to NPY6R genes, 1:1 orthologs thereof, or a semi-ortholog thereof.


neuropeptide Y receptor type 2

A neuropeptide Y receptor that is a translation product of the human NPY2R gene or a 1:1 ortholog thereof.


Advanced Undifferentiated Pleomorphic Sarcoma

An undifferentiated pleomorphic sarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


solute carrier family 22 member 1 isoform h2 (human)

A solute carrier family 22 member 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O15245-2.


interleukin-1 receptor accessory protein

A protein that is a translation product of the human IL1RAP gene or a 1:1 ortholog thereof.


interleukin-1 receptor accessory protein isoform h3 (human)

An interleukin-1 receptor accessory protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NPH3-3.


interleukin-1 receptor accessory protein isoform h4 (human)

An interleukin-1 receptor accessory protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NPH3-5.


interleukin-1 receptor accessory protein isoform 1 (human)

An interleukin-1 receptor accessory protein isoform 1 that is encoded in the genome of human.


interleukin-1 receptor accessory protein isoform h2 (human)

An interleukin-1 receptor accessory protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NPH3-2.


Grade 2 Spermatic Cord Perforation, CTCAE


Superficial injury of abdomen, lower back and pelvis, part unspecified

An injury to the soft tissues overlying the abdomen, lower back or pelvis.


CAAX prenyl protease 2

A protein that is a translation product of the human RCE1 gene or a 1:1 ortholog thereof.


CAAX prenyl protease 2, initiator methionine removed form (human)

A CAAX prenyl protease 2 (human) that has had the initiator methionine removed. UniProtKB:Q9Y256, 2-329.


CAAX prenyl protease 2, initiator methionine removed ubiquitinated form (human)

A CAAX prenyl protease 2 (human) that has had the initiator methionine removed and that includes at least one ubiquitinated lysine. UniProtKB:Q9Y256, 2-329, MOD:01148.


CAAX prenyl protease 2 isoform 1 (human)

A CAAX prenyl protease 2 isoform 1 that is encoded in the genome of human.


funisitis

An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid.


Grade 2 Renal Colic, CTCAE

Moderate pain; limiting instrumental ADL; prescription medication indicated


Grade 3 Eczema, CTCAE

Severe or medically significant but not immediately life-threatening; IV intervention indicated


Functioning Pancreatic Neuroendocrine Tumor G2

An intermediate grade well differentiated neoplasm with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion.


Pancreatic Neuroendocrine Tumor G2

An intermediate grade well differentiated neoplasm with neuroendocrine differentiation that arises from the pancreas. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3-20%.


Non-Functioning Pancreatic Neuroendocrine Tumor G2

An intermediate grade well differentiated neoplasm with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome.


Grade 2 Nose Infection Documented Clinically or Microbiologically with Grade 3 or 4 Neutrophils, CTCAE


autoimmune disorder of endocrine system

A hypersensitivity reaction type II disease that involves the endocrine system.


adenohypophysitis

An autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. It predominantly affects young women in pregnancy or the peripartum period.