house allergic alveolitis

description: House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis.


congenital chylothorax

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

description: Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.


adenosquamous lung carcinoma

description: An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells.


pulmonary aspergilloma

description: A aspergillosis that involves the lung.


name: lung combined large cell neuroendocrine carcinoma

description: A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma.


toxic pneumonitis

description: A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gasses and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects.


bird fancier's lung

description: Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis.


name: secondary pulmonary alveolar proteinosis

description: A form of pulmonary alveolar proteinosis that arises in association with hematological disorders, medications, certain infections, acute silicosis, and immunodeficiency.


byssinosis

description: An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week.


acute chest syndrome

description: A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia.


silo filler disease

description: A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage.


lung signet ring cell carcinoma

description: A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells.


fungal lung infectious disease

description: Pulmonary diseases caused by fungal infections, usually through hematogenous spread.


localized pulmonary fibrosis

description: Replacement of the lung tissue by connective tissue in a specific area of the lung.


name: Rajab interstitial lung disease with brain calcifications


ventilation pneumonitis

description: An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease.


lung mucous gland adenoma

description: A benign adenomatous neoplasm that arises from the mucous glands in the bronchus.


slate pneumoconiosis

description: Pneumoconiosis caused by exposure to slate dust.


hypersensitivity pneumonitis, familial

description: An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome.


pulmonary sarcoidosis

description: Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss.


lymphoid interstitial pneumonia

description: Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment.


name: hemosiderosis, pulmonary, with deficiency of gamma-a globulin


high altitude pulmonary edema

description: A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe.


name: pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9


lung carcinoid tumor

description: A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis.


name: lung combined type small cell adenocarcinoma

description: A lung combined type small cell carcinoma that has material basis in epithelial tissue of glandular origin.


maple bark strippers' lung

description: A hypersensitivity pneumonitis associated with the inhalation of fungal spores of Cryptostroma corticale in workers stripping the bark from maple and sycamore logs affected by sooty bark disease.


pulmonary coin lesion

description: A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura.


cryptogenic organizing pneumonia

description: Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found.


pulmonary sulcus neoplasm

description: A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor.


bronchus mucoepidermoid carcinoma

description: A mucoepidermoid carcinoma that involves the bronchus.


name: interstitial lung disease specific to infancy


hantavirus pulmonary syndrome

description: An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems.


name: well-differentiated fetal adenocarcinoma of the lung

description: Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss.


Heiner syndrome

description: Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis, digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet.


lung epithelial-myoepithelial carcinoma

description: A lung carcinoma arising within the bronchi or bronchial tubes. It is characterized by the presence of myoepithelial cells, spindle cells, clear cells, and duct-forming epithelial cells. Surgical resection may be curative.


hemangioma of lung

description: A hemangioma that involves the lung.


interstitial emphysema

description: Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome.


lung occult adenocarcinoma

description: A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.


isolated pulmonary capillaritis

description: Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative.


name: cytomegalovirus pneumonia due to NOS2 deficiency

description: Cytomegalovirus pneumonia due to variant in the NOS2 gene.


restrictive pulmonary disease

description: Decreased lung volume and inadequate ventilation due to parenchymal lung disorders (e.g., interstitial pulmonary fibrosis) or extrapulmonary disorders (e.g., scoliosis). Patients present with shortness of breath and cough.


staphylococcal pneumonia

description: Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus.


name: idiopathic chronic eosinophilic pneumonia

description: A very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss).


name: pulmonary fibrosis and/or bone marrow failure, telomere-related


papillary lung adenocarcinoma

description: A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures.


chronic eosinophilic pneumonia

description: Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement.


Klebsiella pneumonia

description: An pneumonia caused by infection with Klebsiella.


bronchiolitis

description: Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath.


Caplan syndrome

description: A combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray.


pulmonary systemic sclerosis

description: Evidence of systemic sclerosis with lung involvement.


lung leiomyosarcoma

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


name: drug or radiation exposure-related interstitial lung disease


Lane Hamilton syndrome

description: A rare concurrent association of idiopathic pulmonary hemosiderosis and celiac disease, and is typically seen in children under the age of 15.


anthracosilicosis

description: Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath.


lung sarcomatoid carcinoma

description: A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor.


name: chronic respiratory distress with surfactant metabolism deficiency


pleuropulmonary blastoma type 1

description: A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent.


lung pleomorphic carcinoma

description: A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located in the lung.


lung giant cell carcinoma

description: A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion.


congenital lobar emphysema

description: Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung.


shrinking lung syndrome

description: A rare pulmonary complication of an underlying autoimmune disorder that is reported in association with systemic lupus erythematosus (SLE). Reduced lung volumes result in restrictive ventilatory defect and a preserved carbon monoxide transfer coefficient.


lung adenoid cystic carcinoma

description: A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain.


name: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

description: Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene.


name: solid adenocarcinoma with mucin production


name: interstitial lung disease specific to childhood

description: A interstitial lung disease that occurs during childhood.


name: combined pulmonary fibrosis-emphysema syndrome


bronchopneumonia

description: Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain.


combined lung carcinoma

description: A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells.


name: interstitial lung disease due to SP-C deficiency


lung germ cell tumor

description: A germ cell tumor that arises from the lung.


middle lobe syndrome

description: Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed)


anaerobic pneumonia

description: A pneumonia caused by anaerobic bacteria.


lung meningioma

description: A primary or metastatic meningioma that is present in the lung. The lung is the most frequent site of metastasis of meningiomas.


neonatal aspiration syndrome

description: Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn.


name: lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

description: Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.


lung hilum cancer

description: A malignant neoplasm involving the lung hilus.


lung sarcoma

description: A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma.


lung carcinoma in situ

description: A carcinoma in situ involving a lung.


postinfectious bronchiolitis obliterans

description: An irreversible obstructive lung disease characterized by subepithelial inflammation and fibrotic narrowing of the bronchioles after lower respiratory tract infection during childhood, especially early childhood. Although diagnosis of PIBO should be confirmed by histopathology, it is generally based on history and clinical findings. Irreversible airway obstruction is demonstrated by decreased forced expiratory volume in 1 second with an absent bronchodilator response, and by mosaic perfusion, air trapping, and/or bronchiectasis on computed tomography images. However, lung function tests using spirometry are not feasible in young children, and most cases of PIBO develop during early childhood.


tuberculous fibrosis of lung

description: Scarring of the lung parenchyma caused by pulmonary tuberculosis.


acute respiratory distress syndrome

description: Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition.


bronchus carcinoma in situ

description: A carcinoma in situ involving a bronchus.


lipid pneumonia

description: Pneumonia due to aspiration or inhalation of various oily or fatty substances.


Mycoplasma pneumoniae pneumonia

description: Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar.


lung superior sulcus carcinoma

description: A carcinoma originating from the apical lung. Most superior sulcus lung carcinomas are bronchogenic carcinomas. This carcinoma may be associated with Pancoast syndrome. lt is also known as Pancoast tumor.


lung adenoma

description: A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma.


follicular bronchiolits

description: A polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the development of lymphoid follicles with germinal centers in walls of the small airways.


Graham-Boyle-Troxell syndrome

description: Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.


cytomegalovirus pneumonia

description: Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating.


lung abscess

description: A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis.


name: bronchiolocentric pattern of interstitial pneumonia

description: An interstitial lung disease characterized histologically by fibrosis and/or inflammation confined to the alveolar interstitium around bronchovascular bundles, overlapping with peribronchial metaplasia, fibrosis in some series and the lack of interstitial granulomas.


malignant glomus tumor

description: A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course.


pericytic neoplasm

description: A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.


adult malignant hemangiopericytoma

description: A malignant hemangiopericytoma occurring in the adult population.


breast hemangiopericytoma

description: A hemangiopericytoma arising from the breast.


skin glomus tumor

description: A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site.


cutaneous glomangioma

description: A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells.


hemangiopericytoma, malignant

description: An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone.


hemangiopericytoma of skin

description: A hemangiopericytoma that involves the zone of skin.


myofibroma

description: A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.


heart malignant hemangiopericytoma

description: A malignant hemangiopericytoma arising in the heart.


glomus tumor

description: A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities.


myopericytoma

description: A usually slow growing, subcutaneous nodular neoplasm arising from myopericytes. It is composed of myoid cells arranged in a perivascular growth pattern. The vast majority of cases have a benign clinical course.


cutaneous glomangiomyoma

description: A glomangiomyoma that involves the zone of skin.


Pericytoma with t(7;12)

description: A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation.


telangiectatic glomangioma

description: A glomus tumor characterized by huge vascular channel formations.


angioleiomyoma

description: A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels.


description: A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity.


subungual glomus tumor

description: A glomus tumor arising in the finger and usually associated with pain.


kidney hemangiopericytoma

description: A hemangiopericytoma arising from the kidney.


glomangiomatosis

description: A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces.


name: adult intracranial malignant hemangiopericytoma

description: A solitary fibrous tumor/hemangiopericytoma, grade 3 that arises from the brain and occurs in the adult population.


meninges hemangiopericytoma

description: A solitary fibrous tumor/hemangiopericytoma that arises from the meninges.


retroperitoneal hemangiopericytoma

description: A benign or malignant hemangiopericytoma arising from the retroperitoneum.


glomangiomyoma

description: A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle.


hemangiopericytic tumor

description: A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern.


childhood malignant hemangiopericytoma

description: A malignant hemangiopericytoma occurring in childhood.


description: A malignant hemangiopericytoma arising in the mediastinum.


intravascular angioleiomyoma

description: A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels.


benign perivascular tumor

description: A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.


name: Blood pressure substantially higher in legs than arms

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

description: An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.


vaginismus

description: Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection.


psychologic vaginismus

description: Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause.


dermatoleukodystrophy

description: Dermatoleukodystrophy is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.


name: mitochondrial complex 1 deficiency, nuclear type 28


name: esophageal small cell neuroendocrine carcinoma

description: An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells.


myopathy caused by variation in FKTN

description: Any myopathy in which the cause of the disease is a variation in the FKTN gene.


name: canine thyroid gland medullary carcinoma

description: Thyroid gland medullary carcinoma occurring in a dog.


arginine derivative

An amino acid derivative resulting from reaction of arginine at the amino group, the carboxy group, or the guanidyl group, or from the replacement of any hydrogen of arginine by a heteroatom. The definition normally excludes peptides containing arginine residues.


L-arginine derivative

A proteinogenic amino acid derivative resulting from reaction of L-arginine at the amino group, the carboxy group, or the guanidyl group, or from the replacement of any hydrogen of L-arginine by a heteroatom.


Compensated hypothyroidism

description: Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).


(R)-diethylpropion

The (R)-enantiomer of amfepramone.


breast leiomyoma

description: A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


name: Tessadori-van Haaften neurodevelopmental syndrome 1


name: Platinum-Sensitive Endometrial Serous Adenocarcinoma

description: An endometrial serous adenocarcinoma that has a documented response to platinum-based chemotherapy.


Ampulla of Vater Tubulovillous Adenoma

description: An intestinal-type adenoma arising from the ampulla of Vater.  It is characterized by the presence of tubular and villous epithelial structures and it is associated with dysplasia.


Demyelinating sensory neuropathy

description: Demyelination of peripheral sensory nerves.


(R)-norverapamil

2-(3,4-dimethoxyphenyl)-5-{[2-(3,4-dimethoxyphenyl)ethyl]amino}-2-(propan-2-yl)pentanenitrile that has R configuration.


(S)-norverapamil

2-(3,4-dimethoxyphenyl)-5-{[2-(3,4-dimethoxyphenyl)ethyl]amino}-2-(propan-2-yl)pentanenitrile that has S configuration.


name: tubulopapillary adenoma of extrahepatic bile duct

description: An adenoma that arises from the extrahepatic bile ducts.  It is characterized by the presence of tubular and papillary growth patterns.


Progressive congenital scoliosis

description: A progressive form of scoliosis with congenital onset.


Periodic fever

description: Episodic fever that recurs at regular intervals.


Quotidian fever

description: Fever that occurs at daily intervals.


name: Umbilical Hernia with Obstruction without Mention of Gangrene

description: The protrusion of contents of the abdominal cavity through the abdominal wall, at the site of the umbilicus, which results in obstruction, without mention of necrosis of the herniated contents.


name: Pulmonary myxoid sarcoma with EWSR1-CREB1 translocation

description: A sarcoma that arises from the lung. It is related to a bronchus and is often predominantly endobronchial. It is characterized by the proliferation of round and spindle cells within a myxoid stroma. It is associated with the presence of an EWSR1::CREB1 fusion gene.


name: lymphoepithelioma-like acinar prostate adenocarcinoma

description: A variant of prostate carcinoma characterized by the presence of malignant cells forming syncytial patterns and dense lymphocytic infiltrates.


Sinonasal Tract Myxoma

description: A rare, benign, non-odontogenic tumor that arises from the sinonasal tract and occurs almost exclusively in children younger than three years old. It is a hypocellular tumor composed of spindle, stellate, or round cells in a myxoid stroma.


Ventricular myxoma

description: A cardiac myxoma arising from the ventricle.


Cutaneous myxoma

description: A myxoma originating in the skin.


Intramuscular Myxoma

description: A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy.


Atrial myxoma

description: A cardiac myxoma arising from the atrium.


Ovarian Myxoma

description: A myxoma arising from the ovary.


Myxoma of the Endocardium

description: A myxoma arising from the endocardium.


Right atrial myxoma

description: A cardiac myxoma arising from the right atrium.


Conjunctival Myxoma

description: A rare myxoma arising from the bulbar conjunctiva.


Juxta-Articular Myxoma

description: A rare myxoma that usually arises in an area close to a large joint.  Morphologically it resembles a cellular myxoma.  In contrast to an intramuscular myxoma, it is not associated with mutations of the GNAS gene.


Follicular Myxoma

description: A cutaneous myxoma arising from the hair follicle.


Left atrial myxoma

description: A cardiac myxoma arising from the left atrium.


Cellular myxoma

description: An intramuscular myxoma with increased cellularity and increased numbers of collagen fibers and blood vessels.


neurofibroma of spinal cord

description: A neurofibroma that arises from the spinal cord.


adult pure red cell aplasia

description: Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.


name: transient erythroblastopenia of childhood

description: An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy.


Abnormal coronary artery physiology

description: Any anomaly of the function of a coronary artery.


Anti-U3 RNP antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP.


name: Progressive Central Nervous System Neoplasm

description: A central nervous system neoplasm that is increasing in scope or severity.


Progressive Disease in Neuroblastoma

description: Any component (i.e., soft tissue, bone, and bone marrow disease) with progressive disease. (J Clin Oncol 35: 2580-2587, 2017)


description: SHH-activated medulloblastoma that is increasing in scope or severity.


Progressive Medulloblastoma

description: Medulloblastoma that is increasing in scope or severity.


Progressive Ependymoma

description: Ependymoma that is increasing in scope or severity.


name: Membranoproliferative Glomerulonephritis Type 3 (AQ)

description: Glomerulonephritis similar in appearance under light microscopy to membranoproliferative glomerulonephritis (MPGN) I, but with subepithelial or transmembranous and subendothelial deposits on electron microscopy.


name: Locally Advanced Lung Small Cell Carcinoma

description: Lung small cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


name: large B-cell diffuse lymphoma of lacrimal gland

description: A diffuse large B-cell lymphoma that arises from the lacrimal gland.


R-NICOTINE

A 3-(1-methylpyrrolidin-2-yl)pyridine in which the chiral centre has R-configuration.


16alpha-hydroxy steroid

A 16-hydroxy steroid in which the hydroxy group at position 16 has alpha-configuration.


organic anion

Any organic ion with a net negative charge.


organophosphate oxoanion

An organic phosphoric acid derivative in which one or more oxygen atoms of the phosphate group(s) has been deprotonated.


salicylates

Any salt or ester arising from reaction of the carboxy group of salicylic acid, or any ester resulting from the condensation of the phenolic hydroxy group of salicylic acid with an organic acid.


benzoates

A monocarboxylic acid anion obtained by deprotonation of the carboxy group of any benzoic acid.


carbamate

Any ester of carbamic acid or its N-substituted derivatives.


monocarboxylic acid anion

A carboxylic acid anion formed when the carboxy group of a monocarboxylic acid is deprotonated.


carboxylic acid anion

The conjugate base formed when the carboxy group of a carboxylic acid is deprotonated.


A phenolate anion that is the conjugate base of 2',4,4',6'-tetrahydroxychalcone, obtained by deprotonation of the phenolic hydroxy group at position 2'; major species at pH 7.3.


aromatic carboxylate

A carboxylic acic anion obtained by deprotonation of the carboxy group of any aromatic carboxylic acid. Major species at pH 7.3.


Increased HbA2 hemoglobin

description: An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia.


Myelokathexis

description: Impaired egress of mature neutrophils from bone marrow causing neutropenia.


Absent platelet dense granules

description: Lack of platelet dense granules, a type of platelet organelles.


name: Increased proportion of CD25+ mast cells

description: An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain).


Abnormal macrophage count

description: An anomaly in the number of macrophages.


name: Abnormal erythrocyte UDP glucose-4-epimerase concentration

description: An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


Amegakaryocytic thrombocytopenia

description: Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.


Decreased hemoglobin concentration

description: An abnormal reduction below normal hemoglobin concentration in the circulation.


Increased Burr cell count

description: Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals.


Hyperchromic macrocytic anemia

description: A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin.


Abnormal neutrophil count

description: A deviation from the normal range of neutrophil cell counts in the circulation.


Low neutrophil alkaline phosphatase

description: An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme.


Congenital thrombocytopenia

description: Thrombocytopenia with congenital onset.


Infection associated neutropenia

description: Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan.


Increased circulating myelocyte count

description: The number of myelocytes in the peripheral blood circulation is above the upper limit of normal. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and secondary granules, and a nucleus:cytoplasm ratio of 2:1.


Anemia of inadequate production

description: A kind of anemia characterized by inadequate production of erythrocytes.


Reduction of neutrophil motility

description: An abnormal reduction of the cell motility of neutrophils.


Giant neutrophil granules

description: The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation.


Transient neutropenia

description: A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity.


name: Decreased erythrocyte UDP glucose-4-epimerase concentration

description: A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


Abnormal hematocrit

description: Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood.


Cold-induced hemolysis

description: A form of hemolytic anemia that can be triggered by cold temperatures.


Abnormal granulocyte morphology

description: Any structural abnormality or abnormal count of granulocytes.


Hemophagocytosis

description: Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.


Abnormal proerythroblast morphology

description: Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.


Abnormality of neutrophil physiology

description: A functional abnormality of neutrophils.


Megaloblastic erythroid hyperplasia

description: A laboratory test result indicating an abnormally high quantity of abnormal immature red blood cells with megaloblastic features.


normocytic anemia

description: Anemia in which the red blood cell volume is normal.


Leukocyte inclusion bodies

description: The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes.


Hepatic granulomatosis

description: The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.


Hepatic mastocytosis

description: Liver mast cell infiltration.


Granulocytosis

description: An increased count of granulocytes in the peripheral blood circulation.


Megaloblastic bone marrow

description: Abnormal increased number of megaloblasts in the bone marrow.


Chronic hemolytic anemia

description: An chronic form of hemolytic anemia.


Enlarged platelet dense granules

description: Increased size of platelet dense granules.


Abnormal basophil count

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


Abnormal dense granule content

description: A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated.


Increased neutrophil ribosomes

description: An increased number of ribosomes detected in neutrophils.


name: Elevated erythrocyte inosine triphosphate concentration

description: Concentration of inosine triphosphate in red blood cells is above the upper limit of normal.


Bone marrow hypocellularity

description: A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.


Bone marrow monocytosis

description: Increased count of monocytes in the bone marrow.


Abnormal dense tubular system

description: An anomaly of the intracellular membrane complexes known as the dense tubular system.


Drug-induced agranulocytosis

description: A type of agranulocytosis related to ingestion of a specific medication.


description: A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia.


Bone marrow vacuolated lymphocytes

description: The presence of lymphocytes with multilple vacuoles (a membrane-bound cell organelle) in the bone marrow.


Increased circulating band cell count

description: The number of band cells in the peripheral blood circulation is above the upper limit of normal. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small secondary granules, and a nucleus:cytoplasm ratio of 1:2.


Normochromic microcytic anemia

description: A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.


name: Reduced erythrocyte 2,3-diphosphoglycerate concentration

description: This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation.


Abnormal number of erythroid precursors

description: A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.


Reduced beta/alpha synthesis ratio

description: A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.


name: Bone marrow arrest at the promyelocytic stage

description: A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow.


name: Abnormal erythrocyte enzyme concentration or activity

description: An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme.


Increased hematocrit

description: An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.


Increased megakaryocyte count

description: Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.


Reduced platelet alpha granules

description: A reduced number of platelet alpha granules.


Pyknotic bone marrow neutrophils

description: Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments.


hemoglobinuria

description: A laboratory test result which indicates free hemoglobin in the urine.


Cerebral granulomatosis

description: Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.


Increased micromegakaryocyte count

description: The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter.


Abnormal platelet count

description: Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.


Exercise-induced hemolysis

description: A form of hemolytic anemia that can be triggered by exertion.


Reduced erythrocyte hexokinase activity

description: Activity or concentration of hexokinase (EC 2.7.1.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle.


Multinucleated erythroblast

description: Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis.


Granulocytic hypoplasia

description: Decreased number of granulocyte precursors in the bone marrow.


name: Impaired neutrophil killing of staphylococci

description: A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph.


Anisocytosis

description: Abnormally increased variability in the size of erythrocytes.


Abnormal dense granules

description: Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin.


name: Abnormal platelet dense granule ATP/ADP ratio

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


Abnormal granulocyte count

description: Any deviation from the normal cell count per volume of granulocytes in the blood circulation.


Imbalanced hemoglobin synthesis

description: Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia.


Blood group antigen abnormality

description: An abnormality of an erythrocyte cell surface molecule.


Impaired oxidative burst

description: In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.


Bite cells

description: Red blood cells that appear to have parts of them bitten away.


pseudolymphoma

description: A neoplastic process that resembles a malignant lymphoma, but has a benign course.


Neutrophil nuclear clefts

description: An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation.


Poikilocytosis

description: The presence of abnormally shaped erythrocytes.


Absent neutrophil specific granules

description: Lack of specific granules in neutrophils.


name: Abnormal mean corpuscular hemoglobin concentration

description: A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.


Abnormal macrophage morphology

description: An abnormality of macrophages.


malakoplakia

description: Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body.


Megakaryocyte dysplasia

description: The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei.


Transient erythroblastopenia

description: A transient reduction in the number of erythroblasts in the circulation.


xanthogranuloma

description: A reactive lesion characterized by the presence of a bland histiocytic cellular infiltrate admixed with giant cells.


Decreased mean corpuscular volume

description: A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).


Abnormal myeloid cell morphology

description: Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.


name: Increased circulating hemoglobin concentration

description: Concentration of hemoglobin in the blood circulation above the upper limit of normal.


Bone marrow erythroid vacuolization

description: Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of erythroid precursors in the bone marrow.


Heinz bodies

description: A type of erythrocyte inclusion composed of denatured hemoglobin.


Eosinophil nuclear hypersegmentation

description: An excessive division of the lobes of the nucleus of eosinophils. Eosinophils with more than two nuclear lobes are commonly regarded as hypersegmented, because seventy to ninety percent of peripheral blood eosinophils have two nuclear lobes.


Neutrophilia

description: Increased number of neutrophils circulating in blood.


Microspherocytosis

description: The presence of erythrocytes that are sphere-shaped and reduced in size.


Anisopoikilocytosis

description: A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.


name: Hyposegmentation of neutrophil nuclei in CSF

description: Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid.


name: Reduced erythrocyte bisphosphoglycerate mutase activity

description: Activity or concentration of bisphosphoglycerate mutase (BPGM; EC 5.4.2.4;) in red blood cells below the lower limit of normal. BPGM is a multifunctional enzyme specifically found in red blood cells that synthesizes 2,3-diphosphoglycerate through its synthase activity and degrades it through its phosphatase activity.


Episodic eosinophilia

description: Recurrent episodes of marked eosinophilia that resolve spontaneously.


description: A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine.


name: Reduced erythrocyte uroporphyrinogen III cosynthase activity

description: Activity or concentration of in the level of uroporphyrinogen III (EC 4.2.1.75) in erythrocytes below the lower limit of normal.


Reduced platelet dense granules

description: Decreased number of platelet dense granules, a type of platelet organelle.


Episodic hemolytic anemia

description: A form of hemolytic anemia that occurs in repeated episodes.


name: Increased red cell hemolysis by shear stress


name: Abnormal erythrocyte adenosine deaminase activity

description: Activity of adenosine deaminase in red blood cells outside the limits of normal.


Decreased basophil count

description: An abnormally reduced count of basophils per volume in the blood circulation.


name: Elevated red cell pyruvate kinase activity

description: Activity or concentration of pyruvate kinase (EC 2.7.1.40) in erythrocytes above the upper limit of normal. Pyruvate kinase (EC 2.7.1.40) is a glycolytic enzyme that catalyzes the transphosphorylation from phosphoenolpyruvate (PEP) to ADP, yielding pyruvate and ATP.


name: Abnormal erythrocyte adenosine triphosphate concentration

description: Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) outside of the normal range.


Bone marrow granuloma

description: A granuloma (a focal aggregate of immune cells that forms in response to a persistent inflammatory stimulus) localiyed to the bone marrow. A granuloma characteristically demonstrates the compact organization of mature macrophages, which may or may not be associated with other inflammatory cell types.


Granulomatosis

description: A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.


Abnormal number of dense granules

description: A deviation from the normal count of dense granules per thrombocyte.


Neutrophilia in absence of infection

description: An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders.


HbS hemoglobin

description: Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography.


Abnormal alpha granule content

description: A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor.


description: A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.


Splenic hemophagocytosis

description: Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the spleen.


Coombs-positive hemolytic anemia

description: A type of hemolytic anemia in which the Coombs test is positive.


name: Elevated erythrocyte galactose-1-phosphate concentration

description: Concentration of galactose-1-phosphate in red blood cells (erythrocytes) above the upper level of normal.


Abnormal microglia morphology

description: An abnormality of the microglial cells. They are also known as brain-resident macrophages or Hortega cells.


name: Increased megakaryocyte colony forming unit count

description: Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow.


Absent neutrophil lactoferrin

description: The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production.


Hypochromia

description: A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.


Persistence of hemoglobin F

description: Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.


name: Neutropenia in presence of anti-neutropil antibodies

description: A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.


Drug-sensitive hemolytic anemia

description: A form of hemolytic anemia that is triggered by ingestion of certain drugs.


hypochromic anemia

description: Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency.


Neutrophilia in presence of infection

description: An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus.


Abnormal number of alpha granules

description: A deviation from the normal count of alpha granules per thrombocyte.


Increased RBC distribution width

description: Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage.


Erythroid hypoplasia

description: Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.


name: Anemia due to reduced life span of red cells

description: A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.


Megakaryocyte nucleus hypolobulation

description: The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus.


Red blood cell keratocytosis

description: A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns.


Erythroid hyperplasia

description: Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.


Increased red blood cell mass

description: The presence of an increased mass of red blood cells in the circulation.


Abnormal alpha granules

description: Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury.


Bone marrow maturation arrest

description: Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow.


Abnormal megakaryocyte morphology

description: Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.


name: Elevated red cell adenosine deaminase activity

description: Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.


Reduced hematocrit

description: A reduction below the normal ratio of the volume of red blood cells to the total volume of blood.


Post-transfusion thrombocytopenia

description: Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages.


Abnormal alpha granule distribution

description: An anomalous location and arrangement of platelet alpha granules.


name: Reduced erythrocyte glutathione concentration

description: Concentration of glutathione in red blood cells below the lower limit of normal. Glutathione (GSH) is an important redox active biomolecule critical in the maintenance and regulation of cellular and organismal health.


name: Elevated erythrocyte adenosine triphosphate concentration

description: Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) above the upper limit of normal.


Bone-marrow foam cells

description: The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.


Urinary bladder granulomatosis

description: The presence of multiple granulomas in the urinary bladder as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.


pure red-cell aplasia

description: A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia.


Abnormal mean corpuscular volume

description: A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters.


Abnormal mast cell morphology

description: Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.


megaloblastic anemia, folate-responsive

description: A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate.


name: Decreased mean corpuscular hemoglobin concentration

description: A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.


Erythrocyte inclusion bodies

description: Nuclear or cytoplasmic aggregates of substances in red blood cells.


Spherocytosis

description: The presence of erythrocytes that are sphere-shaped.


Abnormal L-selectin shedding

description: An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection.


Chronic neutropenia

description: Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months.


name: Abnormality of bone marrow stromal cells


Abnormal eosinophil count

description: Any deviation from the normal number of eosinophils per volume in the blood circulation.


Abnormal neutrophil morphology

description: An abnormal form or size of neutrophils.


name: Hypersegmentation of neutrophil nuclei in CSF

description: An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid.


Lipid-laden bone-marrow macrophages

description: Bone marrow with increased numbers of macrophages heavily laden with lipids.


Abnormal monocyte count

description: An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.


name: Increased neutrophil nuclear projections

description: Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs.


Elevated hemoglobin A1c

description: An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.


Acanthocytosis

description: Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.


name: Reduced erythrocyte porphobilinogen deaminase activity

description: Activity or concentration of in the level of porphobilinogen deaminase (EC 4.3.1.8) in erythrocytes below the lower limit of normal.


name: Diminished neutrophil myeloperoxidase activity

description: Activity of the enzyme myeloperoxidase (EC 1.11.1.7) in neutrophils below the lower limit of normal. This feature can be measured by peroxidase cytochemistry or biochemical assays. Myeloperoxidase is a lysosomal hemoprotein located in the azurophilic granules of polymorphonuclear leukocytes and monocytes.


Mucinous histiocytosis

description: Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone.


name: Abnormality of neutrophil morphology in CSF

description: An abnormal form or size of neutrophils in the cerebrospinal fluid.


Impaired neutrophil chemotaxis

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


Circulating nucleated red blood cells

description: The presence of nucleated red blood cells in the peripheral blood circulation.


name: Non-caseating epithelioid cell granulomatosis

description: The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese).


Abnormal platelet granules

description: An anomaly of alpha or dense granules or platelet lysosomes.


name: Abnormal granulocytopoietic cell morphology

description: An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.


Intermittent thrombocytopenia

description: Reduced platelet count that occurs sporadically, i.e., it comes and goes.


name: Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity

description: Activity or concentration of in the level of galactose-1-phosphate uridylyltransferase (GALT; EC 2.7.7.12) in erythrocytes below the lower limit of normal.


Steroid-responsive anemia

description: Amelioration of anemia upon treatment with a steroid medication.


Stomatocytosis

description: The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.


Rouleaux formation

description: Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells.


name: Abnormality of multiple cell lineages in the bone marrow


Abnormal erythrocyte morphology

description: Any structural abnormality of erythrocytes (red-blood cells).


Monocytosis

description: An increased number of circulating monocytes.


Gastrointestinal granulomatosis

description: The presence of multiple granulomas in the gastrointestinal tract (Pylorus, esophagus, jejunum, ileum, cecum, rectum, perirectal area, esophagus) as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.


name: Reduced erythrocyte adenosine triphosphate concentration

description: Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) below the lower limit of normal.


Abnormal basophil morphology

description: Any structural abnormality or abnormal count of basophils.


Giant platelets

description: Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).


Refractory sideroblastic anemia

description: A type of sideroblastic anemia that is not responsive to treatment.


Increased urine neutrophil count

description: Abnormally increased count of neutrophils in urine.


Polychromasia

description: Increased variation in the color of the erythrocytes (red blood cells), including pale red, normal or dark colors, indicating a highly variable hemoglobin concentration. Typically this indicates the release of immature erythrocytes in states of anemia.


Decreased eosinophil count

description: Abnormal reduction in the count of eosinophils in the blood per volume.


name: Abnormal surface-connected open canalicular system

description: An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction.


Abnormal myeloid leukocyte morphology

description: An abnormality of myeloid leukocytes.


Erythroid dysplasia

description: Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts.


Reduced erythrocyte arginase activity

description: Activity or concentration of arginase (EC 3.5.3.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle.


Abnormality of neutrophils

description: A neutrophil abnormality.


Abnormal platelet shape

description: A deviation from the normal discoid platelet shape.


Abnormal hemoglobin concentration

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


Abnormal eosinophil morphology

description: An abnormal count or structure of eosinophils.


Increased red blood cell count

description: An abnormal elevation above the normal number of red blood cells per volume in the circulation.


Abnormal hemoglobin

description: Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.


Hepatic hemophagocytosis

description: Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the liver.


Reduced bone-marrow pro-B cell count

description: A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19.


Fava bean-induced hemolytic anemia

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


Megakaryocyte nucleus hyperlobulation

description: The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus.


Howell-Jolly bodies

description: Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets.


Hypersegmentation of neutrophil nuclei

description: An excessive division of the lobes of the nucleus of a neutrophil.


Abnormal platelet morphology

description: An anomaly in platelet form, ultrastructure, or intracellular organelles.


name: Abnormal number of granulocyte precursors


Neutrophil inclusion bodies

description: The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies.


name: Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity

description: Activity or concentration of fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) in red blood cells below the lower limit of normal.


Sickled erythrocytes

description: An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains).


Decreased red blood cell count

description: An abnormal reduction below the normal number of red blood cells per volume in the circulation.


name: Reduced erythrocyte gamma-glutamyl cysteine synthetase activity

description: Activity of gamma-glutamylcysteine synthetase (EC 6.3.2.2) in erythrocytes below the lower limit of normal.


Normocytic hypoplastic anemia

description: A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits).


Abnormal red blood cell count

description: Any deviation from the normal number of red blood cells per volume in the circulation.


Monocytopenia

description: An decreased number of circulating monocytes.


name: Cyclic neutropenia in myeloid maturation arrest in bone marrow

description: Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.


Reticulocytopenia

description: A reduced number of reticulocytes in the peripheral blood.


Bone marrow myeloid vacuolization

description: Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of myeloid precursors in the bone marrow.


Bone marrow xanthomatosis

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


name: Increased circulating immature neutrophil count

description: An abnormally increased number of immature neutrophils in the peripheral blood circulation.


Bone marrow hypercellularity

description: A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.


Oval macrocytosis

description: Enlarged, oval-shaped erythrocytes (red blood cells).


heparin-induced thrombocytopenia

description: Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis.


name: Increased erythrocyte UDP glucose-4-epimerase concentration

description: An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


Platelet anisocytosis

description: Abnormally increased variability in the size of platelets.


Abnormal monocyte morphology

description: Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.


name: Absence of Lutheran antigen on erythrocytes

description: Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells.


name: Impaired neutrophil bactericidal activity

description: A reduction in the ability of neutrophils to kill bacteria.


Target cells

description: Target cells (codocytes) have a centrally located disk of hemoglobin surrounded by an area of pallor with an outer rim of hemoglobin adjacent to the cell membrane giving the cell the appearance of a target.


Reduced alpha/beta synthesis ratio

description: A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia.


Myeloid maturation arrest

description: Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.


Anemic pallor

description: A type of pallor that is secondary to the presence of anemia.


Hypereosinophilia

description: A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter.


Increased neutrophil mitochondria

description: An increased number of mitochondria detected in neutrophils.


name: Abnormal erythrocyte metabolite concentration

description: A deviation from the normal range of a metabolite in red blood cells.


Bone marrow eosinophilia

description: Count of eosinophils in the bone marrow above the upper limit of normal.


Increased basophil count

description: An abnormally increased count of basophils per volume in the blood circulation.


name: Reduced erythrocyte inosine triphosphatase activity

description: Activity or concentration of inosine triphosphate pyrophosphohydrolase (EC 3.6.1.19) in red blood cells below the lower limit of normal.


Schistocytosis

description: The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.


name: Increased mean corpuscular hemoglobin concentration

description: An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell).


Hemoglobin Barts

description: Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.


HbC hemoglobin

description: Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis.


name: Increased circulating metamyelocyte count

description: The number of metamyelocytes in the peripheral blood circulation is above the upper limit of normal. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with secondary granules, and a nucleus:cytoplasm ratio of 1.5:1.


Lymph-node hemophagocytosis

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


name: Abnormal morphology of erythroid progenitor cell

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


Reduced red cell pyruvate kinase level

description: Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate.


Increased mean platelet volume

description: Average platelet volume above the upper limit of the normal reference interval.


Reduced bone-marrow megakaryocyte size

description: Decreased in average size (diameter) of megakaryocytes in the bone marrow. Megakaryocyte diameter can be assessed as using automated cellular imaging systems.


Increased mean corpuscular volume

description: Larger than normal size of erythrocytes.


Agranulocytosis

description: Marked decrease in the number of granulocytes.


description: A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.


Abnormal platelet volume

description: Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.


name: Reduced red cell adenosine deaminase level

description: Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.


Sterile pyuria

description: Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria.


name: Abnormal erythroid lineage cell morphology

description: An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.


Megakaryocytopenia

description: A reduced count of megakaryocytes.


name: Reduced erythrocyte adenylate kinase activity

description: Activity or concentration of in the level of adenylate kinase (EC 2.7.4.3) in erythrocytes below the lower limit of normal. Adenylate kinase is a ubiquitous monomeric enzyme that catalyzes the reversible conversion of MgATP plus AMP to MgADP plus ADP and contributes to homeostasis of the adenine nucleotide composition in the cell.


Abnormal reticulocyte morphology

description: A reticulocyte abnormality.


Absence of alpha granules

description: A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears.


CSF hemophagocytosis

description: Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the cerebrospinal fluid (CSF).


Increased bone marrow iron

description: An increased amount of iron in the bone marrow.


Dacryocytosis

description: Presence of teardrop-shaped red blood cells.


Reduced hemoglobin A

description: Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia.


name: Increased multinucleated megakaryocyte count

description: The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow.


Pappenheimer bodies

description: A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain).


Decreased mean platelet volume

description: Average platelet volume below the lower limit of the normal reference interval.


name: Reduced erythrocyte glutathione reductase activity

description: Activity of glutathione reductase (EC 1.6.4.2) in erythrocytes below the lower limit of normal.


conjunctival vascular disorder

description: A disorder of the vasculature of the cornea.


Fatty casts

description: A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarized light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses.


name: infiltrating bladder urothelial carcinoma sarcomatoid variant

description: An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features.


name: infiltrating bladder urothelial carcinoma

description: An invasive transitional cell carcinoma that arises from the urinary bladder urothelium.


name: lymphoma-like variant infiltrating bladder urothelial carcinoma


name: plasmacytoid variant infiltrating bladder urothelial carcinoma

description: Invasive bladder urothelial carcinoma characterized by the presence of malignant cells with plasmacytoid features.


name: microcystic variant infiltrating bladder urothelial carcinoma

description: Invasive bladder urothelial carcinoma characterized by microcysts formation.


name: infiltrating bladder urothelial carcinoma, clear cell variant

description: An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells.


name: nested variant infiltrating bladder urothelial carcinoma

description: Invasive bladder urothelial carcinoma characterized by a nested growth pattern.


name: micropapillary variant infiltrating bladder urothelial carcinoma

description: An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003


name: infiltrating bladder lymphoepithelioma-like carcinoma

description: Invasive bladder urothelial carcinoma with lymphoepithelioma-like features.


name: lipid-cell variant infiltrating bladder urothelial carcinoma

description: Invasive bladder urothelial carcinoma characterized by the presence of lipid laden tumor cells.


name: Cardiovascular System Signs and Symptoms


Heart murmur

description: An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.


Atypical angina

description: Angina pectoris which does not have associated classical symptoms of chest pain. Symptoms may include weakness, nausea, or sweating.


Palpitations

description: A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.


Invasive Tubular Urothelial Carcinoma

description: Invasive urothelial carcinoma characterized by the presence of a tubular growth pattern.


name: Invasive Bladder Tubular Urothelial Carcinoma

description: Invasive bladder urothelial carcinoma characterized the presence of a tubular growth pattern.


infective endocarditis

description: Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue.


endocarditis

description: Inflammation of the endocardium.


mycotic endocarditis

description: An endocarditis (disease) caused by infection with Fungi.


Libman-Sacks endocarditis

description: An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease.


marantic endocarditis

description: Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia).


subacute bacterial endocarditis

description: Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between "acute" and "subacute" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation.


bacterial endocarditis

description: Endocarditis that is caused by an infection with a bacterial agent.


polyp of sphenoidal sinus

description: A polyp that involves the sphenoidal sinus.


Limited neck extension

description: Reduced abilty to move the head back towards the ceiling so that one is looking upwards.


Stiff neck

description: A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side.


Limited neck flexion

description: Reduced abilty to lower the chin towards the chest by bending the neck.


Limited head rotation

description: Reduced range of motion turning the head side to side.


Limited lateral neck flexion

description: Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder.


Oxycephaly

description: Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.


Periodic hypokalemic paresis

description: Episodes of muscle weakness associated with reduced levels of potassium in the blood.


periodic paralysis

description: Episodes of muscle weakness.


acute hemorrhagic conjunctivitis

description: Acute conjunctivitis that is characterized by bleeding into the conjunctiva.


viral conjunctivitis

description: Conjunctivitis resulting from viral infection.


epidemic keratoconjunctivitis

description: Keratoconjunctivitis resulting from infection by adenoviruses.


name: congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements

description: Congenital/infantile spindle cell rhabdomyosarcoma characterized by the presence of gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes.


spindle cell synovial sarcoma

description: A synovial sarcoma characterized by the presence of a spindle cell component only.


intimal sarcoma

description: A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor.


childhood spindle cell rhabdomyosarcoma

description: A spindle cell rhabdomyosarcoma occurring in children.


spindle cell rhabdomyosarcoma

description: An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck.


name: intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements

description: Intraosseous spindle cell rhabdomyosarcoma characterized by the fusion of the EWSR1 or FUS gene with the TFCP2 gene, or the MEIS1 gene with the NCOA2 gene.


spindle cell liposarcoma

description: A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma.


Abnormal alveolar ridge morphology

description: Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.


Alveolar process hypoplasia

description: Underdevelopment of the alveolar process (also known as alveolar bone).


Bilateral alveolar cleft of maxilla

description: Nonmidline alveolar cleft of the maxilla.


Complete cleft maxillary alveolar ridge

description: Cleft maxillary alveolar ridge in which the cleft goes through the entire length of the maxillary alveolar ridge.


name: Incomplete cleft maxillary alveolar ridge

description: Cleft maxillary alveolar ridge in which the cleft does not go through the entire length of the maxillary alveolar ridge.


Fibrous syngnathia

description: Complete or nearly complete soft tissue fusion of the alveolar ridges.


Cleft maxillary alveolar ridge

description: A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine.


Alveolar ridge overgrowth

description: Increased width of the alveolar ridges.


Unilateral alveolar cleft of maxilla

description: One sided alveolar cleft of the maxilla.


cervical fibroepithelial polyp

description: A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium.


sterol biosynthesis disorder

description: An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process.


name: cholesterol biosynthetic process disease

description: A disease that has its basis in the disruption of cholesterol biosynthetic process.


name: Recurrent Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted

description: The reemergence of oligodendroglioma, IDH-mutant and 1p/19q-codeleted after a period of remission.


name: duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery


name: xeroderma pigmentosum, autosomal dominant, mild


Anti-ADAMTS13 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against A Disintegrin and Metalloprotease with ThromboSpondin type 1 repeats, member 13 (ADAMTS13).


name: partial deletion of the short arm of chromosome 3


3p25.3 microdeletion syndrome

description: A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.


Increased lymphocyte apoptosis

description: A elevation in the rate of apoptosis in lymphocytes.


name: Reduced CD95-induced lymphocyte apoptosis

description: Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells.


Abnormal lymphocyte apoptosis

description: A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes.


Decreased lymphocyte apoptosis

description: A reduction in the rate of apoptosis in lymphocytes.


name: Small intestinal lymphoplasmacytic infiltrate

description: Infiltration of the wall of the small intestine by lymphocytes and mature plasma cells.


Heberden's node

description: Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis.