Stage IV Thyroid Gland Follicular Carcinoma AJCC v7

Stage IV includes: IVA (T4a, N0, M0); (T4a, N1a, M0); (T1, N1b, M0); (T2, N1b, M0); (T3, N1b, M0); (T4a, N1b, M0); IVB (T4b, Any N, M0); IVC (Any T, Any N, M1). T4a: Moderately advanced local disease.  Tumor of any size extending beyond the thyroid gland capsule to invade subcutaneous soft tissues, larynx, trachea, esophagus, or recurrent laryngeal nerve. T1: Tumor size 2 cm or less in greatest dimension, limited to the thyroid gland.  T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension, limited to the thyroid gland.  T3: Tumor more than 4 cm in greatest dimension and limited to the thyroid gland, or tumor of any size with minimal extrathyroid extension (e.g., extension to sternothyroid muscle or perithyroid soft tissues).  T4b: Very advanced disease.  Tumor invades prevertebral fascia or encases carotid artery or mediastinal vessels.  N0: No regional lymph node metastasis.  N1a: Metastasis to pretracheal, paratracheal or prelaryngeal/Delphian lymph nodes (Level VI lymph nodes).  N1b: Metastasis to unilateral, bilateral or contralateral cervical (Levels I, II, III, IV, or V) or retropharyngeal or superior mediastinal lymph nodes (Level VII).  M0: No distant metastasis.  M1: Distant metastasis. (AJCC 7th ed.)


Stage IVA Differentiated Thyroid Gland Carcinoma AJCC v7

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Stage IVA includes: (T4a, N0, M0); (T4a, N1a, M0); (T1, N1b, M0); (T2, N1b, M0); (T3, N1b, M0); (T4a, N1b, M0). T4a: Moderately advanced local disease.  Tumor of any size extending beyond the thyroid gland capsule to invade subcutaneous soft tissues, larynx, trachea, esophagus, or recurrent laryngeal nerve.  T1: Tumor size 2 cm or less in greatest dimension, limited to the thyroid gland.  T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension, limited to the thyroid gland.  T3: Tumor more than 4 cm in greatest dimension and limited to the thyroid gland, or tumor of any size with minimal extrathyroid extension (e.g., extension to sternothyroid muscle or perithyroid soft tissues).  N0: No regional lymph node metastasis.  N1a: Metastasis to pretracheal, paratracheal or prelaryngeal/Delphian lymph nodes (Level VI lymph nodes).  N1b: Metastasis to unilateral, bilateral or contralateral cervical (Levels I, II, III, IV, or V) or retropharyngeal or superior mediastinal lymph nodes (Level VII).  M0: No distant metastasis. (AJCC 7th ed.)


Stage II Thyroid Gland Medullary Carcinoma AJCC v8

Stage II includes: (T2, N0, M0); (T3, N0, M0). T2: Tumor measuring more than 2 cm but less than 4 cm in greatest dimension limited to the thyroid. T3: Tumor measuring 4 cm or more in greatest dimension or with extrathyroidal extension. N0: No evidence of locoregional lymph node metastasis. M0: No distant metastasis. (from AJCC 8th Ed.)


subglottis verrucous carcinoma

An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the subglottic area of the larynx.


Stage I Hypopharyngeal Carcinoma AJCC v8

Stage I includes: T1, N0, M0. T1: Tumor limited to one subsite of hypopharynx and/or 2 cm or smaller in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


hypopharyngeal carcinoma

Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx.


Stage IVA Laryngeal Squamous Cell Carcinoma AJCC v7

Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); T4a: Supraglottis: Moderately advanced local disease.  Tumor invades through the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscle of the tongue, strap muscles, thyroid, or esophagus). Glottis: Moderately advanced local disease. Tumor invades through the outer cortex of the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). Subglottis: Moderately advanced local disease.  Tumor invades cricoid or thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus).  N0: No regional lymph node metastasis.  N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension.  N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IVC Thyroid Gland Undifferentiated (Anaplastic) Carcinoma AJCC v7

Stage IVC includes: Any T, Any N, M1.  M1: Distant metastasis.  (AJCC 7th ed.)


poorly differentiated thyroid gland carcinoma

An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)


Stage IV Laryngeal Carcinoma

A carcinoma that arises from the larynx and has metastasized to another anatomic site.


Stage IV Pharynx Carcinoma

Stage IV carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.


Locally Advanced Laryngeal Squamous Cell Carcinoma

Laryngeal squamous cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Stage IVB Thyroid Gland Papillary Carcinoma AJCC v7

Stage IVB includes: T4b, Any N, M0. T4b: Very advanced disease. Tumor invades prevertebral fascia or encases carotid artery or mediastinal vessels. M0: No distant metastasis. (AJCC 7th ed.)


Metastatic Thyroid Gland Medullary Carcinoma

A thyroid gland medullary carcinoma that has spread from the original site of growth to another anatomic site.


Locally Advanced Nasopharyngeal Squamous Cell Carcinoma

Nasopharyngeal squamous cell carcinoma that has spread to nearby tissues or lymph nodes.


The reemergence of undifferentiated carcinoma of the nasopharynx after a period of remission.


Unresectable Differentiated Thyroid Gland Carcinoma

Differentiated thyroid gland carcinoma that is not amenable to surgical resection.


Oropharyngeal Carcinoma by AJCC v6 Stage

A term that refers to the staging of oropharyngeal carcinoma according to the American Joint Committee on Cancer, 6th edition.


larynx verrucous carcinoma

A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction.


Sporadic Thyroid Gland Medullary Carcinoma

A non-hereditary medullary carcinoma of the thyroid gland not associated with multiple endocrine neoplasia.  The majority of thyroid gland medullary carcinomas are sporadic.


Stage I Thyroid Gland Medullary Carcinoma AJCC v7

Stage I includes: T1, N0, M0.  T1: Tumor size 2 cm or less in greatest dimension, limited to the thyroid gland.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Hobnail Variant Thyroid Gland Papillary Carcinoma

A rare variant of papillary thyroid gland carcinoma in which more than 30% of cells have hobnail features. (WHO)


Recurrent Thyroid Gland Papillary Carcinoma

The reemergence of thyroid gland papillary carcinoma after a period of remission.


Advanced Thyroid Gland Medullary Carcinoma

Thyroid gland medullary carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Stage III Laryngeal Verrucous Carcinoma AJCC v6 and v7

Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0).  T1: Supraglottis: Tumor limited to one subsite of supraglottis with normal vocal cord mobility. Glottis: Tumor limited to the vocal cord(s) (may involve anterior or posterior commissure) with normal mobility.  Subglottis: Tumor limited to the subglottis.  T2: Supraglottis: Tumor invades mucosa of more than one adjacent subsite of supraglottis or glottis or region outside the supraglottis (e.g., mucosa of base of tongue, vallecula, medial wall of pyriform sinus) without fixation of the larynx.  Glottis: Tumor extends to supraglottis and/or subglottis, and/or with impaired vocal cord mobility.  Subglottis: Tumor extends to vocal cord(s) with normal or impaired mobility. T3: Supraglottis: Tumor limited to larynx with vocal cord fixation and/or invades any of the following: postcricoid area, pre-epiglottic tissues, paraglottic space, and/or inner cortex of thyroid cartilage.  Glottis: Tumor limited to the larynx with vocal cord fixation and/or invasion of paraglottic space, and/or inner cortex of the thyroid cartilage.  Subglottis: Tumor limited to larynx with vocal cord fixation.  N0: No regional lymph node metastasis.  N1: Metastasis in a single ipsilateral lymph node, 3cm or less in greatest dimension.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


Childhood Nasopharyngeal Carcinoma

A nasopharyngeal carcinoma that occurs during childhood.


Nasopharyngeal squamous cell carcinoma recurrent

The reemergence of squamous cell carcinoma of the nasopharynx after a period of remission.


Stage III Nasopharyngeal Carcinoma

Stage III includes: (T1, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N0, M0); (T3, N1, M0); (T3, N2, M0).  T3: Tumor involves bony structures and/or paranasal sinuses. N2: Bilateral metastasis in lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa. M0: No distant metastasis. (AJCC 6th ed.)


Macrofollicular Variant Thyroid Gland Papillary Carcinoma

A morphologic variant of papillary carcinoma of the thyroid gland characterized by the predominance or the exclusive presence of macrofollicles.  Some of the malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland.


Nasopharyngeal Carcinoma by AJCC v8 Stage

A term that refers to the staging of nasopharyngeal carcinoma according to the American Joint Committee on Cancer, 8th edition.


multicentric papillary thyroid carcinoma

A papillary carcinoma arising from the thyroid gland from multiple foci.


glottis carcinoma

A carcinoma that arises from epithelial cells of the glottis.


Metastatic Nasopharyngeal Keratinizing Squamous Cell Carcinoma

A keratinizing squamous cell carcinoma that arises from the nasopharynx and has metastasized to another anatomic site.


Advanced Nasopharyngeal Carcinoma

Nasopharyngeal carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Nasopharyngeal Carcinoma by AJCC v6 Stage

A term that refers to the staging of nasopharyngeal carcinoma according to the American Joint Committee on Cancer, 6th edition.


Locally Advanced Hypopharyngeal Carcinoma

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


Resectable Oropharyngeal Undifferentiated Carcinoma

Oropharyngeal undifferentiated carcinoma that is amenable to surgical resection.


Stage III Pharynx Carcinoma

Stage III carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.


Stage III Differentiated Thyroid Gland Carcinoma AJCC v8

Stage III includes: 55 years and older: T4a, Any N, M0. T4a: Gross extrathyroidal extension invading subcutaneous soft tissues, larynx, trachea, esophagus, or recurrent laryngeal nerve from a tumor of any size. M0: No distant metastasis. (from AJCC 8th Ed.)


Thyroid Gland Medullary Carcinoma by AJCC v8 Stage

A term that refers to the staging of thyroid gland medullary carcinoma, following the rules of the TNM AJCC v8 classification system. Differentiated and anaplastic thyroid gland carcinomas are staged according to the classification for thyroid-differentiated and anaplastic carcinoma. (from AJCC 8th Ed.)


Stage IVC Thyroid Gland Medullary Carcinoma AJCC v8

Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (from AJCC 8th Ed.)


Advanced Hypopharyngeal Squamous Cell Carcinoma

A squamous cell carcinoma of the hypopharynx that has spread extensively to other anatomic sites or is no longer responding to treatment.


Clinical Stage II HPV-Mediated (p16-Positive) Oropharyngeal Carcinoma AJCC v8

Stage II includes: (T0, N2, M0); (T1, N2, M0) ;(T2, N2, M0); (T3, N0, M0); (T3, N1, M0); (T3, N2, M0). T0: No primary identified. T1: Tumor 2 cm or smaller in greatest dimension. T2: Tumor larger than 2 cm but not larger than 4 cm in greatest dimension. T3: Tumor larger than 4 cm in greatest dimension or extension to lingual surface of epiglottis. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or more ipsilateral lymph nodes, none larger than 6 cm. N2: Tumor with contralateral or bilateral lymph nodes metastasis, none larger than 6 cm. M0: No distant metastasis. (AJCC 8th ed.)


Stage II Pharynx Carcinoma

Stage II carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.


Thyroid Gland Anaplastic Carcinoma, Osteoclastic Variant

An extremely rare morphologic variant of anaplastic carcinoma of the thyroid gland, characterized by the presence of large numbers of non-neoplastic, osteoclast-like giant cells.


Stage IV Oropharyngeal (p16-Negative) Carcinoma AJCC v8

Stage IV includes: IVA: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB: (Any T, N3, M0); (T4b, Any N, M0); IVC: (Any T, Any N, M1). T4a: Moderately advanced local disease. Tumor invades the larynx, extrinsic muscle of tongue, medial pterygoid, hard palate, or mandible. Mucosal extension to lingual surface of epiglottis from primary tumors of the base of the tongue and vallecula does not constitute invasion of the larynx. T1: Tumor 2 cm or smaller in greatest dimension. T2: Tumor larger than 2 cm but not larger than 4 cm in greatest dimension. T3: Tumor larger than 4 cm in greatest dimension or extension to lingual surface of epiglottis. T4b: Very advanced local disease. Tumor invades lateral pterygoid muscle, pterygoid plates, lateral nasopharynx, or skull base or encases carotid artery. N0: No regional lymph node metastasis. N1: Tumor with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE (-). N2: Tumor with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(+); or larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). N3: Tumor with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or metastasis in a single ipsilateral lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral lymph nodes any with ENE(+). M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


Locally Advanced Thyroid Gland Medullary Carcinoma

Thyroid gland medullary carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Stage I Differentiated Thyroid Gland Carcinoma Under 55 Years AJCC v8

Stage I includes: Any T, Any N, M0. M0: No distant metastasis. (from AJCC 8th Ed.)


Unresectable Hereditary Thyroid Gland Medullary Carcinoma

Hereditary thyroid gland medullary carcinoma that is not amenable to surgical resection.


Stage IVA Thyroid Gland Papillary Carcinoma AJCC v7

Stage IVA includes: (T4a, N0, M0); (T4a, N1a, M0); (T1, N1b, M0); (T2, N1b, M0); (T3, N1b, M0); (T4a, N1b, M0). T4a: Moderately advanced local disease. Tumor of any size extending beyond the thyroid gland capsule to invade subcutaneous soft tissues, larynx, trachea, esophagus, or recurrent laryngeal nerve. T1: Tumor size 2 cm or less in greatest dimension, limited to the thyroid gland. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension, limited to the thyroid gland. T3: Tumor more than 4 cm in greatest dimension and limited to the thyroid gland, or tumor of any size with minimal extrathyroid extension (e.g., extension to sternothyroid muscle or perithyroid soft tissues). N0: No regional lymph node metastasis. N1a: Metastasis to pretracheal, paratracheal or prelaryngeal/Delphian lymph nodes (Level VI lymph nodes). N1b: Metastasis to unilateral, bilateral or contralateral cervical (Levels I, II, III, IV, or V) or retropharyngeal or superior mediastinal lymph nodes (Level VII). M0: No distant metastasis. (AJCC 7th ed.)


paracardiac lymph node

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central nervous system fibrosarcoma

A usually aggressive malignant neoplasm arising from the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.


fibrosarcoma

A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone.


liver fibrosarcoma

A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.


Unresectable Myxofibrosarcoma

A myxofibrosarcoma that is not amenable to surgical resection.


Sinonasal Fibrosarcoma

A fibrosarcoma that arises from the nasal cavity and paranasal sinuses.


small intestinal fibrosarcoma

A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.


kidney fibrosarcoma

A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.


Cardiac Myxofibrosarcoma

A low-grade sarcoma that arises from the heart. It is composed of spindle or rounded cells in a myxoid stroma. The most common location is the left atrium.


breast fibrosarcoma

A usually aggressive malignant neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.


Myxofibrosarcoma of skin

Myxofibrosarcoma that arises from the dermis.


Metastatic Myxofibrosarcoma

Myxofibrosarcoma that has spread from its original site of growth to another anatomic site.


Epithelioid myxofibrosarcoma

A rare subtype of myxofibrosarcoma composed predominantly of malignant epithelioid cells with abundant eosinophilic cytoplasm.


fibrosarcoma of ovary

A usually aggressive malignant neoplasm arising from the ovary.  It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.


Myxoinflammatory fibroblastic sarcoma

A low grade, locally aggressive, fibroblastic neoplasm that occurs primarily in the distal extremities.  It is characterized by the presence of spindle-shaped fibroblasts, multivacuolated lipoblast-like cells, bizarre ganglion-like cells with inclusion-like nuclei, myxoid stroma formation, and a mixture of acute and chronic inflammatory cells.  Distant metastases are very rare.


heart fibrosarcoma

A usually aggressive malignant neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.


myxofibrosarcoma

A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma.


Locally Advanced Myxofibrosarcoma

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


Oral Cavity Low Grade Myofibroblastic Sarcoma

Myofibroblastic sarcoma arising from the oral cavity.


Advanced Myxofibrosarcoma

Myxofibrosarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


mating-type a-factor pheromone receptor activity

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Combining with the mating-type a-factor pheromone to initiate a change in cell activity.


hereditary persistence of fetal hemoglobin

The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin.


respiratory distress syndrome in premature infants

Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.


familial hypocalciuric hypercalcemia

Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.


Rajab interstitial lung disease with brain calcifications 2


primary pulmonary diffuse large B-cell lymphoma

A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis.


pneumonia caused by pseudomonas aeruginosa infection

A rare pulmonary disease characterized by primary or nonbacteremic pneumonia most frequently arising in an intensive care setting, or bacteremic pneumonia, which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis, and, eventually, cavity formation, are commonly seen.


non-specific interstitial pneumonia

Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia.


primary interstitial lung disease specific to childhood


lung sclerosing hemangioma

A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic.


lung papilloma

A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction.


silicotuberculosis

Tuberculosis caused by the infection of Mycobacterium tuberculosis in patients with silicosis (that is caused by inhalation of silica dust particles). The risk of a patient with silicosis developing pulmonary tuberculosis and extra-pulmonary tuberculosis is higher than in healthy population.


cork-handlers' disease

An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia.


non-small cell squamous lung carcinoma

A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma.


pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8


lung large cell carcinoma

A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection.


mushroom workers' lung

An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes.


pneumoconiosis

An occupational lung disorder caused by inhalation of dust particles. It is characterized by bilateral interstitial lung infiltrates. Representative examples include asbestosis, silicosis, anthracosis, and talc pneumoconiosis.


mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma

A rare morphologic variant of bronchiolo-alveolar lung carcinoma characterized by the presence of both mucin and non-mucin producing cells.


pneumonic plague

A plague in which the bacteria have infected the lungs.


clear cell-sugar-tumor of the lung

A rare benign lung tumor with perivascular epithelioid cell differentiation. It is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. The vast majority of patients are asymptomatic and the tumors are discovered incidentally. Excision is curative.


pleuropulmonary blastoma type 2

A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course.


Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.


acute bronchiolitis

Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus.


autoimmune pulmonary alveolar proteinosis

Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS).


pulmonary non-tuberculous mycobacterial infection


respiratory syncytial virus bronchiolitis

Bronciolitis caused by infection with respiratory syncytial virus.


pleuropneumonia

Inflammation of the lung parenchyma that is associated with pleurisy, inflammation of the pleura.


large cell carcinoma with rhabdoid phenotype

A rare poorly differentiated morphologic variant of large cell lung carcinoma characterized by the presence of rhabdoid cells.


Langerhans cell histiocytosis specific to adulthood

Langerhans cell histiocytosis that occurs during adulthood.


toxic bronchiolitis

Bronchiolitis as a response to a toxic exposure.


chronic bronchitis

A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath.


staphylococcus aureus pneumonia

An pneumonia caused by infection with Staphylococcus aureus.


pulmonary interstitial glycogenosis

Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD).


pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7


pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2


acute fibrinous and organizing pneumonia

A rare pulmonary disease with histological pattern of interstitial pneumonitis characterized by the deposit of intra-alveolar fibrin and diffuse organizing pneumonia within the alveolar ducts and bronchioles, with large etiological spectra.


diffuse panbronchiolitis

Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis


combined small cell lung carcinoma

A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma.


endobronchial leiomyoma

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


lung leiomyoma

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


A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation.


Legionnaires' disease

A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations.


dystrophic pulmonary ossification

A rare lung disorder characterized by ectopic bone formation within lung parenchyma. DPO can be idiopathic or associated with a variety of cardiovascular, respiratory diseases or other disorders. There are mainly two forms of DPO: nodular and dendriform.


pneumonia caused by chlamydia

An pneumonia caused by infection with Chlamydia.


epithelial predominant pulmonary blastoma

A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma.


acinar lung adenocarcinoma

A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05)


baritosis

A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops.


lung hilum neoplasm

A benign or malignant neoplasm that arises from the hilar region of the lung.


invasive aspergillosis

An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.


fibroma of lung

A fibroma that involves the lung.


toxic bronchiolitis obliterans

Toxic bronchiolitis whereby a biospy has shown an obliteration of broncioles.


lung hilum carcinoma

A lung carcinoma arising from the hilum of the lung.


alveoli adenoma

A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative.


contagious pleuropneumonia

A pleuropneumonia of cattle and goats caused by species of mycoplasma.


lung adenocarcinoma

A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor.


chronic pneumonitis of infancy

Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD).


idiopathic bronchiectasis

Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).


basaloid large cell lung carcinoma

A morphologic variant of large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis.


asbestosis

A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain.


bronchus adenoma

A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative.


Hermansky-Pudlak syndrome 4

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene.


pleuropulmonary blastoma type 3

A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course.


classic pulmonary blastoma

A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements.


pneumoconiosis due to talc

Pneumoconiosis caused by exposure to talc. It is characterized by fibrosis and granulomatous changes in the lung parenchyma. Chest x-rays reveal diffuse lung opacities and pleural abnormalities.


malignant superior sulcus neoplasm

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


lung neuroendocrine neoplasm

A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma.


aspiration pneumonitis

Inflammation of the lungs due to the inhalation of solid or liquid material.


pulmonary large cell neuroendocrine carcinoma

A large cell neuroendocrine carcinoma that involves the lung(s).


congenital emphysematous lung disease due to Filamin A loss-of-function variant

Any interstitial lung disease specific to childhood caused by a loss-of-function variation in the FLNA gene. Female children are reported more often. Rare male patients with loss-of-function FLNA mutation-associated lung disease with residual protein function can survive into infancy with a severe form of the phenotype.


pulmonary mucoepidermoid carcinoma

A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells.


asbestos-related lung carcinoma

A carcinoma arising in the lung due to exposure to asbestos.


pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

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


diffuse pulmonary fibrosis

Diffuse replacement of the lung tissue by connective tissue.


hamartoma of lung

A hamartoma (disease) that involves the lung.


pulmonary hemosiderosis

A respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.


lung mixed small cell and squamous cell carcinoma

A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma.


kaolin pneumoconiosis

Pneumoconiosis caused by inhalation of kaolin dust.


respiratory bronchiolitis-interstitial lung disease syndrome

Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening.


pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome

Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named Btrimorphic syndromeB (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.


persistent tachypnoe of infancy, aberrant

Persistent tachypnoe of infancy that presents with additional minor abnormalities upon scanning, including ground-glass opacities in other locations, focal consolidations, parenchymal cysts or bronchial wall thickening (N=80; 37%).


bronchiectasis with or without elevated sweat chloride 2

Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene.


vanishing lung syndrome

A rare form of irreversible damage to the pulmonary parenchyma often due to chronic obstructive pulmonary disease (COPD). It is associated with a spectrum of clinical manifestations, including worsening dyspnea, cough, declining pulmonary function, and occasionally spontaneous pneumothorax due to ruptured bullae.


bronchogenic carcinoma

A lung carcinoma arising from the bronchial epithelium.


farmer's lung disease

Hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs.


cellular interstitial pneumonitis

An interstitial lung disease specific to infancy that is characterized by tachypnea at birth and persistent disease, diffuse interstitial thickening due to pale oval and spindle-shaped histiocytes without scarring.


lung PEComa

A lung tumor that arises from perivascular epithelioid cells (PECs).


hereditary pulmonary alveolar proteinosis

Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.


rheumatoid lung disease

Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis.


adiaspiromycosis

Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens).


Niemann-Pick disease type B

Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea


hyperlucent lung

A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or pneumothorax.


occult small cell lung carcinoma

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


pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1

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


anthracosis

A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners.


lung colloid adenocarcinoma

A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells.


lung occult squamous cell carcinoma

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


persistent tachypnoe of infancy

A interstial lung disease characterized by the presence of persistent or intermittent tachypnea (usually noticed in neonatal period or after an acute infection for the first time in first months of life), crackles in 86 %, retractions in 82%, failure to thrive in 66%, chest wall abnormalities in 22% and hypoxemia or desaturation in 88%.


chronic beryllium disease

Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.


Mac-Leod-Swyer-James-Syndrome

A rare lung condidtion characterized by often predominantly unilateral lung hyperlucency and air trapping. The condition is a post-infectious form of bronchiolitis obliterans and typically follows a viral respiratory infection in infancy and childhood. Adenovirus infection is considered the most usual epidemiology. In SJS, the involved lung or portion of the lung does not grow normally and is slightly smaller than the opposite lung: in particular, peripheral branches of the pulmonary vessels do not develop, and vasculature is arreseted at the stage at which the infection occurred. Patients respond well to management with bronchodilators, even though this is not primarily a bronchial abnormality.


graphite pneumoconiosis

A disorder associated with chronic exposure to inhaled dust from crystallized carbon.


neuroendocrine cell hyperplasia of infancy

Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure.


pediatric acute respiratory distress syndrome

Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded.


secondary pulmonary hemosiderosis

Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome, autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography


pulmonary venoocclusive disease 2

A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal.


interstitial lung disease specific to adulthood


malt worker's lung

An extrinsic allergic alveolitis caused by infection with Aspergillus.


surfactant metabolism dysfunction, pulmonary, 4


lung inflammatory myofibroblastic tumor

An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.


rickettsial pneumonia

Pneumonia caused by infection with bacteria of the family rickettsiaceae.


lung non-Hodgkin lymphoma

A rare non-Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. Representative examples include bronchial mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma.


A bronchiolo-alveolar adenocarcinoma that is characterized by a tumor cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion.


lymphoepithelioma-like lung carcinoma

A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration.


pneumonia caused by gram negative bacteria


persistent tachypnoe of infancy, usual

Persistent tachypnoe of infancy that presents with with no other airway or parenchymal abnormalities upon scanning (N=80; 63%).


lung occult large cell carcinoma

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


bronchiectasis with or without elevated sweat chloride 1


lung adenocarcinoma in situ

A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less. It is characterized by a pure lepidic growth pattern and the lack of stromal, vascular, or pleural invasion.


occupational asthma

Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE.


large cell lung carcinoma, clear cell variant

A morphologic variant of large cell lung carcinoma characterized by a predominance of clear cells that may or may not contain glycogen.


mixed mineral dust pneumoconiosis

Pneumoconiosis caused by the inhalation of mixed mineral dust particles.


pulmonary fibrosis and/or bone marrow failure, telomere-related, 6


pulmonary fibrosis and/or bone marrow failure, telomere-related, 5


house allergic alveolitis

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.


neonatal acute respiratory distress due to SP-B deficiency

An autosomal recessive condition caused by mutation(s) in the SFTPB gene, encoding pulmonary surfactant-associated protein B. It is characterized by severe respiratory distress-like illness and responds poorly to exogenous administration of surfactant.


congenital chylothorax

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

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


lung combined large cell neuroendocrine carcinoma

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

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

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.


secondary pulmonary alveolar proteinosis

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


byssinosis

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

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

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

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


fungal lung infectious disease

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


familial hypocalciuric hypercalcemia 3

Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.


localized pulmonary fibrosis

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


pleuropulmonary blastoma

A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas.


meconium aspiration syndrome

A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date.


lung benign neoplasm

A non-metastasizing neoplasm that arises from the lung parenchyma or the bronchi. Representative examples include lung adenoma, lung hamartoma, and endobronchial lipoma.


Rajab interstitial lung disease with brain calcifications


ventilation pneumonitis

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

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


slate pneumoconiosis

Pneumoconiosis caused by exposure to slate dust.


hypersensitivity pneumonitis, familial

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


pulmonary sarcoidosis

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

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.


hemosiderosis, pulmonary, with deficiency of gamma-a globulin


bagassosis

An occupational lung disorder caused by inhalation of bagasse dust. In the acute phase, it manifests as cough, dyspnea, fever, chills, and weakness. Chronic exposure may lead to interstitial lung fibrosis.


high altitude pulmonary edema

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.


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


Hermansky-Pudlak syndrome 1

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene.


lung carcinoid tumor

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.


lung combined type small cell adenocarcinoma

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


Rajab interstitial lung disease with brain calcifications 1


maple bark strippers' lung

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

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.


pulmonary sulcus neoplasm

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.


surfactant metabolism dysfunction, pulmonary, 2


bronchus mucoepidermoid carcinoma

A mucoepidermoid carcinoma that involves the bronchus.


acute lung injury

A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological).


interstitial lung disease specific to infancy


hantavirus pulmonary syndrome

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


lung lymphangioleiomyomatosis

Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course.


well-differentiated fetal adenocarcinoma of the lung

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

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

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

A hemangioma that involves the lung.


interstitial emphysema

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

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

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.


cytomegalovirus pneumonia due to NOS2 deficiency

Cytomegalovirus pneumonia due to variant in the NOS2 gene.


restrictive pulmonary disease

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

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


surfactant metabolism dysfunction, pulmonary, 5

Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene.


idiopathic chronic eosinophilic pneumonia

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).


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


papillary lung adenocarcinoma

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


chronic eosinophilic pneumonia

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.


Caplan syndrome

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

Evidence of systemic sclerosis with lung involvement.


lung leiomyosarcoma

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


pneumonitis

An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia.


drug or radiation exposure-related interstitial lung disease


pulmonary blastoma

A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic.


familial hypocalciuric hypercalcemia 1

Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene.


viral pneumonia

Inflammation of the lung parenchyma that is caused by a viral infection.


Lane Hamilton syndrome

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


anthracosilicosis

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


lung sarcomatoid carcinoma

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.


chronic respiratory distress with surfactant metabolism deficiency


pleuropulmonary blastoma type 1

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


lung pleomorphic carcinoma

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

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

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

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

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.


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

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


solid adenocarcinoma with mucin production


sick building syndrome

A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992)


interstitial lung disease specific to childhood

A interstitial lung disease that occurs during childhood.


combined pulmonary fibrosis-emphysema syndrome


combined lung carcinoma

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


familial hypocalciuric hypercalcemia 2

A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.


interstitial lung disease due to SP-C deficiency


lung germ cell tumor

A germ cell tumor that arises from the lung.


middle lobe syndrome

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


anaerobic pneumonia

A pneumonia caused by anaerobic bacteria.


lung meningioma

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

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.


bronchiectasis with or without elevated sweat chloride 3

Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene.


pulmonary alveolar microlithiasis

Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner.


severe early-onset pulmonary alveolar proteinosis due to MARS deficiency


lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

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.


pulmonary plasma cell granuloma

A tumor-like inflammatory lesion of the lung that is composed of plasma cells and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter.


lung hilum cancer

A malignant neoplasm involving the lung hilus.


lung sarcoma

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


lung carcinoma in situ

A carcinoma in situ involving a lung.


silicosis

Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition.


interstitial lung disease due to ABCA3 deficiency

Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.


postinfectious bronchiolitis obliterans

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

Scarring of the lung parenchyma caused by pulmonary tuberculosis.


acute respiratory distress syndrome

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

A carcinoma in situ involving a bronchus.


lipid pneumonia

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


lung superior sulcus carcinoma

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.


newborn respiratory distress syndrome

A condition beginning in the first day of life that results from inadequate surfactant production, causing increased work of breathing and impaired gas exchange.


lung adenoma

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.


desquamative interstitial pneumonia

A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis.


follicular bronchiolits

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


idiopathic interstitial pneumonia

A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis).


Graham-Boyle-Troxell syndrome

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.


alveolar capillary dysplasia with misalignment of pulmonary veins

A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.


lung abscess

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.


bronchiolocentric pattern of interstitial pneumonia

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

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

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

A malignant hemangiopericytoma occurring in the adult population.


breast hemangiopericytoma

A hemangiopericytoma arising from the breast.


skin glomus tumor

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.


hemangiopericytoma

An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces.


cutaneous glomangioma

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


hemangiopericytoma, malignant

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

A hemangiopericytoma that involves the zone of skin.


myofibroma

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.


infantile myofibromatosis

A benign, multifocal, 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

A malignant hemangiopericytoma arising in the heart.


glomus tumor

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

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

A glomangiomyoma that involves the zone of skin.


Pericytoma with t(7;12)

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


telangiectatic glomangioma

A glomus tumor characterized by huge vascular channel formations.


angioleiomyoma

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.


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


subungual glomus tumor

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


kidney hemangiopericytoma

A hemangiopericytoma arising from the kidney.


glomangiomatosis

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


glomangioma

A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions.


adult intracranial malignant hemangiopericytoma

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


myofibromatosis, infantile, 2

Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene.


meninges hemangiopericytoma

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


retroperitoneal hemangiopericytoma

A benign or malignant hemangiopericytoma arising from the retroperitoneum.


glomangiomyoma

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.


myofibromatosis, infantile, 1

Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene.


hemangiopericytic tumor

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


childhood malignant hemangiopericytoma

A malignant hemangiopericytoma occurring in childhood.


A malignant hemangiopericytoma arising in the mediastinum.


intravascular angioleiomyoma

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


benign perivascular tumor

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.


Blood pressure substantially higher in legs than arms

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

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.


brachydactyly type A1

Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.


Blasts Expressing T-Lymphoid and Megakaryocytic Markers Present

A finding indicating the presence of blasts with evidence of T-cell and megakaryocytic lineage assignment.


psychologic vaginismus

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


dermatoleukodystrophy

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.


mitochondrial complex 1 deficiency, nuclear type 28


Catalysis of the reaction: H+ + NADH + O2 + quinolin-4-ol = H2O + NAD+ + quinoline-3,4-diol.


esophageal small cell neuroendocrine carcinoma

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.


N8-acetylspermidine:oxygen oxidoreductase (propane-1,3-diamine-forming) activity

Catalysis of the reaction: H2O + N(8)-acetylspermidine + O2 = 1,3-diaminopropane + 4-acetamidobutanal + H2O2.


effector-mediated suppression of host pattern-triggered immunity signaling

biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

A process mediated by a molecule secreted by a symbiont that results in the suppression of a pattern-triggered immunity PTI signaling pathway. PTI signaling pathways are found in plants.


effector-mediated suppression of host innate immune response

A process mediated by a molecule secreted by a symbiont that results in the suppression of a host innate immune response. The host is defined as the larger of the organisms involved in a symbiotic interaction.


effector-mediated suppression of host pattern-triggered immunity

A process mediated by a molecule secreted by a symbiont that results in the suppression of the innate immune response of the host organism via recognition of a microbe-associated molecular pattern. The innate immune response is the host's first line of defense against infection. The host is defined as the larger of the organisms involved in a symbiotic interaction.


biolink:CellularComponent biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

A protein complex that consists of an alpha2-beta1 integrin complex bound to a type VI collagen triple helix containing an alpha3(VI) chain.


negative regulation of proline import across plasma membrane

Any process that stops, prevents or reduces the frequency, rate or extent of proline import into cell.


Catalysis of the reaction: (S)-3-hydroxybutanoate + 2-oxoglutarate = acetoacetate + (R)-2-hydroxyglutarate.


positive regulation of myofibroblast cell apoptotic process

Any process that activates or increases the frequency, rate or extent of myofibroblast cell apoptotic process.


polyglucosan body myopathy 1 with or without immunodeficiency

A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.


muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4


myopathy caused by variation in FKTN

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


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.


autosomal recessive limb-girdle muscular dystrophy type 2M

A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.


cyclic-GMP-AMP transmembrane import across plasma membrane

The directed movement of cyclic-GMP-AMP from outside of a cell, across the plasma membrane and into the cytosol.


positive regulation of synoviocyte proliferation

Any process that activates or increases the frequency, rate or extent of synoviocyte proliferation.


positive regulation of type B pancreatic cell proliferation

Any process that activates or increases the frequency, rate or extent of type B pancreatic cell proliferation.


positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis

Any process that activates or increases the frequency, rate or extent of blood vessel endothelial cell proliferation involved in sprouting angiogenesis.


positive regulation of vascular endothelial cell proliferation

Any process that activates or increases the frequency, rate or extent of vascular endothelial cell proliferation.


positive regulation of cholangiocyte proliferation

Any process that activates or increases the frequency, rate or extent of cholangiocyte proliferation.


positive regulation of thyroid gland epithelial cell proliferation

Any process that activates or increases the frequency, rate or extent of thyroid gland epithelial cell proliferation.


positive regulation of epithelial cell proliferation involved in lung bud dilation

Any process that increases the rate or frequency of epithelial cell proliferation that results in the lung bud increasing in size radially.


positive regulation of acinar cell proliferation

Any process that activates or increases the frequency, rate or extent of acinar cell proliferation.


positive regulation of urothelial cell proliferation

Any process that activates or increases the rate or extent of urothelial cell proliferation.


positive regulation of granulosa cell proliferation

Any process that activates or increases the frequency, rate or extent of granulosa cell proliferation.


isolated thyroid-stimulating hormone deficiency

Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.


Compensated hypothyroidism

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


central congenital hypothyroidism

Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.


isolated thyrotropin-releasing hormone deficiency

Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone.


glucosamine catabolic process

The chemical reactions and pathways resulting in the breakdown of glucosamine (2-amino-2-deoxyglucopyranose), an aminodeoxysugar that occurs in combined form in chitin.


(R)-diethylpropion

The (R)-enantiomer of amfepramone.


structural constituent of ascospore wall

The action of a molecule that contributes to the structural integrity of an ascospore wall.


breast leiomyoma

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.


Platinum-Sensitive Endometrial Serous Adenocarcinoma

Endometrial serous adenocarcinoma that has a documented response to platinum-based chemotherapy.


Demyelinating sensory neuropathy

Demyelination of peripheral sensory nerves.


Ampulla of Vater Tubulovillous Adenoma

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.


negative regulation of phosphatidylserine biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of phosphatidylserine biosynthetic process.


regulation of phosphatidylserine biosynthetic process

Any process that modulates the frequency, rate or extent of phosphatidylserine biosynthetic process.


positive regulation of phosphatidylserine biosynthetic process

Any process that activates or increases the frequency, rate or extent of phosphatidylserine biosynthetic process.


Catalysis of the reaction: estradiol-17-alpha + NAD(P)+ = estrone + NAD(P)H + H+.


testosterone dehydrogenase [NAD(P)] activity

Catalysis of the reaction: testosterone + NAD(P)+ = androst-4-ene-3,17-dione + NAD(P)H + H+.


Bracket epiphysis of the proximal phalanx of the 3rd toe


Schinzel-Giedion syndrome

Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.


tubulopapillary adenoma of extrahepatic bile duct

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


Progressive congenital scoliosis

A progressive form of scoliosis with congenital onset.


7-methylguanosine catabolic process

The chemical reactions and pathways resulting in the breakdown of 7-methylguanosine, a modified nucleoside that forms a cap at the 5'-terminus of eukaryotic mRNA.


inosine catabolic process

The chemical reactions and pathways resulting in the breakdown of inosine, hypoxanthine riboside, a nucleoside found free but not in combination in nucleic acids except in the anticodons of some tRNAs.


xanthosine catabolic process

The chemical reactions and pathways resulting in the breakdown of xanthosine.


guanosine catabolic process

The chemical reactions and pathways resulting in the breakdown of guanine, guanine riboside, a nucleoside with a wide species distribution.


positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation

Any process that activates or increases the frequency, rate or extent of canonical Wnt signaling pathway modulating the rate or frequency of pancreatic B cell proliferation.


negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation

Any process that stops, prevents, or reduces the frequency, rate or extent of canonical Wnt signaling pathway modulating the rate or frequency of pancreatic B cell proliferation.


congenital isolated adrenocorticotropic hormone deficiency

A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.


vestibular receptor cell stereocilium organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a stereocilium. A stereocilium is an actin-based protrusion from the apical surface of vestibular hair cells.


neuron projection organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a neuron, e.g. an axon, or a dendrite.


Periodic fever

Episodic fever that recurs at regular intervals.


Quotidian fever

Fever that occurs at daily intervals.


mating type region replication fork barrier binding

Binding to the replication fork barrier found in the mating type region of fission yeast.


nuclear migration to embryo sac poles

Migration of the nuclei of the two-nucleate embryo sac to opposite poles of the cell.


mitogen-activated protein kinase kinase kinase kinase binding

Binding to a mitogen-activated protein kinase kinase kinase kinase, a protein that can phosphorylate a MAP kinase kinase kinase.


protein histidine kinase binding

Binding to a protein histidine kinase.


protein serine/threonine kinase binding

Binding to a protein serine/threonine kinase.


efferent portion of pharyngeal arch artery

A section of a pharyngeal arch artery that carries blood away from the gills.


Umbilical Hernia with Obstruction without Mention of Gangrene

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.


Pulmonary myxoid sarcoma with EWSR1-CREB1 translocation

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.


lymphoepithelioma-like acinar prostate adenocarcinoma

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


Sinonasal Tract Myxoma

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.


myxoma

A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation.


Ventricular myxoma

A cardiac myxoma arising from the ventricle.


Cutaneous myxoma

A myxoma originating in the skin.


Intramuscular Myxoma

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

A cardiac myxoma arising from the atrium.


Ovarian Myxoma

A myxoma arising from the ovary.


Myxoma of the Endocardium

A myxoma arising from the endocardium.


Right atrial myxoma

A cardiac myxoma arising from the right atrium.


Conjunctival Myxoma

A rare myxoma arising from the bulbar conjunctiva.


Juxta-Articular Myxoma

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

A cutaneous myxoma arising from the hair follicle.


Left atrial myxoma

A cardiac myxoma arising from the left atrium.


Cellular Myxoma

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


viral inner membrane

The lipid bilayer of a virion contained inside the protein capsid.


Catalysis of the reaction: 4-hydroxyphenylacetate + NADPH + H+ + O2 = homogentisate + NADP+ + H2O.


neurofibroma of spinal cord

A neurofibroma that arises from the spinal cord.


adult pure red cell aplasia

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.


transient erythroblastopenia of childhood

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

Any anomaly of the function of a coronary artery.


Anti-U3 RNP antibody positivity

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