mediastinum seminoma

description: An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors.


polyembryoma

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

description: Polyembryoma is a type oftumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctivelook because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known.


name: ovarian yolk sac tumor, hepatoid pattern

description: A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue.


extragonadal teratoma

description: Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor.


name: childhood central nervous system immature teratoma

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


name: central nervous system nongerminomatous germ cell tumor

description: Germ cell tumors of the central nervous system other than germinoma. This category includes teratoma, choriocarcinoma, embryonal carcinoma, and yolk sac tumor.


name: enteric pattern testicular yolk sac tumor

description: A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands.


name: childhood central nervous system mature teratoma

description: A mature teratoma that arises from the central nervous system during childhood.


name: ovarian yolk sac tumor, polyvesicular vitelline pattern

description: A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues.


name: childhood central nervous system germ cell tumor

description: A germ cell tumor of the central nervous system occurring in children.


childhood ovarian embryonal carcinoma

description: An embryonal carcinoma that arises from the ovary and occurs in children.


intratubular embryonal carcinoma

description: Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)


pineal region mature teratoma

description: A mature teratoma that arises from the pineal region.


cardiac germ cell tumor

description: A germ cell tumor that arises within the myocardium or cardiac chambers. The reported cases have been teratomas and yolk sac tumors.


name: childhood central nervous system germinoma

description: A germinoma arising from the central nervous system during childhood.


name: adult central nervous system mixed germ cell tumor

description: A mixed germ cell tumor of central nervous system that occurs in an adult.


childhood endodermal sinus tumor

description: A yolk sac tumor that occurs during childhood.


extragonadal germ cell cancer

description: A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.


name: adult central nervous system mature teratoma

description: A central nervous system mature teratoma that occurs in an adult.


uterine corpus choriocarcinoma

description: An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.


pediatric CNS choriocarcinoma

description: A choriocarcinoma that arises from the central nervous system and occurs during childhood.


name: non-central nervous system-localized embryonal carcinoma


name: embryonal carcinoma of the central nervous system

description: A embryonal carcinoma that involves the central nervous system.


ovarian embryonal carcinoma

description: An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain.


name: extragonadal nonseminomatous germ cell tumor

description: A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.


name: testicular yolk sac tumor, papillary pattern

description: A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli.


testis polyembryoma

description: A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies.


pineal region teratoma

description: A mature or immature teratoma that arises in the pineal region.


mixed extragonadal germ cell cancer

description: A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle.


name: testicular yolk sac tumor, glandular-alveolar pattern

description: A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures.


name: childhood central nervous system mixed germ cell tumor

description: A mixed germ cell tumor that arises from the central nervous system and occurs during childhood.


name: mixed germ cell tumor of central nervous system

description: A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia.


name: testicular yolk sac tumor, hepatoid pattern

description: A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections.


childhood brain germinoma

description: A germinoma arising from the brain during childhood.


vaginal yolk sac tumor

description: A rare yolk sac tumor that arises from the vagina. Patients present with abnormal vaginal bleeding or bloody discharge.


childhood germ cell brain tumor

description: A germ cell tumor arising from brain during childhood.


name: central nervous system endodermal sinus tumor

description: A yolk sac tumor that arises from the central nervous system and occurs during childhood.


pineal region yolk sac tumor

description: A yolk sac tumor that involves the pineal body.


central nervous system teratoma

description: A mature or immature teratoma that affects the central nervous system.


Stage IVA Vaginal Cancer AJCC v8

description: Stage IVA includes: T4, Any N, M0. T4: Tumor invading the mucosa of the bladder or rectum and/or extending beyond the true pelvis (bullous edema is not sufficient evidence to classify a tumor as T4). M0: No distant metastasis. (from AJCC 8th Ed.)


name: Childhood Anaplastic Sarcoma of the Kidney

description: An anaplastic sarcoma of the kidney that occurs during childhood.


name: idiopathic multidrug-resistant nephrotic syndrome


name: Refractory Diffuse Intrinsic Pontine Glioma

description: Diffuse intrinsic pontine glioma that is resistant to treatment.


name: Childhood Diffuse Intrinsic Pontine Glioma

description: A diffuse intrinsic pontine glioma that occurs during childhood.


Adult Diffuse Intrinsic Pontine Glioma

description: A diffuse intrinsic pontine glioma that occurs during adulthood.


name: Recurrent Diffuse Intrinsic Pontine Glioma

description: The reemergence of diffuse intrinsic pontine glioma after a period of remission.


name: uterine corpus atypical polypoid adenomyoma

description: An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision.


adenomyoma of uterine corpus

description: A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue.


name: Childhood TdT Negative Acute Lymphoblastic Leukemia

description: TdT negative acute lymphoblastic leukemia that occurs during childhood.


name: TdT Negative Acute Lymphoblastic Leukemia


name: Adult TdT Negative Acute Lymphoblastic Leukemia

description: TdT negative acute lymphoblastic leukemia that occurs during adulthood.


Borderline Breast Phyllodes Tumor

description: A phyllodes tumor of the breast characterized by the presence of intermediate features and a stroma which usually resembles low grade fibrosarcoma.


name: Endometrioid Tumor, Variant with Squamous Differentiation

description: An endometrioid tumor exhibiting squamous differentiation.


name: Endometrioid Adenocarcinoma, Variant with Squamous Differentiation

description: An endometrioid adenocarcinoma exhibiting squamous differentiation.


COVID-19-Associated Ageusia

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

description: Ageusia caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).


Benign Cardiac Germ Cell Tumor

description: A germ cell tumor that arises within the myocardium or cardiac chambers. There is no evidence of atypia or metastases.


Malignant Pancreatic Insulinoma

description: An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas.  Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. It displays vascular invasion and metastasizes to other anatomic sites.


TERT Deficiency

description: A condition of decreased or absent presence of telomerase reverse transcriptase. Deficiency of this protein is associated with autosomal dominant dyskeratosis congenital 2, autosomal recessive dyskeratosis congenita 4, telomere-related pulmonary fibrosis, and bone marrow failure 1.


Ovarian Dermoid Cyst with Melanoma

description: A secondary melanoma that has developed in an ovarian dermoid cyst.


gonadal teratoma

description: A teratoma that arises from the testis or ovary.


mature ovarian teratoma

description: An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues.


Grade 1 Ovarian Teratoma

description: A teratoma that arises from the ovary. It contains mature tissue elements and a limited amount of immature tissue elements.


Childhood Testicular Immature Teratoma

description: An immature teratoma that arises from the testis and occurs in children.


name: Ovarian Dermoid Cyst with Adenocarcinoma

description: A secondary adenocarcinoma that has developed in an ovarian dermoid cyst.


Stage I Ovarian Teratoma AJCC v6 and v7

description: Stage I includes: (T1, N0, M0). T1: Tumor limited to ovaries (one or both).  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th Eds.)


name: Ovarian Dermoid Cyst with Leiomyosarcoma

description: A secondary leiomyosarcoma that has developed in an ovarian dermoid cyst.


childhood immature teratoma of ovary

description: An immature teratoma that arises from the ovary and occurs in children.


name: Stage IV Ovarian Teratoma AJCC v6 and v7

description: Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.)


name: Testicular Teratoma with Somatic-Type Malignancy

description: A testicular teratoma associated with a distinct secondary component that resembles a somatic-type malignant neoplasm (e.g., carcinoma or sarcoma).


struma ovarii

description: An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue. The aberrant thyroid tissue shows morphologic changes identical to thyroid adenoma or carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or Meigs syndrome (ascites and pleural effusion).


name: Ovarian Dermoid Cyst with Somatic-Type Malignancy

description: An ovarian dermoid cyst associated with a distinct secondary component that resembles a somatic-type malignant neoplasm (e.g., carcinoma or sarcoma).


immature ovarian teratoma

description: A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients.


name: Ovarian Dermoid Cyst with Secondary Carcinoma

description: A secondary carcinoma that has developed in an ovarian dermoid cyst.  In the majority of cases, the secondary carcinoma is a squamous cell carcinoma.


name: Ovarian Dermoid Cyst with Secondary Sebaceous Tumor

description: A secondary sebaceous adenoma or sebaceous carcinoma that has developed in an ovarian dermoid cyst.


Ovarian Teratoma with Carcinoid Tumor

description: An ovarian teratoma characterized by the presence of a neoplastic neuroendocrine component consistent with carcinoid tumor.


Strumal carcinoid

description: An ovarian neoplasm characterized by the presence of aberrant thyroid tissue and a carcinoid tumor. A minority of patients develop symptoms of functioning thyroid tissue. The neuroendocrine carcinoid cells infiltrate the aberrant thyroid tissue and progressively replace the follicular lining cells.


name: Stage I Testicular Immature Teratoma AJCC v6 and v7

description: Stage I includes: pT1-4, N0, M0, SX.  pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis.  pT2: Tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis.  pT3: Tumor invades the spermatic cord with or without vascular/lymphatic invasion.  pT4: Tumor invades the scrotum with or without vascular/lymphatic invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)


name: Ovarian Dermoid Cyst with Secondary Tumor

description: An adult-type tumor that has derived from an ovarian dermoid cyst.  Representative examples include dermoid cyst with secondary carcinoma, dermoid cyst with secondary sarcoma, and dermoid cyst with pituitary-type tumor.


name: Ovarian Dermoid Cyst with Secondary Sarcoma

description: A secondary sarcoma that has developed in an ovarian dermoid cyst.  Representative examples of secondary sarcomas include leiomyosarcoma, fibrosarcoma, and angiosarcoma.


ovarian biphasic or triphasic teratoma

description: A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm.


name: Stage III Testicular Immature Teratoma AJCC v6 and v7

description: Stage III includes: Any pT/TX, Any N, M1, SX.  M1: Distant metastasis. SX: Marker studies not available or not performed.  (AJCC 6th and 7th eds.)


Childhood Testicular Teratoma

description: A teratoma that arises from the testis during childhood.


ovarian monodermal teratoma

description: A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer.


Testicular Teratoma, Prepubertal-Type

description: A testicular teratoma that is not associated with germ cell neoplasia in situ or chromosome 12p amplification.


name: Stage III Ovarian Teratoma AJCC v6 and v7

description: Stage III includes: T3, N0, M0. T3: Tumor involves one or both both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


name: Ovarian Dermoid Cyst with Corticotropin Secreting Adenoma

description: A corticotropin secreting adenoma that has developed in an ovarian dermoid cyst.  It may present with Cushing syndrome.  The clinical course is benign.


Malignant Ovarian Teratoma

description: A teratoma that arises from the ovary. It is composed exclusively of immature tissue elements.


name: Ovarian Dermoid Cyst with Secondary Pituitary-Type Tumor

description: A secondary corticotropin secreting adenoma or prolactin secreting adenoma that has developed in an ovarian dermoid cyst.  The clinical course is benign.


Testicular Dermoid Cyst

description: A mature teratoma that arises from the testis and is characterized by the presence of one or more cysts.  The cysts are lined by squamous epithelium and contain skin appendages.  Other teratomatous components may or may not be present.


Monodermal Testicular Teratoma

description: A teratoma that arises from the testis.  It is composed exclusively of one of the following tissue types: endoderm, ectoderm, or mesoderm.


ovarian cystic teratoma

description: A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst.


name: Ovarian Dermoid Cyst with Squamous Cell Carcinoma

description: A secondary squamous cell carcinoma that has developed in an ovarian dermoid cyst.


childhood teratoma of the ovary

description: A mature or immature teratoma that arises from the ovary and occurs in children.


name: Ovarian Dermoid Cyst with Sebaceous Carcinoma

description: A secondary sebaceous carcinoma that has developed in an ovarian dermoid cyst.


name: Stage II Testicular Immature Teratoma AJCC v6 and v7

description: Stage II includes: Any pT/TX, N1-3, M0, SX.  pTX: Primary tumor cannot be assessed.  N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension.  N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension.  N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. SX: Marker studies not available or not performed.  (AJCC 6th and 7th eds.)


ovarian fetiform teratoma

description: A rare type of teratoma that arises from the ovary and resembles a malformed fetus.


name: Ovarian Dermoid Cyst with Melanocytic Nevus

description: A secondary melanocytic nevus that has developed in an ovarian dermoid cyst.


name: Ovarian Dermoid Cyst with Sebaceous Adenoma

description: A secondary sebaceous adenoma that has developed in an ovarian dermoid cyst.


childhood mature teratoma of the ovary

description: A mature teratoma that arises from the ovary and occurs in children.


name: Ovarian Dermoid Cyst with Secondary Melanocytic Lesion

description: A secondary melanoma or melanocytic nevus that has developed in an ovarian dermoid cyst.


Testicular Mature Teratoma

description: A teratoma that arises from the testis and is composed of well differentiated, adult-type tissues.


name: Stage II Ovarian Teratoma AJCC v6 and v7

description: Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


name: Ovarian Dermoid Cyst with Prolactin Secreting Adenoma

description: A prolactin secreting adenoma that has developed in an ovarian dermoid cyst.  It may present with hyperprolactinemia and amenorrhea.  The clinical course is benign.


malignant teratoma of testis

description: A malignant teratoma that involves the testis.


Childhood Testicular Mature Teratoma

description: A mature teratoma that arises from the testis and occurs in children.


Testicular Teratoma, Postpubertal-Type

description: A testicular teratoma associated with germ cell neoplasia in situ and chromosome 12p amplification.


name: ovarian monodermal and highly specialized teratoma

description: A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue.


Ovarian Dermoid Cyst with Angiosarcoma

description: A secondary angiosarcoma that has developed in an ovarian dermoid cyst.


Chagas cardiomyopathy

description: A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly.


name: Beckwith-Wiedemann syndrome due to CDKN1C mutation


viral dilated cardiomyopathy

description: An dilated cardiomyopathy caused by infection with Viruses.


name: familial isolated arrhythmogenic ventricular dysplasia, right dominant form


name: cardiomyopathy, familial hypertrophic, 28


name: familial isolated arrhythmogenic ventricular dysplasia, biventricular form


name: arrhythmogenic right ventricular dysplasia 6

description: An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12.


Noonan syndrome 11

description: Noonan syndrome caused by autosomal dominant mutation(s) in the MRAS gene, encoding Ras-related protein M-Ras.


cardiomyopathy, dilated, 2c

description: A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has material basis in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34.


bacterial myocarditis

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


cardiac sarcoidosis

description: Sarcoidosis affecting the tissues of the heart.


dilated cardiomyopathy 1H

description: A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22.


Loeffler endocarditis

description: Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma.


name: arrhythmogenic right ventricular dysplasia 3

description: An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22.


intrinsic cardiomyopathy

description: A cardiomyopathy that is due to abnormalities in heart muscle cells.


interstitial myocarditis

description: Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present.


PRKAG2-related cardiomyopathy

description: A metabolic heart condition characterized by variable cardiac hypertrophy, ventricular pre-excitation, and aberrant glycogen storage in the cardiac tissue due to a pathogenic variant in PRKAG2 that results in a net anabolic effect in cardiac cells.


name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15


name: Beckwith-Wiedemann syndrome due to 11p15 microduplication


giant cell myocarditis

description: An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available.


noonan syndrome 12

description: Noonan syndrome caused by autosomal dominant mutation(s) in the RRAS2 gene, encoding Ras-related protein R-Ras2.


cardiomyopathy, dilated, 1MM

description: A dilated cardiomyopathy that has material basis in heterozygous mutation in the MYBPC3 gene on chromosome 11p11.


cardiomyopathy, dilated, 2E

description: A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has material basis in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13.


cardiomyopathy, dilated, 2F

description: A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has material basis in homozygous mutation in the BAG5 gene on chromosome 14q32.


diphtheritic myocarditis

description: An myocarditis caused by infection with Corynebacterium diphtheriae.


name: cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies


glutaric acidemia IIc

description: Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFDH gene.


peripartum cardiomyopathy

description: Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery.


name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion


familial cardiomyopathy

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


glutaric acidemia IIb

description: Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFB gene.


primary localized amyloidosis

description: Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin.


hypertrophic cardiomyopathy 19

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene.


hypertrophic cardiomyopathy 21

description: A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation.


Noonan syndrome 13

description: Noonan syndrome caused by autosomal dominant mutation(s) in the MAPK1 gene, encoding mitogen-activated protein kinase 1.


non-compaction cardiomyopathy

description: Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.


name: arrhythmogenic right ventricular dysplasia, familial, 14


name: cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction


name: progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

description: Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.


episodic angioedema with eosinophilia

description: A disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes. Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns.


familial restrictive cardiomyopathy

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


fatal infantile encephalocardiomyopathy

description: Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.


name: multiple acyl-CoA dehydrogenase deficiency, severe neonatal type


extrinsic cardiomyopathy

description: A cardiomyopathy that is not due to abnormalities in heart muscle cells.


rheumatic myocarditis

description: Inflammation of the myocardium in acute rheumatic heart disease.


Beckwith-Wiedemann syndrome

description: Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.


name: autosomal dominant Emery-Dreifuss muscular dystrophy

description: Autosomal dominant form of Emery-Dreifuss muscular dystrophy.


primary systemic amyloidosis

description: Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement.


name: Beckwith-Wiedemann syndrome due to NSD1 mutation


name: hypereosinophilia of undetermined significance

description: Long-lasting, unexplained and asymptomatic blood hypereosinophilia.


name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion


glutaric acidemia IIa

description: Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFA gene.


dilated cardiomyopathy 1Q

description: A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1.


name: disseminated eosinophilic collagen disease


name: glycogen storage disease due to acid maltase deficiency, late-onset

description: Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.


name: Noonan syndrome and Noonan-related syndrome


dilated cardiomyopathy 1B

description: A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13.


acute myocarditis

description: The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness.


autoimmune myocarditis

description: Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended.


viral myocarditis

description: Myocarditis that is caused by an infection with a viral agent.


name: hypertrophic cardiomyopathy due to intensive athletic training


name: cardiomyopathy, familial hypertrophic, 30, atrial


AL amyloidosis

description: AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.


name: familial isolated arrhythmogenic ventricular dysplasia, left dominant form


cirrhotic cardiomyopathy

description: Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes.


name: symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

description: Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.


cardiomyopathy, dilated, 2G

description: A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has material basis in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31.


description: An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual.


Noonan syndrome 2

description: Noonan syndrome caused by autosomal recessive mutation(s) in the LZTR1 gene, encoding leucine-zipper-like transcriptional regulator 1.


name: arrhythmogenic right ventricular dysplasia 4

description: An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.


name: multiple acyl-CoA dehydrogenase deficiency, mild type


autoimmune cardiomyopathy

description: An autoimmune form of cardiomyopathy.


dilated cardiomyopathy 1K

description: A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16.


name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11


name: familial isolated arrhythmogenic right ventricular dysplasia

description: Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.


name: congenital-onset Steinert myotonic dystrophy


cardiomyopathy, dilated, 2D

description: A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has material basis in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13.


tropical endomyocardial fibrosis

description: Tropical endomyocardial fibrosis is a restrictive cardiopathy, occurring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition.


name: NKX2.5-related congenital, conduction and myopathic heart disease

description: A heart disease that includes congenital heart defects, abnormal cardiac conduction or myopathy. Congenital heart defects consists of any heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and hypoplastic left heart syndrome.


benign neoplasm of spinal cord

description: A benign neoplasm that involves the spinal cord.


Sacral Chordoma

description: A chordoma that arises from the sacral area.


name: sacral spinal canal and spinal cord meningioma

description: A meningioma that arises from the meninges of the sacral region of the spinal cord.


Lumbar Spine Neoplasm

description: A benign or malignant neoplasm that affects the lumbar region of the spine.


spinal cord lymphoma

description: A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion.


childhood spinal cord tumor

description: A benign or malignant neoplasm affecting the spinal cord during childhood.


spinal chordoma

description: A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.


name: intradural extramedullary spinal canal neoplasm

description: A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression.


name: thoracic spinal canal and spinal cord meningioma

description: A meningioma that arises from the meninges of the thoracic region of the spinal cord.


name: lumbar spinal canal and spinal cord meningioma

description: A meningioma that arises from the meninges of the lumbar region of the spinal cord.


spinal cord sarcoma

description: A sarcoma that arises from the spinal cord.


intraspinal meningioma

description: A meningioma that arises from the spinal meninges.


epidural spinal canal neoplasm

description: A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord.


Cervical Spine Neoplasm

description: A benign or malignant neoplasm that affects the neck region of the spine.


name: Recurrent Childhood Spinal Cord Neoplasm

description: The reemergence of a spinal cord neoplasm in childhood after a period of remission.


Lumbosacral Spine Neoplasm

description: A benign or malignant neoplasm that affects the lumbosacral region of the spine.


epidural spinal canal angiolipoma

description: An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal.


cauda equina neuroendocrine tumor

description: A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina.


name: Refractory Childhood Spinal Cord Neoplasm

description: Spinal cord neoplasm in childhood which is resistant to treatment.


spinal multifocal clear cell meningioma

description: A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells.


name: multiple spinal canal and spinal cord meningioma

description: Multiple meningiomas that arises from the spinal meninges.


Spinal Cord Pilocytic Astrocytoma

description: Pilocytic astrocytoma that arises from the spinal cord.


Drop Metastasis in the Spinal Cord

description: An intradural extramedullary spinal metastasis from an intracranial tumor through the cerebrospinal fluid.


name: metastatic malignant neoplasm in the spinal cord

description: A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma.


spinal cord melanoma

description: A melanoma (disease) that involves the spinal cord.


spinal cord cancer

description: A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma.


name: Anaplastic (Malignant) Intraspinal Meningioma

description: An anaplastic (malignant) meningioma involving the spinal meninges.


conus medullaris neoplasm

description: A neoplasm (disease) that involves the conus medullaris.


Sacral Spine Neoplasm

description: A benign or malignant neoplasm that affects the sacral region of the spine.


Recurrent Adult Spinal Cord Neoplasm

description: The reemergence of a spinal cord neoplasm in adulthood after a period of remission.


Refractory Adult Spinal Cord Neoplasm

description: Spinal cord neoplasm in adulthood which is resistant to treatment.


Refractory Spinal Cord Neoplasm

description: Spinal cord neoplasm resistant to treatment.


lumbosacral lipoma

description: A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine.


Childhood Spinal Cord Ependymoma

description: An ependymoma of the spinal cord not associated with MYCN amplification and occurring in children.


epidural spinal canal meningioma

description: A meningioma that arises in the epidural spinal canal space.


Thoracic Chordoma

description: A chordoma that arises from the thoracic spine.


cauda equina neoplasm

description: A neoplasm involving a cauda equina.


Thoracic Spine Neoplasm

description: A benign or malignant neoplasm that affects the thoracic region of the spine.


Intraspinal Neoplasm

description: A neoplasm that occurs within the spinal canal including the spinal cord and surrounding paraspinal spaces.


name: cervical spinal canal and spinal cord meningioma

description: A meningioma that arises from the meninges of the cervical region of the spinal cord.


spinal cord lipoma

description: A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare.


Recurrent Spinal Cord Neoplasm

description: The reemergence of a spinal cord neoplasm after a period of remission.


Spinal meningioma benign

description: A grade I, slowly growing meningioma that arises from the spinal meninges.


Stage IB Fallopian Tube Cancer AJCC v8

description: Stage IB includes: T1b, N0, M0. T1b: Fallopian tube cancer with tumor limited to fallopian tubes; no tumor on fallopian tube surface; no malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


epididymal adenomatoid tumor

description: A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis.


adenomatoid tumor

description: A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis.


pleural adenomatoid tumor

description: A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma.


uterine corpus adenomatoid tumor

description: A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures.


fallopian tube adenomatoid tumor

description: A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding.


name: Bladder Non-Invasive Papillary Urothelial Carcinoma, High Grade

description: Bladder non-invasive papillary urothelial carcinoma characterized by marked architectural and cytologic abnormalities and frequent mitotic figures (at all levels of the urothelium).


name: Stage 0a Renal Pelvis and Ureter Cancer AJCC v7

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


name: Bladder Urothelial Proliferation of Uncertain Malignant Potential

description: Marked thickening of the bladder urothelium with minimal or absent cytologic atypia and absence of true papillary formations. It is found most commonly on routine follow-up cystoscopy in patients with a history of papillary urothelial neoplasms. (WHO 2016)


Stage 0a Bladder Cancer AJCC v8

description: Stage 0a includes: Ta, N0, M0. Ta: Non-invasive papillary carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage 0 Renal Pelvis and Ureter Cancer AJCC v7

description: Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0).  Ta: Papillary noninvasive carcinoma. Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


name: Bladder Non-Invasive Urothelial Neoplasm

description: A non-invasive neoplasm that arises from the urothelial lining of the bladder.


Stage 0is Renal Pelvis Cancer AJCC v8

description: Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Non-invasive papillary urothelial carcinoma, high-grade

description: A non-invasive papillary urothelial carcinoma characterized by marked architectural and cytologic abnormalities and frequent mitotic figures (at all levels of the urothelium). It usually occurs in the urinary bladder, but it can arise from other sites in the urinary tract.


Stage 0is Bladder Cancer AJCC v8

description: Stage 0is includes: Tis, N0, M0. Tis: Urothelial carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage 0a Renal Pelvis and Ureter Cancer AJCC v8

description: Stage 0a includes: Ta, N0, M0. Ta: Papillary noninvasive carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage 0is Renal Pelvis and Ureter Cancer AJCC v8


name: Stage 0is Renal Pelvis and Ureter Cancer AJCC v7

description: Stage 0is includes: Tis, N0, M0.  Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


name: Non-invasive papillary urothelial carcinoma, low-grade

description: A non-invasive papillary urothelial carcinoma characterized by minimal cytologic atypia and infrequent mitotic figures (usually limited to the lower half of the tumor). It usually occurs in the urinary bladder, but it can arise from other sites in the urinary tract. This type of carcinoma recurs frequently, may invade the urinary tract wall, and has a low risk of progression.


bladder flat intraepithelial lesion

description: A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ.


name: Recurrent Bladder Non-Invasive Papillary Urothelial Carcinoma, Low Grade

description: The reemergence of bladder non-invasive papillary urothelial carcinoma, low grade, after a period of remission.


name: Early Stage Bladder Urothelial Carcinoma

description: Bladder urothelial carcinoma confined to the lining of the bladder.


name: Papillary Urothelial Neoplasm of Low Malignant Potential

description: A papillary neoplasm of the urothelium. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. It usually occurs in the urinary bladder, but it can arise from other sites in the urinary tract. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas.


name: Non-invasive papillary urothelial carcinoma of bladder

description: Papillary urothelial neoplastic proliferation in the bladder with some level of cytological and architectural disorder visible at low to intermediate magnification, with no invasion beyond the basement membrane (Ta). (WHO 2016)


name: Bladder Non-Invasive Papillary Urothelial Carcinoma, Low Grade

description: Bladder non-invasive papillary urothelial carcinoma characterized by minimal cytologic atypia and infrequent mitotic figures (usually limited to the lower half of the tumor). This type of carcinoma recurs frequently, may invade the bladder wall, and has a low risk of progression.


anterior cranial fossa meningioma

description: A meningioma that affects the anterior cranial fossa.


cerebral falx meningioma

description: A meningioma that affects the falx cerebri.


cavernous sinus meningioma

description: A meningioma that affects the cavernous sinus.


name: Myeloid/lymphoid neoplasm with FLT3 rearrangement

description: Hematologic neoplasms characterized by the rearrangement of the FLT3 gene, most often resulting in the formation of t(12;13)(p13.2;q12.2)/ETV6-FLT3 fusion transcripts. Patients usually present with T-ALL or myeloid sarcoma.


name: 1alpha,25-dihydroxy-26,27-dimethyl-22-oxavitamin D3 / 1alpha,25-dihydroxy-26,27-dimethyl-22-oxacholecalciferol


benign myoepithelioma of salivary gland

description: A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter.


autosomal dominant coarctation of aorta

description: Autosomal dominant form of aorta coarctation.


Pneumocystis infectious disease

description: Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally.


Malposition of heart and cardiac apex

description: Any anatomical misplacement of the heart and cardiac apex such that the organ occupies an unusual location within the body.


Scrotal Sebaceous Cyst

description: A firm nodule on the skin of the scrotum that is caused by an accumulation of sebum resulting from sebaceous gland blockage.


Intratubular malignant germ cells

description: A non-invasive lesion of the testis, characterized by the presence of malignant large germ cells with abundant cytoplasm in the seminiferous tubules. It may be associated with undescended or atrophic testis and infertility. The vast majority of cases progress to invasive germ cell tumors.


name: Testicular Cancer by AJCC v6 and v7 Stage

description: A term that refers to the staging of testicular cancer according to the American Joint Committee on Cancer, 6th and 7th editions.


name: Stage IB Testicular Cancer AJCC v6 and v7

description: Stage IB includes: (pT2, N0, M0, S0); (pT3, N0, M0, S0); (pT4, N0, M0, S0).  pT2: Tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis.  pT3: Tumor invades the spermatic cord with or without vascular/lymphatic invasion.  pT4: Tumor invades the scrotum with or without vascular/lymphatic invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)


name: Stage IIB Testicular Cancer AJCC v6 and v7

description: Stage IIB includes: (Any pT/TX, N2, M0, S0); (Any pT/TX, N2, M0, S1).  pTX: Primary tumor cannot be assessed.  N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension.  M0: No distant metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000.  (AJCC 6th and 7th eds.)


name: Stage I Testicular Non-Seminomatous Germ Cell Tumor AJCC v6 and v7

description: Stage I includes: pT1-4, N0, M0, SX.  pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis.  pT2: Tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis.  pT3: Tumor invades the spermatic cord with or without vascular/lymphatic invasion.  pT4: Tumor invades the scrotum with or without vascular/lymphatic invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)


name: Stage IA Testicular Cancer AJCC v6 and v7

description: Stage IA includes: pT1, N0, M0, S0.  pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)


name: Stage IIIB Testicular Cancer AJCC v6 and v7

description: Stage IIIB includes: (Any pT/TX, N1-3, M0, S2); (Any pT/TX, Any N, M1a, S2).  N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension.  N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension.  N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. M1a: Non-regional nodal or pulmonary metastasis. S2: LDH 1.5-10 x N (N indicates the upper limit of normal for the LDH assay) or hCG 5,000-50,000 or AFP 1,000-10,000.  (AJCC 6th and 7th eds.)


name: Stage IIA Testicular Cancer AJCC v6 and v7

description: Stage IIA includes: (Any pT/TX, N1, M0, S0); (Any pT/TX, N1, M0, S1).  pTX: Primary tumor cannot be assessed.  N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension.  M0: No distant metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000. (AJCC 6th and 7th eds.)


Intratubular Seminoma

description: Intratubular germ cell neoplasia characterized by the complete filling of the seminiferous tubules by seminoma cells.


name: Stage IIIC Testicular Cancer AJCC v6 and v7

description: Stage IIIC includes: (Any pT/TX, N1-3, M0, S3); (Any pT/TX, Any N, M1a, S3); (Any pT/TX, Any N, M1b, Any S).  N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension.  N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension.  N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. M1a: Non-regional nodal or pulmonary metastasis.  M1b: Distant metastasis other than to non-regional lymph nodes and lung.  S3: LDH more than 10 x N (N indicates the upper limit of normal for the LDH assay) or hCG more than 50,000 or AFP more than 10,000. (AJCC 6th and 7th eds.)


name: Testicular germ cell tumor mixed stage III

description: Stage III includes: Any pT/TX, Any N, M1, SX.  M1: Distant metastasis. SX: Marker studies not available or not performed.  (AJCC 6th and 7th eds.)


name: Stage II Testicular Seminoma AJCC v6 and v7

description: Stage II includes: Any pT/TX, N1-3, M0, SX.  pTX: Primary tumor cannot be assessed.  N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension.  N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension.  N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. SX: Marker studies not available or not performed.  (AJCC 6th and 7th eds.)


name: Stage IIC Testicular Cancer AJCC v6 and v7

description: Stage IIC includes: (Any pT/TX, N3, M0, S0); (Any pT/TX, N3, M0, S1).  pTX: Primary tumor cannot be assessed.  N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000.  (AJCC 6th and 7th eds.)


name: Stage III Testicular Cancer AJCC v6 and v7


name: Stage III Testicular Seminoma AJCC v6 and v7


name: Stage 0 Testicular Cancer AJCC v6 and v7

description: Stage 0 includes: pTis, N0, M0, S0.  pTis: Intratubular germ cell neoplasia (carcinoma in situ).  N0: regional lymph node metastasis.  M0: No distant metastasis.  S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)


name: Stage I Testicular Cancer AJCC v6 and v7


name: Stage IS Testicular Cancer AJCC v6 and v7

description: Stage IS includes: Any pT/TX, N0, M0, S1-3.  pTX: Primary tumor cannot be assessed.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000.  S2: LDH 1.5-10 x N or hCG 5,000-50,000 or AFP 1,000-10,000.  S3: LDH more than 10 x N or hCG more than 50,000 or AFP more than 10,000. (AJCC 6th and 7th eds.)


Intratubular Embryonal Carcinoma

description: Intratubular germ cell neoplasia characterized by the filling of the seminiferous tubules by embryonal carcinoma cells. Central necrosis and calcifications are often present.


name: Testicular germ cell tumor mixed stage I


name: Stage II Testicular Cancer AJCC v6 and v7


name: Stage IIIA Testicular Cancer AJCC v6 and v7

description: Stage IIIA includes: (Any pT/TX, Any N, M1a, S0); (Any pT/TX, Any N, M1a, S1).  M1a: Non-regional nodal or pulmonary metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000.  (AJCC 6th and 7th eds.)


name: Stage II Testicular Non-Seminomatous Germ Cell Tumor AJCC v6 and v7


name: Testicular embryonal carcinoma stage III


name: Testicular germ cell tumor mixed stage II


name: Stage III Testicular Non-Seminomatous Germ Cell Tumor AJCC v6 and v7


Bone Hibernoma

description: A benign neoplasm that is composed of brown adipocytes and arises within or on the surface of bone.


name: Inappropriate Sinus Tachycardia Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Inappropriate sinus tachycardia at rest with heart rate  greater than 100 bpm that cannot be explained by any identifiable cause, including anemia, hypoxia, hypotension, or fever that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Deep Tendon Reflex

description: Contraction of a muscle triggered by a signal from a muscle spindle in response to a stimulus applied to a specific trigger point on the body. The strength of the response can provide insight into central and peripheral nerve performance.


name: Lymphadenopathy with Polyclonal Hypergammaglobulinemia

description: A finding indicating the presence of enlarged lymph nodes and associated polyclonal hypergammaglobulinemia.


Localized enlarged lymph nodes

description: Lymphadenopathy restricted to nearby lymph nodes that has not affected other distal nodes.


Dermatopathic lymphadenitis

description: Regional lymph node enlargement with a distinctive reactive process that is characterized by paracortical hyperplasia composed of interdigitating dendritic cells, Langerhans cells, macrophages containing melanin pigment, and small T-cells, due to chronic inflammatory skin disease.


Atypical Lymph Node

description: A lymph node that deviates from usual in terms of size, shape, and internal architecture.


Recurrent Childhood Osteosarcoma

description: The reemergence of childhood osteosarcoma after a period of remission.


name: congenital or early infantile CACH syndrome


name: leukoencephalopathy with vanishing white matter 5


name: leukoencephalopathy with vanishing white matter 2


name: leukoencephalopathy with vanishing white matter 3


name: leukoencephalopathy with vanishing white matter 4


transient congenital hypothyroidism

description: A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone.


bone dysplasia, lethal Holmgren type

description: Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.


name: melanoma, cutaneous malignant, susceptibility to, 9


saturated fatty acid

Any fatty acid containing no carbon to carbon multiple bonds. Known to produce adverse biological effects when ingested to excess.


A 1-acyl-2-alkyl-sn-glycero-3-phosphocholine in which the acyl and alkyl groups at posiitons 1 and 2 are specified respectively as hexadecanoyl and methyl.


branched-chain saturated fatty acid

Any saturated fatty acid with a carbon side-chain or isopropyl termination.


straight-chain saturated fatty acid

Any saturated fatty acid lacking a side-chain.


Recurrent Dedifferentiated Chordoma

description: The reemergence of dedifferentiated chordoma after a period of remission.


Recurrent Chordoma

description: The reemergence of chordoma after a period of remission.


Locally Recurrent Chordoma

description: The reemergence of chordoma after a period of remission, at or adjacent to the site of the original tumor.


name: Stage IV Primary Peritoneal Cancer AJCC v8

description: Stage IV includes: Any T, Any N, M1: M1: Distant metastasis, including pleural effusion with positive cytology; liver or splenic parenchymal metastasis; metastasis to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); and transmural involvement of intestine. (from AJCC 8th Ed.)


name: Recurrent Platinum-Resistant Primary Peritoneal High Grade Serous Adenocarcinoma

description: The reemergence of platinum-resistant primary peritoneal high-grade serous adenocarcinoma after a period of remission.


name: Refractory Primary Peritoneal Endometrioid Adenocarcinoma

description: Primary peritoneal endometrioid adenocarcinoma that is resistant to treatment.


name: Refractory Primary Peritoneal Clear Cell Adenocarcinoma

description: Primary peritoneal clear cell adenocarcinoma that is resistant to treatment.


name: Recurrent Primary Peritoneal Clear Cell Adenocarcinoma

description: The reemergence of primary peritoneal clear cell adenocarcinoma after a period of remission.


name: Stage IIIB Primary Peritoneal Cancer AJCC v8

description: Stage IIIB includes: T3b, N0/N1, M0. T3b: Primary peritoneal cancer with macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension with or without metastasis to the retroperitoneal lymph nodes. N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


Advanced Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that has spread extensively from its original site of growth to other anatomic sites or is no longer responding to treatment.


Clear cell adenocarcinoma of peritoneum

description: An extremely rare adenocarcinoma arising from the peritoneum. It is composed of malignant glandular epithelium containing clear cells.


name: Refractory Primary Peritoneal Transitional Cell Carcinoma

description: Primary peritoneal transitional cell carcinoma that is resistant to treatment.


name: Refractory Primary Peritoneal Adenocarcinoma

description: Primary peritoneal adenocarcinoma that is resistant to treatment.


Metastatic Primary Peritoneal Carcinoma

description: A carcinoma that arises from the peritoneum and has metastasized to another anatomic site.


name: Stage III Primary Peritoneal Cancer AJCC v7

description: Stage III includes: T3, N0, M0.  T3: Microscopically confirmed peritoneal tumor outside pelvis.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th Ed.)


name: Metastatic Primary Peritoneal High Grade Serous Adenocarcinoma

description: Primary peritoneal high-grade serous adenocarcinoma that has spread from its original site of growth to another anatomic site.


name: Stage IIIC Primary Peritoneal Cancer AJCC v7

description: Stage IIIC includes: (T3c, N0, M0); (Any T, N1, M0). T3c: Peritoneal tumor beyond pelvis more than 2cm in greatest dimension and/or regional lymph node metastasis. N0: No regional lymph node metastasis.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th Ed.)


name: Recurrent Primary Peritoneal Adenocarcinoma

description: The reemergence of primary peritoneal adenocarcinoma after a period of remission.


name: Unresectable Primary Peritoneal High Grade Serous Adenocarcinoma

description: Primary peritoneal high-grade serous adenocarcinoma that is not amenable to surgical resection.


name: Refractory Primary Peritoneal Serous Adenocarcinoma

description: Primary peritoneal serous adenocarcinoma that is resistant to treatment.


name: Stage II Primary Peritoneal Cancer AJCC v8

description: Stage II includes: T2, N0, M0. T2: Primary peritoneal cancer. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


name: Metastatic Primary Peritoneal Serous Adenocarcinoma

description: Primary peritoneal serous adenocarcinoma that has spread from its original site of growth to another anatomic site.


name: Stage IIA Primary Peritoneal Cancer AJCC v8

description: Stage IIA includes: T2a, N0, M0. T2a: Primary peritoneal cancer with extension and/or implants on the uterus and/or fallopian tube(s) and/or ovaries. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


name: Locally Advanced Unresectable Primary Peritoneal Carcinoma

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


name: Recurrent Primary Peritoneal Low Grade Serous Adenocarcinoma

description: The reemergence of primary peritoneal low grade serous adenocarcinoma after a period of remission.


name: Primary Peritoneal Transitional Cell Carcinoma

description: An extremely rare transitional cell carcinoma that arises from the peritoneum.


name: Platinum-Resistant Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that progresses between one and six months of completing platinum therapy.


name: Unresectable Primary Peritoneal Endometrioid Adenocarcinoma

description: Primary peritoneal endometrioid adenocarcinoma that is not amenable to surgical resection.


name: Primary Peritoneal Undifferentiated Carcinoma

description: An extremely rare carcinoma arising from the peritoneum. It is characterized by the presence of a diffuse malignant infiltrate that is composed of epithelial cells without evidence of glandular or squamous differentiation.


name: Unresectable Primary Peritoneal Serous Adenocarcinoma

description: Primary peritoneal serous adenocarcinoma that is not amenable to surgical resection.


name: Recurrent Primary Peritoneal Transitional Cell Carcinoma

description: The reemergence of primary peritoneal transitional cell carcinoma after a period of remission.


name: Stage IIIB Primary Peritoneal Cancer AJCC v7

description: Stage IIIB includes: T3b, N0, M0.  T3b: Macroscopic peritoneal tumor beyond pelvis 2 cm or less in greatest dimension. N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th Ed.)


name: Metastatic Platinum-Resistant Primary Peritoneal Carcinoma

description: A platinum-resistant primary peritoneal carcinoma that has spread from its original site of growth to another anatomic site.


name: Refractory Primary Peritoneal High Grade Serous Adenocarcinoma

description: Primary peritoneal high grade serous adenocarcinoma that is resistant to treatment.


name: Recurrent Primary Peritoneal Undifferentiated Carcinoma

description: The reemergence of primary peritoneal undifferentiated carcinoma after a period of remission.


Refractory Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that is resistant to treatment.


name: Unresectable Platinum-Resistant Primary Peritoneal Carcinoma

description: A platinum-resistant primary peritoneal carcinoma that is not amenable to surgical resection.


name: Recurrent Platinum-Sensitive Primary Peritoneal Carcinoma

description: The reemergence of platinum-sensitive primary peritoneal carcinoma after a period of remission.


name: Primary Peritoneal Cancer by AJCC v8 Stage

description: A term that refers to the staging of primary peritoneal cancer according to the American Joint Committee on Cancer, 8th edition.


name: Primary Peritoneal Low Grade Serous Adenocarcinoma

description: A serous adenocarcinoma that arises from the lining of the peritoneum. It is characterized by low grade histopathologic features.


name: Stage III Primary Peritoneal Cancer AJCC v8

description: Stage III includes: IIIA: T3a, N0/N1, M0; IIIB: T3b, N0/N1, M0; IIIC: T3c, N0/N1, M0. T3a: Primary peritoneal cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. T3b: Primary peritoneal cancer with macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension with or without metastasis to the retroperitoneal lymph nodes. T3c: Primary peritoneal cancer with macroscopic peritoneal metastasis beyond the pelvis more than 2 cm in greatest dimension with or without metastasis to the retroperitoneal lymph nodes (includes extension of tumor to capsule of liver and spleen without parenchymal involvement of either organ). N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


name: Primary Peritoneal Cancer by AJCC v7 Stage

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


name: Unresectable Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that is not amenable to surgical resection.


name: Platinum-Refractory Primary Peritoneal High Grade Serous Adenocarcinoma

description: Primary peritoneal high-grade serous adenocarcinoma that progresses during platinum therapy or within one month of completing platinum therapy.


name: Primary Peritoneal Endometrioid Adenocarcinoma

description: An exceedingly rare endometrioid adenocarcinoma arising from the peritoneum.


name: Recurrent Primary Peritoneal High Grade Serous Adenocarcinoma

description: The reemergence of primary peritoneal high-grade serous adenocarcinoma after a period of remission.


name: Metastatic Primary Peritoneal Adenocarcinoma

description: Primary peritoneal adenocarcinoma that has spread from its original site of growth to another anatomic site.


Primary Peritoneal Adenocarcinoma

description: A rare adenocarcinoma that arises from the lining of the peritoneum.


name: Stage IV Primary Peritoneal Cancer AJCC v7

description: Stage IV includes: Any T, Any N, M1.  M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 7th Ed.)


name: Platinum-Refractory Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that progresses during platinum therapy or within one month of completing platinum therapy.


name: Unresectable Primary Peritoneal Adenocarcinoma

description: Primary peritoneal adenocarcinoma that is not amenable to surgical resection.


name: Stage IVA Primary Peritoneal Cancer AJCC v8

description: Stage IVA includes: Any T, Any N, M1a. M1a: Primary peritoneal cancer with pleural effusion with positive cytology. (from AJCC 8th Ed.)


name: Recurrent Primary Peritoneal Endometrioid Adenocarcinoma

description: The reemergence of primary peritoneal endometrioid adenocarcinoma after a period of remission.


Recurrent Primary Peritoneal Carcinoma

description: The reemergence of primary peritoneal carcinoma after a period of remission.


name: Recurrent Platinum-Resistant Primary Peritoneal Carcinoma

description: The reemergence of platinum-resistant primary peritoneal carcinoma after a period of remission.


name: Refractory Primary Peritoneal Low Grade Serous Adenocarcinoma

description: Primary peritoneal low grade serous adenocarcinoma that is resistant to treatment.


name: Stage IIIA Primary Peritoneal Cancer AJCC v7

description: Stage IIIA includes: T3a, N0, M0.  T3a: Microscopic peritoneal tumor beyond pelvis (no macroscopic tumor). N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th Ed.)


name: Refractory Primary Peritoneal Undifferentiated Carcinoma

description: Primary peritoneal undifferentiated carcinoma that is resistant to treatment.


name: Locally Advanced Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


name: Stage IIIC Primary Peritoneal Cancer AJCC v8

description: Stage IIIC includes: T3c, N0/N1, M0. T3c: Primary peritoneal cancer with macroscopic peritoneal metastasis beyond the pelvis more than 2 cm in greatest dimension with or without metastasis to the retroperitoneal lymph nodes (includes extension of tumor to capsule of liver and spleen without parenchymal involvement of either organ). N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


name: Stage IIIA Primary Peritoneal Cancer AJCC v8

description: Stage IIIA includes: T3a, N0/N1, M0. T3a: Primary peritoneal cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


name: Recurrent Primary Peritoneal Serous Adenocarcinoma

description: The reemergence of primary peritoneal serous adenocarcinoma after a period of remission.


name: Stage IIB Primary Peritoneal Cancer AJCC v8

description: Stage IIB includes: T2b, N0, M0. T2b: Primary peritoneal cancer with tumor extension to and/or implants on other pelvic tissues. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


name: Stage IVB Primary Peritoneal Cancer AJCC v8

description: Stage IVB includes: Any T, Any N, M1b. M1b: Primary peritoneal cancer with liver or splenic parenchymal metastases; metastases to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); transmural involvement of intestine. (from AJCC 8th Ed.)


name: Primary Peritoneal High Grade Serous Adenocarcinoma

description: A serous adenocarcinoma that arises from the lining of the peritoneum. It is characterized by high grade histopathologic features.


name: Platinum-Sensitive Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that has a documented response to platinum-based chemotherapy.


name: Platinum-Resistant Primary Peritoneal High Grade Serous Adenocarcinoma

description: Primary peritoneal high-grade serous adenocarcinoma that progresses between one and six months of completing platinum therapy.


leprosy, susceptibility to, 5

description: Any leprosy in which the cause of the disease is a mutation in the TLR1 gene.


vascular cancer

description: A malignant neoplasm arising from the blood vessels.


great vessel cancer

description: A malignant neoplasm arising from the great vessels.


Malignant Inferior Vena Cava Neoplasm

description: A malignant neoplasm involving the inferior vena cava.


pulmonary artery choriocarcinoma

description: A rare choriocarcinoma that arises from a pulmonary artery.


Malignant Superior Vena Cava Neoplasm

description: A malignant neoplasm involving the superior vena cava.


superior vena cava leiomyosarcoma

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


Benign neoplasm of great vessels

description: A neoplasm that arises from the great vessels and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.


aortic malignant tumor

description: A cancer that involves the aorta.


FARNESOL

The (2-trans,6-trans)-stereoisomer of  farnesol.


The (2E,6Z)-stereoisomer of farnesol.


name: autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction


Metastatic Malignant Glomus Tumor

description: A malignant glomus tumor that has spread from its original site of growth to another anatomic site.


Locally Advanced Malignant Glomus Tumor

description: A malignant glomus tumor that has spread from its original site of growth to nearby tissues or lymph nodes.


Unresectable Malignant Glomus Tumor

description: A malignant glomus tumor that is not amenable to surgical resection.


Refractory Malignant Glomus Tumor

description: A malignant glomus tumor that is resistant to treatment.


Stage III Fallopian Tube Cancer AJCC v6

description: Stage III includes: (T3, N0, M0); IIIA (T3a, N0, M0); IIIB (T3b, N0, M0); IIIC (T3c, N0, M0).  T3: Tumor involves one or both fallopian tubes, with peritoneal implants outside the pelvis.  T3a: Microscopic peritoneal metastasis outside the pelvis.  T3b: Macroscopic peritoneal metastasis outside the pelvis 2cm or less in greatest dimension.  T3c: Peritoneal metastasis more than 2cm in diameter. (AJCC 6th ed.)


Stage IA2 Lung Cancer AJCC v8

description: Stage IA2 includes: T1b, N0, M0. T1b: Tumor measuring more than 1 cm but 2 cm or less in greatest dimension. N0: No regional lymph node metastases. M0: No distant metastasis. (AJCC 8th ed.)


name: ocular dysgenesis caused by defects in PAX6 regulation

description: Any eye disorder in which the cause of the disease is a variant in the PAX6 gene itself or a variant within another locus that results in defective regulation of the PAX6 gene.


name: Metastatic malignant neoplasm to prostate

description: The spread of a malignant neoplasm to the prostate gland from an adjacent or distant anatomic site.


name: Metastatic Malignant Neoplasm in the Male Reproductive System

description: The spread of a malignant neoplasm to the male reproductive system from an adjacent or distant anatomic site.


Secondary Prostate Urothelial Carcinoma

description: A transitional cell carcinoma that has spread to the prostate gland directly from the bladder.


name: Metastatic malignant neoplasm to seminal vesicle

description: The spread of a malignant neoplasm to the seminal vesicle from an adjacent or distant anatomic site.


Metastatic malignant neoplasm to testis

description: A malignant neoplasm that has spread to the testis from another anatomic site.


name: Metastatic malignant neoplasm to epididymis

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


Metastatic malignant neoplasm to penis

description: The spread of a malignant neoplasm to the penis from an adjacent or distant anatomic site.


description: A cholangiocarcinoma that has developed following infection with Opisthorchis viverrini.


name: Stage 0 Hilar Cholangiocarcinoma AJCC v8

description: Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ/high grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Locally Advanced Distal Bile Duct Carcinoma

description: Distal bile duct carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


name: Stage IVB Intrahepatic Cholangiocarcinoma AJCC v7

description: Stage IVB includes: Any T, Any N, M1.  M1: Distant metastasis. (from AJCC 7th Ed.)


name: Stage IA Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage IA includes: T1a, N0, M0. T1a: Solitary tumor equal or less than 5 cm without vascular invasion.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Cholangiocarcinoma resectable

description: Cholangiocarcinoma that is amenable to surgical resection.


Metastatic Bile Duct Carcinoma

description: A carcinoma that arises from the intrahepatic or extrahepatic bile ducts and has metastasized to other anatomic sites.


name: Advanced Extrahepatic Bile Duct Carcinoma

description: Extrahepatic bile duct carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Stage IVB Hilar Cholangiocarcinoma AJCC v8

description: Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)


name: Stage IB Distal Bile Duct Cancer AJCC v7

description: Stage IB includes: T2, N0, M0. T2: Tumor invades beyond the wall of the bile duct.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Localized Extrahepatic Bile Duct Carcinoma

description: A carcinoma that arises from the extrahepatic bile ducts and it has not spread to other anatomic sites.


name: Stage IIIB Hilar Cholangiocarcinoma AJCC v7

description: Stage IIIB includes: T1-3, N1, M0. T1: Tumor confined to the bile duct, with extension up to the muscle layer or fibrous tissue.  T2a: Tumor invades beyond the wall of the bile duct to surrounding adipose tissue.  T2b: Tumor invades adjacent hepatic parenchyma.  T3: Tumor invades unilateral branches of the portal vein or hepatic artery.  N1: Regional lymph node metastasis (including nodes along the cystic duct, common bile duct, hepatic artery, and portal vein).  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Hilar Cholangiocarcinoma by AJCC v7 Stage

description: A term that refers to the staging of hilar cholangiocarcinoma according to the American Joint Committee on Cancer, 7th edition.


Cholangiocarcinoma non-resectable

description: Cholangiocarcinoma that is not amenable to surgical resection.


name: Stage IVA Intrahepatic Cholangiocarcinoma AJCC v7

description: Stage IVA includes: (T4, N0, M0); (Any T, N1, M0). T4: Tumor with periductal invasion. N0: No regional lymph node metastasis.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Distal Bile Duct Adenocarcinoma

description: An adenocarcinoma that arises from the common bile duct distal to the insertion of the cystic duct.


name: Clear Cell Intrahepatic Cholangiocarcinoma

description: A morphologic variant of intrahepatic cholangiocarcinoma composed of malignant glandular epithelium, an abundant fibrous stroma, and the presence of clear cells. Clinical symptoms include abdominal pain, weight loss and malaise.


Stage I Distal Bile Duct Cancer AJCC v8

description: Stage I includes: T1, N0, M0. T1: Tumor invading the bile duct wall with a depth less than 5 mm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Metastatic Hilar Cholangiocarcinoma

description: Hilar cholangiocarcinoma that has spread from its original site of growth to another anatomic site.


name: Stage IIIC Hilar Cholangiocarcinoma AJCC v8

description: Stage IIIC includes: Any T, N1, M0. N1: One to three positive lymph nodes typically involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Unresectable Distal Bile Duct Adenocarcinoma

description: Distal bile duct adenocarcinoma that is not amenable to surgical resection.


name: Recurrent Distal Bile Duct Adenocarcinoma

description: The reemergence of distal bile duct adenocarcinoma after a period of remission.


name: Extrahepatic Bile Duct Neuroendocrine Carcinoma

description: An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. The mitotic count is more than 20 per 10 HPF. It is classified as either small or large cell neuroendocrine carcinoma based on the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm.


name: Stage I Hilar Cholangiocarcinoma AJCC v7

description: Stage I includes: T1, N0, M0. T1: Tumor confined to the bile duct, with extension up to the muscle layer or fibrous tissue.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Locally Advanced Unresectable Cholangiocarcinoma

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


name: Stage IV Hilar Cholangiocarcinoma AJCC v8

description: Stage IV includes: IVA: (Any T, N2, M0); IVB: (Any T, Any N, M1). N2: Four or more positive lymph nodes involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


Bile duct cancer resectable

description: Extrahepatic bile duct carcinoma that is amenable to surgical removal.


Locally Advanced Bile Duct Carcinoma

description: A bile duct carcinoma that has spread to nearby tissues or lymph nodes.


Metastatic cholangiocarcinoma

description: A cholangiocarcinoma that has metastasized to other anatomic sites.


Advanced Bile Duct Carcinoma

description: A carcinoma that arises from the intrahepatic or extrahepatic bile ducts and has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Stage IVA Hilar Cholangiocarcinoma AJCC v7

description: Stage IVA includes: T4, N0-1, M0. T4: Tumor invades the main portal vein or its branches bilaterally; or the common hepatic artery; or the second-order biliary radicals bilaterally; or unilateral second-order biliary radicals with contralateral portal vein or hepatic artery involvement.  N0: No regional lymph node metastasis.  N1: Regional lymph node metastasis (including nodes along the cystic duct, common bile duct, hepatic artery, and portal vein).  M0: No distant metastasis.  (from AJCC 7th Ed.)


name: Locally Advanced Intrahepatic Cholangiocarcinoma

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


name: Metastatic Distal Bile Duct Adenocarcinoma

description: Distal bile duct adenocarcinoma that has spread from its original site of growth to another anatomic site.


name: intestinal type adenocarcinoma of extrahepatic bile duct

description: An adenocarcinoma that arises from the extrahepatic bile ducts.  It is characterized by the presence of neoplastic tubular glands lined by columnar cells or neoplastic glands lined by goblet cells.


Bile duct cancer recurrent

description: The reemergence of bile duct carcinoma after a period of remission.


name: Stage III Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage III includes: IIIA: (T3, N0, M0); IIIB: (T4, N0, M0); (Any T, N1, M0). T3: Tumor perforating the visceral peritoneum. T4: Tumor involving local extrahepatic structures by direct invasion. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage IV Distal Bile Duct Cancer AJCC v8

description: Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)


description: Intrahepatic cholangiocarcinoma that has metastasized to a limited number of sites.


name: Stage III Intrahepatic Cholangiocarcinoma AJCC v7

description: Stage III includes: T3, N0, M0. T3: Tumor perforating the visceral peritoneum or involving the local extra hepatic structures by direct invasion. N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Stage IIIA Distal Bile Duct Cancer AJCC v8

description: Stage IIIA includes: (T1, N2, M0); (T2, N2, M0); (T3, N2, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Refractory Bile Duct Carcinoma

description: Bile duct carcinoma that is resistant to treatment.


name: Stage IIIB Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage IIIB includes: (T4, N0, M0); (Any T, N1, M0). T4: Tumor involving local extrahepatic structures by direct invasion. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


description: The reemergence of intrahepatic cholangiocarcinoma after a period of remission.


name: Recurrent Extrahepatic Bile Duct Carcinoma

description: The reemergence of an extrahepatic bile duct carcinoma after a period of remission.


name: Refractory Extrahepatic Bile Duct Carcinoma

description: Extrahepatic bile duct carcinoma that is resistant to treatment.


name: anaplastic carcinoma of extrahepatic bile duct

description: A carcinoma without evidence of differentiation arising from the extrahepatic bile ducts.


name: Hilar Cholangiocarcinoma by AJCC v8 Stage

description: A term that refers to the staging of hilar cholangiocarcinoma according to the American Joint Committee on Cancer, 8th edition. Hilar well-differentiated neuroendocrine tumors and sarcomas are not staged using this staging system. (from AJCC 8th Ed.)


name: Stage 0 Intrahepatic Cholangiocarcinoma AJCC v7

description: Stage 0 includes: Tis, N0, M0.  Tis: Carcinoma in situ (intraductal tumor).  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Stage II Distal Bile Duct Cancer AJCC v8

description: Stage II includes: IIA: (T1, N1, M0); (T2, N0, M0); IIB: (T2, N1, M0); (T3, N0, M0); (T3, N1, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage IVA Hilar Cholangiocarcinoma AJCC v8

description: Stage IVA includes: Any T, N2, M0. N2: Four or more positive lymph nodes involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage I Hilar Cholangiocarcinoma AJCC v8

description: Stage I includes: T1, N0, M0. T1: Tumor confined to the bile duct, with extension up to the muscle layer or fibrous tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage II Hilar Cholangiocarcinoma AJCC v8

description: Stage II includes: T2a-b, N0, M0. T2a: Tumor invading beyond the wall of the bile duct to surrounding adipose tissue. T2b: Tumor invading adjacent hepatic parenchyma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage II Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage II includes: T2, N0, M0. T2: Solitary tumor with intrahepatic vascular invasion, or multiple tumors, with or without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Bile Duct Papillary Neoplasm with an Associated Invasive Carcinoma

description: An intraductal papillary neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component.


name: Intrahepatic Cholangiocarcinoma by AJCC v8 Stage

description: A term that refers to the staging of intrahepatic cholangiocarcinoma according to the American Joint Committee on Cancer, 8th edition.


name: Stage IV Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)


name: Stage IIB Distal Bile Duct Cancer AJCC v7

description: Stage IIB includes: (T1, N1, M0); (T2, N1, M0); (T3, N1, M0).  T1: Tumor confined to the bile duct histologically.  T2: Tumor invades beyond the wall of the bile duct. T3: Tumor invades the gallbladder, pancreas, duodenum, or other adjacent organs without involvement of the celiac axis or the superior mesenteric artery.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Stage IIIA Hilar Cholangiocarcinoma AJCC v8

description: Stage IIIA includes: T3, N0, M0. T3: Tumor invading unilateral branches of the portal vein or hepatic artery. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Distal Bile Duct Cancer by AJCC v8 Stage

description: A term that refers to the staging of distal bile duct cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to bile duct adenocarcinomas, biliary intraepithelial neoplasia, high-grade neuroendocrine carcinomas, and papillary carcinomas that arise from the distal bile duct. Tumors arising in the ampulla of Vater, sarcomas, and well-differentiated neuroendocrine tumors (carcinoids) are not staged using this staging system. (from AJCC 8th Ed.)


name: Metastatic Extrahepatic Bile Duct Carcinoma

description: Extrahepatic bile duct carcinoma that has spread from its original site of growth to another anatomic site.


name: Extrahepatic Bile Duct Adenocarcinoma, Biliary Type

description: A well or moderately differentiated adenocarcinoma that arises from the extrahepatic bile ducts.  It is characterized by the presence of malignant tubular glands.


name: Stage IB Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage IB includes: T1b, N0, M0. T1b: Solitary tumor larger than 5 cm without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: carcinosarcoma of extrahepatic bile duct

description: A carcinoma that arises from the extrahepatic bile ducts and it is characterized by the presence of a sarcomatous component.


name: Stage IV Distal Bile Duct Cancer AJCC v7

description: Stage IV includes: Any T, Any N, M1. M1: Distant metastasis.  (from AJCC 7th Ed.)


name: Stage IIB Distal Bile Duct Cancer AJCC v8

description: Stage IIB includes: (T2, N1, M0); (T3, N0, M0); (T3, N1, M0). T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage 0 Hilar Cholangiocarcinoma AJCC v7

description: Stage 0 includes: Tis, N0, M0.  Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Stage IA Distal Bile Duct Cancer AJCC v7

description: Stage IA includes: T1, N0, M0. T1: Tumor confined to the bile duct histologically.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Locally Advanced Extrahepatic Bile Duct Carcinoma

description: Extrahepatic bile duct carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Unresectable Bile Duct Carcinoma

description: Bile duct carcinoma that is not amenable to surgical resection.


name: Stage IIIB Distal Bile Duct Cancer AJCC v8

description: Stage IIIB includes: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0). T4: Tumor involving the celiac axis, superior mesenteric artery, and/or common hepatic artery. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage IVB Hilar Cholangiocarcinoma AJCC v7

description: Stage IVB includes: (Any T, N2, M0); (Any T, Any N, M1).  N2: MetastasIs to periaortic, pericaval, superior mesenteric artery, and/or celiac artery lymph nodes.  M0: No distant metastasis.  M1: Distant metastasis. (from AJCC 7th Ed.)