Stage IA Vaginal Cancer AJCC v8

Stage IA includes: T1a, N0, M0. T1a: Tumor confined to the vagina, measuring 2.0 cm or less. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage I Vaginal Cancer AJCC v8

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

Stage I includes: IA: T1a, N0, M0; IB: T1b, N0, M0. T1a: Tumor confined to the vagina, measuring 2.0 cm or less. T1b: Tumor confined to the vagina, measuring more than 2.0 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IB Vaginal Cancer AJCC v8

Stage IB includes: T1b, N0, M0. T1b: Tumor confined to the vagina, measuring more than 2.0 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Neutrophil Count 1000

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

Indicates a neutrophil count of at least 1000 per cubic millimeter.


Non-Neoplastic Chronic Lower Respiratory System Disorder

A non-neoplastic longstanding disorder of the lower respiratory system.


vulvar proximal-type epithelioid sarcoma

An epithelioid sarcoma of the proximal type involving the vulva.


Abnormality of the thenar eminence

An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb.


Small thenar eminence

Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.


Decreased renal tubular phosphate excretion


DNA polymerase beta unacetylated 1 (human)

A DNA polymerase beta (human) that lacks acetylation on the residue equivalent to Lys-72 of the amino acid sequence represented by UniProtKB:P06746. UniProtKB:P06746, Lys-72, PR:000026291.


delta-type opioid receptor isoform 1 (rat)

A delta-type opioid receptor isoform 1 that is encoded in the genome of rat.


Refractory Testicular Lymphoma

Testicular lymphoma that is resistant to treatment.


testicular lymphoma

A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site.


Recurrent Testicular Lymphoma

The reemergence of testicular lymphoma after a period of remission.


Testicular Follicular Lymphoma

A distinctive variant of follicular lymphoma arising from the testis. It has been reported with higher frequency in children, but is also seen rarely in adults. It differs biologically from nodal follicular lymphoma because it lacks evidence of the BCL2 translocation. It is usually of high cytological grade, usually grade 3A, but has a good prognosis, even without additional therapy beyond surgical excision. (WHO 2017)


Testicular Diffuse Large B-Cell Lymphoma

A diffuse large B-cell lymphoma that arises from the testis. It predominantly affects older men. Patients usually present with a unilateral hard painless mass. Bilateral masses have been described in a minority of patients.


Testicular Nasal Type Extranodal NK/T-Cell Lymphoma

A nasal type extranodal NK/T-cell lymphoma affecting the testis. Patients usually present with unilateral testicular enlargement. Bilateral involvement is rare. The prognosis is poor.


acid ceramidase isoform h2 (human)

An acid ceramidase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13510-2.


Malignant Pancreatic Somatostatinoma

A neuroendocrine tumor that arises from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss. It displays vascular invasion and metastasizes to other anatomic sites.


Pancreatic Somatostatin-Producing Neuroendocrine Tumor

A usually malignant, somatostatin producing neuroendocrine tumor, arising from the delta cells of the pancreas.  It may or may not be associated with inappropriate secretion of somatostatin and an associated clinical syndrome.


pancreatic somatostatinoma

A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss.


major salivary gland carcinoma

A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland.


major salivary gland carcinoma ex pleomorphic adenoma

A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.


Recurrent Submandibular Gland Carcinoma

The reemergence of submandibular gland carcinoma after a period of remission.


Recurrent Parotid Gland Adenoid Cystic Carcinoma

The reemergence of parotid gland adenoid cystic carcinoma after a period of remission.


adenocarcinoma of parotid gland

An adenocarcinoma that arises from the parotid gland.  Representative examples include acinic cell carcinoma, basal cell adenocarcinoma, cystadenocarcinoma, and oncocytic carcinoma.


Stage IV Major Salivary Gland Carcinoma without Metastasis

Stage IV carcinoma of the major salivary glands without regional lymph nodes or distant metastases.


submandibular gland cancer

A malignant neoplasm involving the submandibular gland.


Submandibular Gland Squamous Cell Carcinoma

An invasive squamous cell carcinoma that arises from the submandibular gland.  It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain.


Stage IVC Major Salivary Gland Cancer AJCC v8

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


Recurrent Submandibular Gland Undifferentiated Carcinoma

The reemergence of submandibular gland undifferentiated carcinoma after a period of remission.


mucoepidermoid carcinoma of submandibular gland

A mucoepidermoid carcinoma that involves the submandibular gland.


parotid gland squamous cell carcinoma

An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain.


Recurrent Submandibular Gland Acinic Cell Carcinoma

The reemergence of submandibular gland acinic cell carcinoma after a period of remission.


Stage III Major Salivary Gland Cancer AJCC v7

Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0).  T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension.  Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes.  T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension.  N0: No regional lymph node metastasis.  N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)


Stage IV Major Salivary Gland Cancer AJCC v8

Stage IV includes: IVA (T4a, N0, M0); (T4a, N1, M0); (T0, N2, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB (T4b, Any N, M0); (Any T, N3, M0); IVC (Any T, Any N, M1). T4a: Moderately advanced disease.  Tumor invades skin, mandible, ear canal, and/or facial nerve. T0: No evidence of primary tumor. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension. T4b: Very advanced disease.  Tumor invades skull base and/or pterygoid plates and/or encases carotid artery. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(+); or more than 3 cm but not more than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-), or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-). N3: Metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or in a single ipsilateral node larger than 3 cm in greatest dimension and ENE(+); or multiple ipsilateral, contralateral, or bilateral nodes any with ENE(+). M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


Major Salivary Gland Adenocarcinoma

An adenocarcinoma that arises from the parotid gland, submandibular gland, or sublingual gland.


Submandibular Gland Acinic Cell Carcinoma

An adenocarcinoma with serous acinar cell differentiation that arises from the submandibular gland.


Submandibular Gland Undifferentiated Carcinoma

A carcinoma that arises from the submandibular gland and is characterized by the presence of undifferentiated, anaplastic malignant epithelial cells.


adenocarcinoma of sublingual gland

An adenocarcinoma that arises from the sublingual gland.


Major Salivary Gland Cancer by AJCC v8 Stage

A term that refers to the staging of major salivary gland cancer according to the American Joint Committee on Cancer, 8th edition.


Stage I Major Salivary Gland Cancer AJCC v7

Stage I includes: T1, N0, M0.  T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IVA Major Salivary Gland Cancer AJCC v7

Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Moderately advanced disease.  Tumor invades skin, mandible, ear canal, and/or facial nerve. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension.  Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes.  T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension.  T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension.  N0: No regional lymph node metastasis.  N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension.  N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension.  M0: No distant metastasis. (AJCC 7th ed.)


Recurrent Submandibular Gland Mucoepidermoid Carcinoma

The reemergence of submandibular gland mucoepidermoid carcinoma after a period of remission.


Recurrent Parotid Gland Carcinoma ex Pleomorphic Adenoma

The reemergence of parotid gland carcinoma ex pleomorphic adenoma after a period of remission.


Stage II Major Salivary Gland Cancer AJCC v8

Stage II includes: T2, N0, M0. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Recurrent Parotid Gland Carcinoma

The reemergence of parotid gland carcinoma after a period of remission.


Stage IVB Major Salivary Gland Cancer AJCC v8

Stage IVB includes: (T4b, Any N, M0); (Any T, N3, M0). T4b: Very advanced disease.  Tumor invades skull base and/or pterygoid plates and/or encases carotid artery. N0: No regional lymph node metastasis. N3: Metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or in a single ipsilateral node larger than 3 cm in greatest dimension and ENE(+); or multiple ipsilateral, contralateral, or bilateral nodes any with ENE(+). M0: No distant metastasis. (AJCC 8th ed.)


Recurrent Parotid Gland Squamous Cell Carcinoma

The reemergence of parotid gland squamous cell carcinoma after a period of remission.


carcinoma of parotid gland

A carcinoma that involves the parotid gland.


Recurrent Submandibular Gland Squamous Cell Carcinoma

The reemergence of submandibular gland squamous cell carcinoma after a period of remission.


Stage IVA Major Salivary Gland Cancer AJCC v8

Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T0, N2, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Moderately advanced disease.  Tumor invades skin, mandible, ear canal, and/or facial nerve. T0: No evidence of primary tumor. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(+); or more than 3 cm but not more than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-), or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-). M0: No distant metastasis. (AJCC 8th ed.)


sublingual gland carcinoma

A carcinoma that arises from the sublingual gland. Representative examples include cystadenocarcinoma and mucoepidermoid carcinoma.


Stage 0 Major Salivary Gland Cancer AJCC v8

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


Major Salivary Gland Squamous Cell Carcinoma

A squamous cell carcinoma that arises from the parotid or submandibular gland.


Recurrent Parotid Gland Mucoepidermoid Carcinoma

The reemergence of parotid gland mucoepidermoid carcinoma after a period of remission.


major salivary gland mucoepidermoid carcinoma

A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.


Recurrent Parotid Gland Acinic Cell Carcinoma

The reemergence of parotid gland acinic cell carcinoma after a period of remission.


major salivary gland adenoid cystic carcinoma

An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.


Major Salivary Gland Cancer by AJCC v7 Stage

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


Submandibular Gland Carcinoma ex Pleomorphic Adenoma

A carcinoma that arises from a pleomorphic adenoma in the submandibular gland.  Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months.  Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis.  In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.


Major Salivary Gland Acinic Cell Carcinoma

An adenocarcinoma with serous acinar cell differentiation that arises from the major salivary glands.  The vast majority of cases occur in the parotid gland.  Patients usually present with a slow growing mass in the parotid area.


parotid gland acinic cell carcinoma

An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area.


submandibular gland adenocarcinoma

An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma.


mucoepidermoid carcinoma of parotid gland

A mucoepidermoid carcinoma that involves the parotid gland.


parotid gland carcinoma ex pleomorphic adenoma

A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.


Stage IV Major Salivary Gland Cancer AJCC v7

Stage IV includes: IVA (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB (T4b, Any N, M0); (Any T, N3, M0); IVC (Any T, Any N, M1). T4a: Moderately advanced disease.  Tumor invades skin, mandible, ear canal, and/or facial nerve. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension.  Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes.  T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension.  T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension.  T4b: Very advanced disease.  Tumor invades skull base and/or pterygoid plates and/or encases carotid artery. N0: No regional lymph node metastasis.  N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension.  N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension.  N3: Metastasis in a lymph node, more than 6 cm in greatest dimension.  M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)


Recurrent Submandibular Gland Carcinoma ex Pleomorphic Adenoma

The reemergence of submandibular gland carcinoma ex pleomorphic adenoma after a period of remission.


Stage I Major Salivary Gland Cancer AJCC v8

Stage I includes: T1, N0, M0. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Parotid Gland Undifferentiated Carcinoma

A carcinoma that arises from the parotid gland and is characterized by the presence of undifferentiated, anaplastic malignant epithelial cells.


parotid gland adenoid cystic carcinoma

An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.


Recurrent Submandibular Gland Adenoid Cystic Carcinoma

The reemergence of submandibular gland adenoid cystic carcinoma after a period of remission.


Stage III Major Salivary Gland Cancer AJCC v8

Stage III includes: (T3, N0, M0); (T0, N1, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0).  T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension.  T0: No evidence of primary tumor. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension.  N0: No regional lymph node metastasis.  N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(-). M0: No distant metastasis. (AJCC 8th ed.)


Stage IVC Major Salivary Gland Cancer AJCC v7

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


Stage II Major Salivary Gland Cancer AJCC v7

Stage II includes: T2, N0, M0. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Recurrent Parotid Gland Undifferentiated Carcinoma

The reemergence of parotid gland undifferentiated carcinoma after a period of remission.


submandibular gland adenoid cystic carcinoma

An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.


Stage IVB Major Salivary Gland Cancer AJCC v7

Stage IVB includes: (T4b, Any N, M0); (Any T, N3, M0).  T4b: Very advanced disease.  Tumor invades skull base and/or pterygoid plates and/or encases carotid artery. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension.  M0: No distant metastasis. (AJCC 7th ed.)


autosomal recessive osteopetrosis 4

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene.


AIDS-Related Plasmablastic Lymphoma of the Oral Mucosa

A plasmablastic oral mucosa lymphoma in a patient with acquired immunodeficiency syndrome.


AIDS-Related Plasmablastic Lymphoma of Mucosa Site

A plasmablastic mucosal site lymphoma in a patient with acquired immunodeficiency syndrome.


Plasmablastic Lymphoma of the Oral Mucosa

A plasmablastic lymphoma arising in the oral cavity, usually associated with HIV infection.


localized junctional epidermolysis bullosa, non-Herlitz type

Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails.


junctional epidermolysis bullosa, non-Herlitz type

Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.


generalized junctional epidermolysis bullosa non-Herlitz type

Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.


Typical perifissural nodule

A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical).


Leukonychia

White discoloration of the nails.


Abnormal hypopharynx morphology

A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus.


Bifid epiglottis

A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation.


Abnormal epiglottis morphology

An abnormality of the epiglottis.


Hypoplasia of the epiglottis

Hypoplasia of the epiglottis.


Aplasia/Hypoplasia of the Epiglottis

This term applies if the Epiglottis is absent or hypoplastic.


Aplasia of the epiglottis

Absence of the epiglottis.


carbonic anhydrase 1 isoform 1 (human)

A vertebrate-type carbonic anhydrase 1 isoform 1 that is encoded in the genome of human.


carbonic anhydrase 1, initiator methionine removed form (human)

A carbonic anhydrase 1 (human) that has had the initiator methionine removed. UniProtKB:P00915, 2-261.


ephrin type-B receptor 4 isoform h2 (human)

An ephrin type-B receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54760-2.


acute intestinal ischemia

Ischemia of the intestine that is rapid in onset.


chronic gonococcal salpingitis

Chronic form of gonococcal salpingitis.


Hypergastrinemia

An elevated amount of gastrin in the blood.


Abnormal circulating gastrin concentration

An abnormal concentration of gastrin in the blood.


Breast Cellular Fibroadenoma

A fibroadenoma characterized by the presence of a pericanalicular growth pattern, increased stromal cellularity, and less than 2 mitoses per 10 high-power fields.


A disorder seen following cancer chemotherapy. It typically manifests a few years after initiation of epipodophyllotoxin chemotherapy. Mutagenic potential of these non-intercalating DNA topoisomerase II inhibitors is believed to be increased with concurrent use of asparaginase or granulocyte colony-stimulating factor. Balanced translocations involving chromosomal bands 11q23 and 21q22 are commonly associated with this disorder. Clinical signs may include fatigue, dyspnea, bruising and frequent infections. Clinical course usually progresses to acute myeloid leukemia though most epipodophyllotoxin-related leukemias do not have an antecedent myelodysplastic phase. Prognosis is dismal with survivability usually less than one year.


liver inflammatory myofibroblastic tumor

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


sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human)

A sex hormone-binding globulin isoform with conserved glycosylation sites (human) that has had the signal peptide removed and has been post-translationally modified to include O-glycosylation and N-glycosylation on residues equivalent to Thr-36 and Asn-396, respectively, of the amino acid sequence represented by UniProtKB:P04278-1. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, MOD:00831.


sex hormone-binding globulin isoform, signal peptide removed glycosylated 13 (human)

A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7846. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7846.


sex hormone-binding globulin isoform, signal peptide removed glycosylated 15 (human)

A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7764. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7764.


sex hormone-binding globulin isoform, signal peptide removed glycosylated 12 (human)

A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7763. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7763.


sex hormone-binding globulin isoform, signal peptide removed glycosylated 10 (human)

A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7863. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7863.


sex hormone-binding globulin isoform, signal peptide removed glycosylated 14 (human)

A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7674. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7674.


sex hormone-binding globulin isoform, signal peptide removed glycosylated 11 (human)

A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7834. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7834.


phosphoenolpyruvate carboxykinase deficiency, cytosolic

PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2).


Eventration

A localized protrusion of a structure into an adjacent structure or cavity.


diaphragmatic eventration

A congenital or acquired abnormality characterized by elevation of the hemidiaphragm.


Epidermal Growth Factor Receptor Inhibitor-Induced Acneiform Lesion

Acneiform dermatitis caused by epidermal growth factor receptor inhibitory therapy in a dose-dependent manner.


EBV-Related Carcinoma

Carcinoma that develops in individuals infected with Epstein-Barr virus (EBV), and in which there is a well-documented association between the neoplastic process and EBV.


Epstein-Barr virus-associated gastric carcinoma

Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis.


leukocyte adhesion deficiency 3

Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder.


Low Grade Pancreatic Intraepithelial Neoplasia

Pancreatic intraepithelial neoplasia characterized by the presence of low grade epithelial dysplasia.


Pancreatic Intraepithelial Neoplasia-1A

A pancreatic intraepithelial neoplasia characterized by the presence of tall columnar cells that form flat architectural patterns.  Mild cytological atypia is present.


Moderate pancreatic duct dysplasia

A pancreatic mucinous intraepithelial neoplasia characterized by the presence of papillary and less often flat architectural patterns.  Moderate cytological atypia is present with some loss of nuclear polarity, nuclear crowding or hyperchromatism.


Pancreatic Intraepithelial Neoplasia-1B

A pancreatic intraepithelial neoplasia characterized by the presence of tall columnar cells that form papillary, micropapillary, or basally pseudostratified architectural patterns.  Mild cytological atypia is present.


Pancreatic Intraepithelial Neoplasia-1

A pancreatic intraepithelial neoplasia characterized by the presence of tall columnar cells that form flat or papillary, micropapillary, and basally pseudostratified architectural patterns.  Mild cytological atypia is present.


Early balding

Loss of scalp hair at an earlier than normal age.


Grade 3 Major Visceral Artery Intra-Operative Injury, CTCAE


Grade 3 Neonatal Administration Site Complication, AE

An administration site complication adverse event in a newborn characterized by ulceration or necrosis; severe tissue damage; operative intervention indicated.


Neonatal Administration Site Complication, AE

An adverse event in a newborn characterized by local irritation or a complication at the administration site of a drug.


Grade 2 Neonatal Administration Site Complication, AE

An administration site complication adverse event in a newborn characterized by erythema with associated symptoms (e.g., edema, pain, induration, phlebitis).


Grade 5 Neonatal Administration Site Complication, AE

An administration site complication adverse event in a newborn which results in death.


Grade 4 Neonatal Administration Site Complication, AE

An administration site complication adverse event in a newborn characterized by life-threatening consequences; urgent intervention indicated.


Grade 1 Neonatal Administration Site Complication, AE

An administration site complication adverse event in a newborn characterized by painless edema.


taste receptor type 2 member 5

A taste receptor type 2 that is a translation product of the human TAS2R5 gene or a 1:1 ortholog thereof.


Patient-Specific Neoantigen-Positive Malignant Solid Neoplasm

A malignant solid neoplasm that expresses unique tumor-specific neoantigens in a single patient.


Grade 2 Myocardial Infarction, CTCAE

Asymptomatic and cardiac enzymes minimally abnormal and no evidence of ischemic ECG changes


serine/threonine-protein kinase 26 isoform h2 (human)

A serine/threonine-protein kinase 26 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9P289-2.


Retinal fold

A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.


Retinal detachments and defects, unspecified

An imperfection if the retina of the eye in association with detachment of the retina from its blood supply.


rhegmatogenous retinal detachment

Retinal detachment secondary to retinal tear or break.


Tractional retinal detachment

A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes.


chromosome 4Q32.1-q32.2 triplication syndrome


partial duplication of the long arm of chromosome 4

Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person.


distal trisomy 4q

Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.


Chronic gouty nephropathy

Chronic kidney disease resulting from deposition of urate crystals or microtophi in the medullary interstitium.


Non-Neoplastic Kidney Disorder

A non-neoplastic disorder that affects the renal parenchyma and/or renal pelvis. Representative examples include glomerulonephritis and pyelonephritis.


Minimal mesangial lupus nephritis

A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence.


Nephrotic Syndrome - ADCK4 Associated

Nephrotic syndrome attributed to mutation(s) in the ADCK4 gene.


multicystic dysplastic kidney

Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional.


Nephrotic Syndrome - MYO1E Associated

Nephrotic syndrome attributed to mutation(s) in the MYO1E gene.


karyomegalic interstitial nephritis

Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene.


Obesity Related Glomerulopathy

Diffuse glomerular (greater than 50% of glomeruli) hypertrophy (greater than 250 micron diameter) that occurs in the context of obesity.


tubulointerstitial kidney disease, autosomal dominant, 2

An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function.


Proximal tubulopathy

Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.


Membranous Nephropathy - THSD7A Induced

Membranous nephropathy due to thrombospondin type-1 domain-containing protein 7A (THSD7A) antibodies.


Pauci-Immune Glomerulonephritis - Renal Limited

Glomerulonephritis in which anti-neutrophil cytoplasm antibody (ANCA) is almost always present and vasculitis is limited to the kidney.


Acute Cortical Necrosis

Acute kidney injury caused by ischemic necrosis of the renal cortex.


steroid-resistant nephrotic syndrome

Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids.


end stage renal failure

Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min.


Nephropathy due to Ciclosporin

Kidney damage resulting from ciclosporin.


Chronic kidney disease due to hypertension

Longstanding kidney disease as a complication of hypertension.


Stage 1 chronic kidney disease

A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2).


Nephrotic Syndrome - Simian Virus 40 Associated

Nephrotic syndrome associated with a simian virus 40 infection.


Cryoglobulinemic Glomerulonephritis Secondary to Systemic Disease

Cryoglobulinemia glomerulonephritis associated with chronic disease, often inflammatory conditions.


Pierson syndrome

Pierson syndrome is characterized by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.


Nephrotic Syndrome - Human Immunodeficiency Virus Associated

Nephrotic syndrome associated with human immunodeficiency virus infection.


pyonephrosis

Pus within the collecting system of the kidney.


Uric acid nephropathy acute

Kidney damage resulting from uric acid precipitation within the renal tubules.


contrast-induced nephropathy

Kidney damage resulting from exposure to contrast agents.


Diffuse lupus nephritis

A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations.


Tubulointerstitial nephritis resulting from a drug exposure.


Renal Pelvis Fibroepithelial Polyp

A benign, mesodermal tumor located in the renal pelvis.


Nephrotic syndrome with lesion of proliferative glomerulonephritis

A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction of the glomerular capillaries due to the proliferation of mesangial cells and expansion of the mesangial matrix. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


Reflux nephropathy (disorder)

Chronic kidney damage due to vesicoureteral reflux.


Nephropathy due to Tacrolimus

Kidney damage resulting from tacrolimus.


Congenital Nephrotic Syndrome - Rubivirus Associated

Nephrotic syndrome associated with rubella, most commonly presenting in the first three months of life.


Nephrotic Syndrome - Infection Associated

Nephrotic syndrome associated with an infectious process.


Nephrotic Syndrome - SMARCAL1 Associated

Nephrotic syndrome attributed to mutation(s) in the SMARCAL1 gene.


glomerulopathy with fibronectin deposits 2

Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene.


Nephrotic Syndrome - CFH Associated

Nephrotic syndrome attributed to mutation(s) in the CFH gene.


Acute renal papillary necrosis with renal failure

Sudden and sustained deterioration of the kidney function with decreased glomerular filtration rate, and concommittant necrosis of the renal papillae; representative causes include sickle cell disease, heave analgesic use, diabetes mellitus, and pyelonephritis.


Nephrotic Syndrome - ITGA3 Associated

Nephrotic syndrome attributed to mutation(s) in the ITGA3 gene.


Pauci-Immune Glomerulonephritis associated with Microscopic Polyangiitis

Glomerulonephritis in the context of systemic, small vessel vasculitis in which anti neutrophil cytoplasm antibody (ANCA) is almost always present.


Nephropathy due to Aminoglycosides

Kidney damage resulting from aminoglycosides.


Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure.


Chronic glomerulonephritis with lesion of membranous glomerulonephritis

A slowly progressive inflammation of the glomeruli characterized by immune complex deposits on the epithelial side of the glomerular basement membrane.


Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function.


Membranous Nephropathy - Autoimmune Disorder Associated

Membranous nephropathy associated with an autoimmune disorder.


Nephrotic Syndrome - CRB2 Associated

Nephrotic syndrome attributed to mutation(s) in the CRB2 gene.


obstructive nephropathy

Renal damage and impaired renal function secondary to urinary tract obstruction.


Familial immunoglobulin A nephropathy

IgA nephropathy secondary to a genetic mutation that is transmitted from parents to offspring.


Acquired calyceal diverticulum

An out-pouching of the calyx into the renal parenchyma.


Nephrotic Syndrome - PDSS2 Associated

Nephrotic syndrome attributed to mutation(s) in the PDSS2 gene.


Nephrotic Syndrome with Lesion of Focal Glomerulosclerosis

A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by scarring of some of the glomerular capillaries. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


diffuse glomerulonephritis

Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure.


Nephrotic Syndrome - COQ2 Associated

Nephrotic syndrome attributed to mutation(s) in the COQ2 gene.


Systemic Lupus Erythematosus Nephritis Class V

Systemic lupus erythematosus nephritis, with global or segmental subepithelial immune deposits or their morphologic sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)


Hantavirus nephropathy

Tubulointerstitial hemorrhage resulting from hantavirus infection.


Henoch-Schonlein purpura nephritis

Glomerulonephritis in the context of Henoch-Schönlein purpura.


Chronic Kidney Disease due to Diabetes Mellitus

Longstanding kidney disease as a complication of diabetes.


Steroid-dependent nephrotic syndrome

A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy.


Leptospirosis Nephropathy

Interstitial nephritis due to Leptospira, which may be associated with non-oliguric acute kidney injury.


idiopathic nephrotic syndrome

Nephrotic syndrome for which no cause has been identified.


Cryoglobulinemic glomerulonephritis

Glomerulonephritis in the context of cryoglobulinemia.


Chemotherapeutic Drug - Induced Nephropathy

Kidney damage resulting from exposure to chemotherapeutic drugs.


IgM - Associated Nephropathy

A condition characterized by deposition of IgM antibody in the glomerulus.


NSAID-Induced Nephropathy

Kidney damage resulting from exposure to non-steroidal anti-inflammatory drugs (NSAIDs).


Idiopathic Membranous Glomerulopathy

Chronic degenerative changes in the kidney characterized by thickened and inflamed glomeruli and proteinurea, the cause of which is unknown.


Microcystic renal disease

A congenital renal disorder characterized by the presence of small cysts in the renal cortex and/or renal medulla.


Focal lupus nephritis

A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations


Idiopathic Renal Papillary Necrosis

Necrosis of the renal papillae, for which no underlying cause has been identified.


Diffuse glomerulosclerosis

A renal disorder characterized by glomerular damage due to ischemia. It leads to progressive deterioration of renal function.


Nephrotic Syndrome with Lesion of Persistent Glomerulonephritis

A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by a chronic inflammatory reaction in the glomerular capillaries. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


Systemic Lupus Erythematosus Nephritis Class IV G

Systemic lupus erythematosus nephritis, characterized by active or inactive diffuse, global endo- or extracapillary glomerulonephritis that involves 50% or more of all glomeruli. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)


Nephrotic Syndrome - ARHGAP24 Associated

Nephrotic syndrome attributed to mutation(s) in the ARHGAP24 gene.


chronic renal failure syndrome

Impairment of the renal function due to chronic kidney damage.


familial nephrotic syndrome

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


Stage 4 chronic kidney disease

A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2).


Advanced sclerotic lupus nephritis

A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity.


Calcineurin Inhibitor - Induced Nephropathy

Kidney damage resulting from exposure to calcineurin inhibitors.


Congenital Nephrotic Syndrome - Cytomegalovirus Associated

Nephrotic syndrome associated with a cytomegalovirus infection, most commonly presenting in the first three months of life.


Light Chain Proximal Tubulopathy without Crystals

A morphologic variant of light chain proximal tubulopathy with no evidence of crystal formation. It is characterized by acute tubular injury with no evidence lysosomal immunoglobulin crystals.


familial juvenile hyperuricemic nephropathy type 1

A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.


Nephrotic Syndrome - CD2AP Associated

Nephrotic syndrome attributed to mutation(s) in the CD2AP gene.


polycystic kidney disease 2

Autosomal dominant polycystic kidney disease caused by a mutation in PKD2.


Nephrotic Syndrome - Toxoplasmosis Associated

Nephrotic syndrome associated with a toxoplasmosis infection.


Nephrotic Syndrome - ARHGDIA Associated

Nephrotic syndrome attributed to mutation(s) in the ARHGDIA gene.


Acute glomerulonephritis

An acute inflammation of the glomeruli, generally secondary to infection or injury.


Nephrotic Syndrome - Syphilis Associated

Nephrotic syndrome associated with a syphilis infection.


Nephrotic Syndrome - NPHS2 Associated

Nephrotic syndrome attributed to mutation(s) in the NPHS2 gene.


C3 Glomerulopathy with Monoclonal Gammopathy

A subset of C3 glomerulopathy in which there is an associated finding of monoclonal gammopathy.


Nephrotic Syndrome - CUBN Associated

Nephrotic syndrome attributed to mutation(s) in the CUBN gene.


crescentic glomerulonephritis

A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months.


Malignant Hypertensive Nephropathy

Hypertensive nephropathy secondary to malignant hypertension.


Systemic Lupus Erythematosus Nephritis Class IV S

Systemic lupus erythematosus nephritis characterized by active or inactive diffuse, segmental endo- or extracapillary glomerulonephritis that involves 50% or more of all glomeruli. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)


Lithium - Induced Nephropathy

Kidney damage resulting from lithium which may include distal or collecting tubular cysts, proteinuria, interstitial nephritis and nephrogenic diabetes insipidus.


Secondary Collapsing Glomerulopathy

Collapsing glomerulopathy for which an underlying cause has been identified.


Postpartum acute renal failure

Renal failure that occurs postpartum due to any partum problem (hemorrhage, sepsis, preeclampsia).


Nephrotic Syndrome - INF2 Associated

Nephrotic syndrome attributed to mutation(s) in the INF2 gene.


Congenital Nephrotic Syndrome - Toxoplasma Associated

Nephrotic syndrome associated with toxoplasmosis, most commonly presenting in the first three months of life.


xanthogranulomatous pyelonephritis

Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli.


Nephrotic Syndrome - ANLN Associated

Nephrotic syndrome attributed to mutation(s) in the ANLN gene.


Acute cellular allograft nephropathy

A sudden onset of T-cell mediated immune response occurring after transplantation, directed against donor kidney alloantigens.


HIV-associated nephropathy

Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings.


Nephrotic Syndrome - EMP2 Associated

Nephrotic syndrome attributed to mutation(s) in the EMP2 gene.


Membranous Nephropathy - Malignancy Associated

Membranous nephropathy in the context of malignancy.


kidney hypertrophy

Global enlargement of the renal parenchyma in one or both kidneys.


Nephrotic Syndrome with Lesion of Membranous Glomerulonephritis

A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction in the glomerular capillaries due to the deposition of immune complexes and subsequent thickening of the glomerular basement membrane. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


acute urate nephropathy

Urolithiasis in which the composition of the stones is predominantly urate.


Congenital Nephrotic Syndrome - Focal Segmental Glomerulosclerosis

Nephrotic syndrome within the first three months of life, characterized by scarring of the glomerulus, in which only part of the glomerulus is involved, and less than 50% of the glomeruli are affected.


Ischemic nephropathy

Nephropathy due to hypoperfusion of the kidney.


Nephrotic Syndrome - Frequently Relapsing

Nephrotic syndrome in which there is relapse occurring two or more times in the first six months, or four or more times in a year.


Nephrotic Syndrome - Infrequently Relapsing

Nephrotic syndrome in which there is a relapse occurring less than twice in the first six months, or less than four times in a year.


Balkan nephropathy

A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease.


Nephrotic Syndrome - Hepatitis B Virus Associated

Nephrotic syndrome associated with hepatitis B.


nephrotic syndrome of childhood - steroid sensitive

Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids.


Arterionephrosclerosis

Scarring and atrophy of the renal cortex that occurs in hypertensive patients and in old age.


renal artery disease

A disease involving the renal artery.


Dent disease

Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.


Nephropathy due to Cisplatin

Kidney damage resulting from cisplatin.


Membranous nephropathy associated with infectious disease.


cystinosis

Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.


Acute humoral allograft nephropathy

A sudden onset of B-cell mediated immune response occurring after transplantation, directed against donor kidney alloantigens.


Nephropathy Associated with Rhabdomyolysis

Nephropathy associated with rhabdomyolysis.


IgA Nephropathy, Infection-associated

IgA nephropathy co-occurring with infectious disease.


acute kidney tubular necrosis

Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics.


Nephrotic Syndrome - LAMB2 Associated

Nephrotic syndrome attributed to mutation(s) in the LAMB2 gene.


Primary Focal Segmental Glomerulosclerosis

Focal scarring of the glomerulus, which may result in isolated proteinuria or nephrotic syndrome, which affects only part of the glomerulus and only some of the glomeruli. The condition is considered primary in cases for which no underlying cause has been identified.


autosomal recessive polycystic kidney disease

An inherited disorder characterized by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.


Nephropathy due to Analgesic Drugs

Kidney damage resulting from analgesic drugs.


Complex renal cyst

A renal cyst characterized by epithelium lined space (squamous/columnar) with septations.


C3 glomerulonephritis

Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease.


polycystic kidney disease 1

Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene.


Nephrotic Syndrome - Cytomegalovirus Associated

Nephrotic syndrome associated with a cytomegalovirus infection.


Tip Lesion Glomerulopathy

Segmental glomerulopathy of localized intracapillary foam cells with adjacent, often vacuolated glomerular epithelial cells confluent to the origin of the proximal tubule.


Bone Marrow Transplantation Nephropathy

Kidney dysfunction resulting from complications of bone marrow transplantation.


Schistosomiasis Nephropathy

Kidney disease associated with Schistosoma infection. Injury to the kidney may be a result of immunologically mediated glomerular or interstitial injury and/or a result of reflux nephropathy.


acute diffuse glomerulonephritis

An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure.


Secondary focal segmental glomerulosclerosis

Focal segmental glomerulosclerosis due to another medical condition.


Bisphosphonate - Induced Nephropathy

Kidney damage resulting from exposure to bisphosphonates.


Stage 2 chronic kidney disease

A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2).


nephronophthisis

Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.


Nephrotic Syndrome - DGKE Associated

Nephrotic syndrome attributed to mutation(s) in the DGKE gene.


Nephrotic Syndrome - TRPC6 Associated

Nephrotic syndrome attributed to mutation(s) in the TRPC6 gene.


nephronophthisis 1

Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.


Calcineurin Nephrotoxicity

Kidney injury caused by calcineurin inhibitor immunosuppressive therapy which may lead to diminished kidney function.


Primary Collapsing Glomerulopathy

Collapsing glomerulopathy for which no underlying cause has been identified.


immunotactoid glomerulopathy

Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases.


Nephrotic Syndrome - LMX1B Associated

Nephrotic syndrome attributed to mutation(s) in the LMX1B gene.


Drug-induced Nephropathy

Kidney damage resulting from exposure to drugs.


Congenital Nephrotic Syndrome - Treponema Pallidum Associated

Nephrotic syndrome associated with syphilis, most commonly presenting in the first three months of life.


Radiation Nephropathy

Tissue damage to the glomerulus and renal tubules resulting from irradiation, which is characterized by vascular endothelial damage, mesangial damage, platelet aggregation in the capillary loops, thickening of the glomerular arteriolar intimal layer, and atrophic tubules.


Focal Segmental Glomerulosclerosis Collapsing Variant

A variant of FSGS characterized by glomerular tuft collapse, which may result in scarring. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.)


Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function.


Focal Segmental Glomerulosclerosis Cellular Variant

A variant of FSGS characterized by hypercellularity of the glomerulus; this excludes the tip and collapsing FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.)


Membranous Nephropathy - Drug Associated

Membranous nephropathy associated with exposure to a drug.


Focal AND segmental proliferative glomerulonephritis

Glomerulonephritis characterized by proliferation of endothelial or mesangial cells, affecting the glomeruli in a focal and segmental pattern.


Multiple glomerular cysts

The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule.


Chronic glomerulonephritis with lesion of proliferative glomerulonephritis

A slowly progressive inflammation of the glomeruli occurring status post infection with streptococcus.


exudative glomerulonephritis

Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes.


Nephrotic Syndrome - PLCE1 Associated

Nephrotic syndrome attributed to mutation(s) in the PLCE1 gene.


pyelitis

Inflammation of the renal pelvis.


Membranous Nephropathy - Secondary

Membranous nephropathy due to another medical condition.


Nephrotic Syndrome - Relapse

Nephrotic syndrome characterized by recurrent proteinuria by dipstick of first morning urine: 2+ or greater for three days or longer, or the presence of edema with proteinuria of any duration following a remission.


Nephrotic Syndrome - ACTN4 Associated

Nephrotic syndrome attributed to mutation(s) in the ACTN4 gene.


Proliferative Glomerulonephritis with Monoclonal IgG Deposits

A sub-type of monoclonal gammopathy of renal significance, characterized by restriction to a single immunoglobulin G heavy chain subclass and a single light chain isotype. Light microscopy often shows an endocapillary proliferative or membranoproliferative glomerulopathy. Electron microscopy reveals electron-dense subendothelial and mesangial deposits.


Nephrotic Syndrome with Lesion of Hypocomplementemic Glomerulonephritis

Nephrotic syndrome caused by glomerulonephritis associated with complement deficiency. It can result from an acute post-infectious glomerulonephritis, membranoproliferative glomerulonephritis or lupus glomerulonephritis.


Prevalent Nephrotic Syndrome

Pre-existing nephrotic syndrome.


Antimicrobial - Induced Nephropathy

Kidney damage resulting from exposure to antimicrobials.


Chronic Kidney Disease, Stage 0

Long-standing and persistent renal disease without kidney damage.


Glomerulomegaly

Abnormally large size of glomeruli.


IgA nephropathy associated with liver disease

IgA nephropathy secondary to hepatobiliary disease.


Nephrotic Syndrome - Parvovirus B19 Associated

Nephrotic syndrome associated with a parvovirus B19 infection.


Nephrotic Syndrome - MEFV Associated

Nephrotic syndrome attributed to mutation(s) in the MEFV gene.


Nephrotic Syndrome - Epstein-Barr Virus Associated

Nephrotic syndrome associated with Epstein-Barr infection.


Nephropathy due to Amphotericin

Kidney damage resulting from amphotericin.


Nephrotic Syndrome - NEIL1 Associated

Nephrotic syndrome attributed to mutation(s) in the NEIL1 gene.


congenital nephrotic syndrome, Finnish type

Congenital nephrotic syndrome, Finnish type is characterized by protein loss beginning during fetal life.


Pauci-Immune Glomerulonephritis - ANCA Negative

Glomerulonephritis with paucity of glomerular staining for immunoglobulins that may be accompanied by systemic, small vessel vasculitis containing no anti neutrophil cytoplasm antibody (ANCA).


Nephrotic Syndrome - COQ6 Associated

Nephrotic syndrome attributed to mutation(s) in the COQ6 gene.


oligomeganephronia

Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.


Simple renal cyst

An isolated cyst of the kidney.


medullary sponge kidney

Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics.


Nephrotic Syndrome-Remission, Partial Remission

Nephrotic syndrome in which proteinuria has decreased by at least 50% and below the nephrotic range cutoff from disease onset, but does not normalize following a defined course of treatment.


Glomerulonephritis characterized by endocapillary proliferation and the presence of inflammatory cells affecting 50% or more of all glomeruli.


Stage 3 chronic kidney disease

A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).


Nephrotic Syndrome - Hepatitis C Virus Associated

Nephrotic syndrome associated with a hepatitis C infection.


nephrotic syndrome, type 4

Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis.


Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Segmental scarring of the glomerulus, which may result in isolated proteinuria or nephrotic syndrome, which affects only part of the glomerulus and only some of the glomeruli. Additionally, the Not Otherwise Specified classification excludes FSGS tip, perihilar, collapsing, and cellular variants. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.)


Nephrotic Syndrome - WT1 Associated

Nephrotic syndrome attributed to mutation(s) in the WT1 gene.


Nephrotic Syndrome - SCARB2 Associated

Nephrotic syndrome attributed to mutation(s) in the SCARB2 gene.


Membranous lupus nephritis

A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis


Nephrotic Syndrome with Lesion of Endothelial Glomerulonephritis

A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction in the endovascular lining of the glomerular capillaries. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


Mesangial proliferative lupus nephritis

A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy.


Infundibular Stenosis

Narrowing of the infundibulum to the calyx, which produces an impediment to urine flow.


Collapsing glomerulopathy

Segmental or global glomerulopathy with tuft wrinkling, collapse and contraction without increased matrix or cells, but with adjacent podocyte hypertrophy and hyperplasia.


Membranous Nephropathy - NEP Induced

Membranous nephropathy due to neural endopeptidase (NEP) antibodies.


Congenital Nephrotic Syndrome - Infection Associated

Nephrotic syndrome presenting within the first three months of life, and which is associated with an infectious process.


acute proliferative glomerulonephritis

Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus.


subacute glomerulonephritis

A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis.


Type I Cryoglobulinemic Glomerulonephritis

Glomerulonephritis caused by cryoglobulins which are composed of monoclonal immunoglobulins IgG, IgA, or IgM. It occurs in patients with lymphoproliferative disorders.


immune-complex glomerulonephritis

Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function.


Membranous Nephropathy - PLA2R Induced

Membranous nephropathy due to phospholipase 2 receptor (PLA2R) antibodies.


Focal Segmental Glomerulosclerosis Tip Lesion Variant

A variant of FSGS characterized by scarring of the glomerulus adjacent to the origin of the proximal convoluted tubule; this occurs in the absence of collapsing and perihilar FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.)


Nephropathy induced by heavy metals

Damage to the kidney and renal tubules resulting from heavy metal exposure.


Nephrotic Syndrome - ITGB4 Associated

Nephrotic syndrome attributed to mutation(s) in the ITGB4 gene.


Focal Segmental Glomerulosclerosis Perihilar Variant

A variant of FSGS characterized by scarring of the glomerulus where at least 50% of the scars are adjacent to the hilum and must have hyalinosis; this excludes cellular, tip and collapsing FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.)


COVID-19-Associated Acute Kidney Injury

Acute kidney injury caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).


mTOR Inhibitor - Induced Nephropathy

Kidney damage resulting from exposure to mechanistic target of rapamycin (mTOR) kinase inhibitors.


Nephrotic syndrome with lesion of membranoproliferative glomerulonephritis

A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction of the glomerular capillaries due to the proliferation of mesangial cells, expansion of the mesangial matrix and deposition of immune complexes causing subsequent thickening of the glomerular basement membrane. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


Nephrotic Syndrome - PTPRO Associated

Nephrotic syndrome attributed to mutation(s) in the PTPRO gene.


focal embolic glomerulonephritis

Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia.


Pauci-Immune Glomerulonephritis associated with Eosinophilic Granulomatosis with Polyangiitis

Glomerulonephritis in the context of eosinophilic-rich granulomatosis with polyangiitis, eosinophilia, asthma and commonly anti-neutrophil cytoplasmic antibody.


Sickle cell nephropathy

Nephropathy secondary to sickle cell disease, characterized by the presence of sickled erythrocytes in the renal medullary vessels, renal ischemia and microinfarctions, renal papillary necrosis, and renal tubular abnormalities.


Nephrotic Syndrome - Malaria Associated

Nephrotic syndrome associated with malaria.


Nephrotic Syndrome with Lesion of Segmental Hyalinosis

A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction in the filtering capillaries and the deposition of plasma components between the endothelium and glomerular basement membrane. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


Incident Nephrotic Syndrome

New onset nephrotic syndrome.


sessile serrated polyposis cancer syndrome


squamous cell carcinoma of buccal mucosa

A squamous cell carcinoma that involves the buccal mucosa.


mucinous adenocarcinoma of the appendix

Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.


pancreatic delta cell neuroendocrine tumor

A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning).


colon Kaposi sarcoma

A Kaposi sarcoma arising from the colon.


pancreatic cystadenocarcinoma

A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes.


inflammatory bowel disease 6

An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13.


extrahepatic bile duct adenosquamous carcinoma

A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components.


polycystic liver disease 1

A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver.


nodular regenerative hyperplasia of the liver

Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins.


autoimmune hepatitis type 1

Autoimmune hepatitis characterized by the presence of antinuclear antibody (ANA) and antismooth-muscle antibody (ASMA).


membranous obstruction of inferior vena cava


anal canal adenocarcinoma

An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding.


carcinoma of esophagus, salivary gland type


rectum adenoma

An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.


hepatic angiomyolipoma

An angiomyolipoma arising from the liver.


gallbladder adenosquamous carcinoma

A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components.


autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome

Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.


rectal neoplasm

A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.


pyloric gland adenoma

A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed.


lipoatrophic diabetes

A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism.


hereditary neuroendocrine tumor of small intestine

An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome.


fibrolamellar hepatocellular carcinoma

A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers.


intrahepatic bile duct cancer

A cancer that involves the intrahepatic bile duct.


small intestinal neuroendocrine tumor G1

A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.


cecal neoplasm

A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.


classic neuroendocrine tumor of appendix

Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated.


pancreatic lymphoma, familial

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


inflammatory bowel disease 19

Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene.


carcinoma in situ of fundus of stomach

A in situ carcinoma that involves the fundus of stomach.


diabetes mellitus, noninsulin-dependent, 5

Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene.


intestinal cancer

A malignant neoplasm involving the intestine


congenital malabsorptive diarrhea 4

Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported.


duodenal disorder

Pathological conditions in the duodenum region of the small intestine (intestine, small).


carcinoma of stomach, salivary gland type


ampulla of vater adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla


cholestasis, progressive familial intrahepatic, 6


colorectal lipoma

A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum.


digestive system neuroendocrine tumor, grade 1/2

A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas.


bile duct cystadenoma

An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid.


ampulla of vater cancer

A primary or metastatic malignant neoplasm involving the ampulla of Vater.


duodenal adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the duodenum.


small intestine leiomyosarcoma

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


pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia

A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures.


descending colon cancer

A malignant neoplasm involving the descending colon.


pancreatic acinar cell cystadenocarcinoma

A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course.


fibrotic liver disease

A liver disease characterized by the presence of excessive fibrous connective tissue in the liver.


oropharynx cancer

A primary or metastatic malignant neoplasm that affects the oropharynx.


liver lymphoma

A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma.


liver leiomyosarcoma

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


gastric lymphoma

An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.


oral cavity carcinoma in situ

A in situ carcinoma that involves the oral cavity.


hepatic flexure cancer

A malignant neoplasm involving the hepatic flexure of colon.


maturity-onset diabetes of the young type 14

Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene.


inflammatory bowel disease 10

Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene.


common bile duct neoplasm

Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi.


colorectal medullary carcinoma

A rare, invasive colorectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.


gallbladder neuroendocrine neoplasm

A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).


laryngotracheoesophageal cleft type 2

Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections.


maturity-onset diabetes of the young type 9

Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene.


hereditary gastric cancer

Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome.


autoimmune disorder of gastrointestinal tract

A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system.


gastric papillary adenocarcinoma

A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores.


GCGR-related hyperglucagonemia

A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus.


congenital sodium diarrhea

Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.


accessory pancreas

Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen.


atresia of small intestine

Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases.


uvula cancer

A malignant neoplasm involving the palatine uvula.


colorectal juvenile polyp

A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.


inflammatory bowel disease 11

An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22.


hepatoportal sclerosis

Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding.


ascending cholangitis

Acute infection of the bile ducts caused by bacteria ascending from the small intestine.


carcinoma of duodenum

A carcinoma that involves the duodenum.


malignant tumor of floor of mouth

A cancer that involves the mouth floor.


biliary tract neoplasm

A neoplasm that involves the biliary tract.


rectal disorder

A disease that involves the rectum.


pyloric stenosis, infantile hypertrophic, 1


polyposis syndrome, hereditary mixed, 2

Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene.


colon sessile serrated adenoma/polyp

A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability.


anal margin carcinoma

A carcinoma that arises from epithelial cells of the perianal skin


Waldeyer's ring cancer

A malignant neoplasm involving the tonsillar ring.


ketamine-induced biliary dilatation

Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients.


Lynch syndrome 5

Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene.


adenosquamous bile duct carcinoma

An adenosquamous carcinoma that arises from the bile ducts.


intestine carcinoma in situ

A carcinoma in situ involving a intestine.


Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.


intrahepatic cholestasis of pregnancy

A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.


diarrhea 10, protein-losing enteropathy type


malignant neoplasm of thoracic esophagus

A cancer that involves the thoracic part of esophagus.


hyperplastic polyposis syndrome

Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.


colon small cell neuroendocrine carcinoma

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


superior mesenteric artery syndrome

Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment.


cirrhosis, familial

Cirrhosis in which no causative agent can be identified.


pericholangitis

Inflammation of the tissue surrounding the biliary ducts.


peptic ulcer perforation

Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity.


congenital enterocyte heparan sulfate deficiency

Congenital enterocyte heparan sulfate deficiency is characterized by massive enteric protein loss, secretory diarrhea, and intolerance to enteral feeds during the first few weeks of life.


gallbladder leiomyoma

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


anal polyp

A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma.


small intestine diverticulitis

A diverticulitis that involves the small intestine.


colonic disorder

Pathological processes in the colon region of the large intestine (intestine, large).


mucinous pancreas adenocarcinoma

A pancreatic adenocarcinoma that derives from epithelial cells originating in glandular tissue, which produce mucin.


periampullary adenocarcinoma

An adenocarcinoma that arises from the periampullary region.


carcinoma of liver and intrahepatic biliary tract

A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma.


calcifying nested epithelial stromal tumor of the liver

A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present.


Dieulafoy lesion

Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly.


esophageal basaloid carcinoma

A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO)