Benign Ovarian Clear Cell Tumor

A non-metastasizing neoplasm that arises from the ovary. It is characterized by a predominance of clear and hobnail benign epithelial cells.


Recurrent Ovarian Clear Cell Adenocarcinoma

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The reemergence of ovarian clear cell adenocarcinoma after a period of remission.


Metastatic Ovarian Mucinous Adenocarcinoma

Ovarian mucinous adenocarcinoma that has spread from its original site of growth to another anatomic site.


Ovarian Steroid Cell Tumor, Not Otherwise Specified

A steroid cell tumor that arises from the ovary and is defined by morphologic features that do not fit into the categories of Leydig cell tumor and stromal luteoma.  These features include solid proliferations of polygonal neoplastic cells with eosinophilic and granular cytoplasm.  Grossly, these tumors usually present as large and well circumscribed masses and are usually associated with androgenic manifestations.  Approximately one third of the cases have a malignant clinical course.


Stage IB Ovarian Cancer AJCC v8

Stage IB includes: T1b, N0, M0. T1b: Ovarian cancer with tumor limited to one or both ovaries (capsules intact); no tumor on ovarian surface; no malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Refractory Ovarian Carcinoma

Ovarian carcinoma that is resistant to treatment.


Stage I Ovarian Polyembryoma AJCC v6 and v7

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


Ovarian Granulosa-Stromal Cell Tumor

A group of sex cord-stromal tumors that arise from the ovary.  These tumors are characterized by the presence of granulosa cells, stromal cells, and/or theca cells.  This group includes granulosa cell tumor and tumors of the thecoma/fibroma group.


ovarian melanoma

A melanoma (disease) that involves the ovary.


Refractory Ovarian Endometrioid Adenocarcinoma

Ovarian endometrioid adenocarcinoma that is resistant to treatment.


Ovarian Neuroectodermal-Type Tumor

A rare ovarian malignant tumor with neuroectodermal differentiation. It is characterized either by a small round cell proliferation or by neuronal or glial differentiation.


Sertoli-Leydig cell tumor, intermediate differentiation, with heterologous elements

An ovarian Sertoli-Leydig cell tumor of intermediate differentiation, characterized by the presence of a heterologous component, usually consisting of cartilage, skeletal muscle, or rhabdomyosarcoma.


Childhood Benign Ovarian Neoplasm

A childhood neoplasm that arises from the ovary and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.


Localized Childhood Ovarian Germ Cell Tumor by Toronto Guidelines v2

Tumor confined to ovaries. (Childhood cancer staging for population registries according to the Toronto Childhood Cancer Stage Guidelines - Version 2. Cancer Council Queensland and Cancer Australia: Brisbane, Australia; 2021.)


malignant germ cell tumor of ovary

Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen.


Borderline Ovarian Serous Tumor-Micropapillary Variant/Non-Invasive Low Grade Ovarian Serous Carcinoma

A non-invasive serous neoplasm that arises from the ovary and shows micropapillary and/or cribriform architectural patterns.  It is composed of round epithelial cells with scant cytoplasm and moderate nuclear atypia.


Stage IV Ovarian Yolk Sac Tumor AJCC v6 and v7

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


Poorly Differentiated Ovarian Sertoli-Leydig Cell Tumor, Variant with Heterologous Elements

An ovarian poorly differentiated Sertoli-Leydig cell tumor. It is characterized by the presence of a heterologous component, usually consisting of cartilage, skeletal muscle, or rhabdomyosarcoma.


High Grade Ovarian Endometrioid Adenocarcinoma

Ovarian endometrioid adenocarcinoma exhibiting more than 50% solid non-glandular, non-squamous growth.


Well Differentiated Ovarian Sertoli-Leydig Cell Tumor

A Sertoli-Leydig tumor of the ovary characterized by the presence of Sertoli cells in tubules without evidence of significant nuclear atypia or mitotic activity. Primitive gonadal stromal cells are not present. It usually follows a benign clinical course.


ovarian endometrioid adenofibroma

A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma.


Stage IIIA2 Ovarian Cancer AJCC v8

Stage IIIA2 includes: T3a, N0/N1, M0. T3a: Ovarian cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


Stage I Ovarian Yolk Sac Tumor AJCC v6 and v7


Ovarian Retiform Sertoli-Leydig Cell Tumor, Variant with Heterologous Elements

A retiform Sertoli-Leydig cell tumor that arises from the ovary. It is characterized by the presence of an epithelial and/or mesenchymal heterologous component.


undifferentiated sarcoma of ovary

An aggressive high grade sarcoma that arises from the ovary.  It is characterized by the presence of marked pleomorphism and nuclear atypia in the neoplastic mesenchymal cells.  The prognosis is poor.


Stage IIIA1 Ovarian Cancer AJCC v8

Stage IIIA1 includes: T1/2, N1, M0. T1: Ovarian cancer with tumor limited to ovaries (one or both). T2: Ovarian cancer with tumor involving one or both ovaries with pelvic extension below pelvic brim. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


Stage IIC Ovarian Germ Cell Tumor AJCC v6 and v7

Stage IIC includes: T2c, N0, M0. T2c: Pelvic extension and/or implants (T2a or T2b) with malignant cells in ascites or peritoneal washing. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Ovarian Leydig Cell Tumor, Non-Hilar Type

A Leydig cell tumor that arises from the ovarian stroma.


Benign thecoma

A thecoma of the ovary that does not metastasize to other anatomic sites.


Borderline Ovarian Mucinous Tumor, Intestinal Type

A neoplasm of low malignant potential arising from the ovary.  It is characterized by the proliferation of neoplastic mucinous epithelial cells that resemble intestinal epithelial cells.  There is no evidence of stromal invasion.


ovarian sarcoma

A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor.


FIGO Stage III Ovarian Cancer

Ovarian cancer involving 1 or both ovaries with cytologically or histologically confirmed spread to the peritoneum outside the pelvis and/or metastasis to the retroperitoneal lymph nodes. (FIGO, 2014)


Ovarian Sertoli-Leydig Cell Tumor Molecular Subtypes

A term that refers to the classification of ovarian Sertoli-Leydig cell tumors according to their molecular characteristics.


FIGO Stage II Ovarian Cancer

Ovarian cancer involving one or both ovaries with pelvic extension (below the pelvic brim) or primary peritoneal cancer. (FIGO, 2014)


Stage I Ovarian Embryonal Carcinoma AJCC v6 and v7

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


Advanced Ovarian Carcinosarcoma

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


Recurrent Extrarenal Rhabdoid Tumor of the Ovary

The reemergence of extrarenal rhabdoid tumor of the ovary after a period of remission.


Extrarenal Rhabdoid Tumor of the Ovary

An extrarenal rhabdoid tumor affecting the ovary.


Stage III Ovarian Embryonal Carcinoma AJCC v6 and v7

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


adenocarcinofibroma

A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells in a fibrotic stroma. Histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma.


Stage III Borderline Ovarian Surface Epithelial-Stromal Tumor

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


Adult Type Ovarian Granulosa Cell Tumor

A low-grade malignant sex cord-stromal tumor that occurs in the ovary and affects middle aged to post-menopausal women. It is composed of granulosa cells in an often fibrothecomatous stroma. The neoplastic cells may form various patterns including the microfollicular, which is characterized by the presence of Call-Exner bodies, macrofollicular, insular, trabecular, and diffuse pattern. Signs and symptoms include abdominal mass, hemoperitoneum, and ascites. Estrogenic and rarely androgenic manifestations may be present. The vast majority of cases present as stage I tumors; however, all tumors have a potential for aggressive clinical course.


Stage II Ovarian Germ Cell Tumor AJCC v6 and v7

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


Recurrent Ovarian Mucinous Adenocarcinoma

The reemergence of ovarian mucinous adenocarcinoma after a period of remission.


Acquired Ovarian Failure

Ovarian failure, the cause of which is not present at birth.


serous adenocarcinofibroma of ovary

A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells of serous type, forming glandular, papillary, and solid patterns.


Stage IV Ovarian Carcinoma

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


Ovarian Non-Neoplastic Disorder

A non-neoplastic disorder that affects the ovary.  Representative examples include endometriosis and polycystic ovarian disease.


Borderline Ovarian Mucinous Tumor, Endocervical-Like

A neoplasm of low malignant potential arising from the ovary.  It is characterized by the proliferation of neoplastic epithelial cells that resemble endocervical epithelial cells.  There is no evidence of stromal invasion.


Gonadotropin-Resistant Ovary Syndrome

Ovarian dysfunction due to a defect at the receptor or post receptor level, or due to the presence of antibodies against gonadotropin receptors, resulting in deficient gonadotropin signaling that causes elevated concentrations of follicle stimulating hormone and/or luteinizing hormone. A distinguishing feature is the presence of normal numbers of ova.


Borderline Ovarian Seromucinous Tumor

A low grade ovarian epithelial neoplasm characterized by the presence of atypical neoplastic serous and mucinous cells.


BRCA-Associated Ovarian Carcinoma

Ovarian carcinoma caused by deleterious germline mutation in a gene of the BRCA family.


Solid Pseudopapillary Neoplasm of the Ovary

An exceedingly rare solid pseudopapillary neoplasm that occurs in ectopic pancreatic tissue in the ovary.


Thecoma, luteinized

A variant of ovarian thecoma characterized by the presence of lutein cells. It is associated with a lower frequency of estrogenic manifestations compared to typical thecomas. In a minority of cases androgenic manifestations are present.


Low Grade Ovarian Endometrioid Adenocarcinoma

Ovarian endometrioid adenocarcinoma exhibiting 50% or less solid non-glandular, non-squamous growth.


Ovarian Tumor of the Thecoma/Fibroma Group

A group of neoplasms that arise from the ovary and represent a spectrum of tumors ranging from neoplasms that are composed entirely of fibroblasts to those that are composed predominantly of theca cells.


Ovarian Luteinized Thecoma Associated with Sclerosing Peritonitis

A rare usually bilateral luteinized thecoma that arises from the ovary and is associated with sclerosing peritonitis. It occurs mostly in premenopausal women. The ovarian tumor is benign but patients may develop intestinal obstruction due to the sclerosing peritonitis.


Ovarian germ cell choriocarcinoma stage III

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


Stage IIA Ovarian Cancer AJCC v8

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


Unresectable Ovarian Undifferentiated Carcinoma

Ovarian undifferentiated carcinoma that is not amenable to surgical resection.


FIGO Stage IIIA1 Ovarian Cancer

Ovarian cancer with positive retroperitoneal lymph nodes only. (FIGO, 2014)


Platinum-Resistant Ovarian Carcinoma

Ovarian carcinoma that progresses between one and six months of completing the last platinum therapy.


FIGO Stage IIIA Ovarian Cancer

Ovarian cancer with positive retroperitoneal lymph nodes and/or microscopic metastasis beyond the pelvis. (FIGO, 2014)


Stage III Ovarian Yolk Sac Tumor AJCC v6 and v7


FIGO Stage IIIA1(ii) Ovarian Cancer

Ovarian cancer with positive retroperitoneal lymph nodes only. Metastasis greater than 10 mm. (FIGO, 2014)


Refractory Ovarian Seromucinous Carcinoma

Ovarian seromucinous carcinoma that is resistant to treatment.


ovarian sertoli-stromal cell tumor

A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells.


Stage II Ovarian Cancer AJCC v8

Stage II includes: T2, N0, M0. T2: Ovarian cancer with tumor involving one or both ovaries with pelvic extension below pelvic brim. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Benign Ovarian Luteinized Thecoma

A non-metastasizing thecoma of the ovary that is characterized by the presence of lutein cells.


ovarian malignant mesothelioma

A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement.


Childhood Ovarian Sclerosing Stromal Tumor

A sclerosing stromal tumor that arises from the ovary during childhood.


Ovarian Seromucinous Adenofibroma

A non-metastasizing mixed epithelial neoplasm that arises from the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous and prominent fibrous stroma..


benign endometrioid tumor of ovary

A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of glands or cysts lined by benign endometrial-type cells. It includes endometrioid adenofibroma, endometrioid cystadenofibroma, and endometrioid cystadenoma.


Stage IIIC Ovarian Germ Cell Tumor AJCC v6 and v7

Stage IIIC includes: (T3c, N0, M0); (Any T, N1, M0). T3c: Peritoneal metastasis beyond pelvis more than 2cm in greatest dimension and/or regional lymph node metastasis. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Proliferating Brenner Tumor

A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of neoplastic atypical urothelial-type cells in a fibrotic stroma without evidence of invasion.


Typical Ovarian Thecoma

An ovarian thecoma characterized by the presence of cells with uniform nuclei and abundant vacuolated cytoplasm.  Mitoses are not present or, when present, are rare.


Borderline Ovarian Mucinous Tumor/Atypical Proliferative Ovarian Mucinous Tumor with Intraepithelial Carcinoma

A low grade ovarian epithelial neoplasm characterized by the presence of neoplastic mucinous epithelial cells, atypia, and the presence of intraepithelial carcinoma.


Unresectable Ovarian Mucinous Adenocarcinoma

Ovarian mucinous adenocarcinoma that is not amenable to surgical resection.


choriocarcinoma of ovary

A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma.


Ovarian Dedifferentiated Carcinoma

An aggressive carcinoma arising from the ovary.  Most patients present with advanced disease.  Microscopically, it is characterized by the presence of an undifferentiated carcinomatous component and a second component of either endometrioid carcinoma or, rarely, serous carcinoma.


Borderline Ovarian Endometrioid Cystadenofibroma

An epithelial neoplasm that arises from the ovary characterized by the presence of cystic spaces which are lined by atypical glandular epithelial cells resembling endometrial cells. The surrounding ovarian stroma is fibrotic. There is no evidence of stromal invasion.


Ovarian Sex Cord Tumor with Annular Tubules

An ovarian sex cord-stromal tumor characterized by the presence of Sertoli cells forming annular tubules. It may be associated with Peutz-Jeghers syndrome. Cases associated with Peutz-Jeghers syndrome have followed a benign clinical course. Cases which are not associated with Peutz-Jeghers syndrome have been reported having a clinically malignant course.


Stage III Ovarian Germ Cell Tumor AJCC v6 and v7

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


Stage III Ovarian Cancer AJCC v8

Stage III includes: IIIA1: T1/2, N1, M0; IIIA2: T3a, N0/N1, M0; IIIB: T3b, N0/N1, M0; IIIC: T3c, N0/N1, M0. T1: Ovarian cancer with tumor limited to ovaries (one or both). T2: Ovarian cancer with tumor involving one or both ovaries with pelvic extension below pelvic brim. T3a: Ovarian cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. T3b: Ovarian cancer with macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension with or without metastasis to the retroperitoneal lymph nodes. T3c: Ovarian cancer with macroscopic peritoneal metastasis beyond the pelvis more than 2 cm in greatest dimension with or without metastasis to the retroperitoneal lymph nodes (includes extension of tumor to capsule of liver and spleen without parenchymal involvement of either organ). N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


Stage II Ovarian Embryonal Carcinoma AJCC v6 and v7

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


Ovarian Retiform Sertoli-Leydig Cell Tumor

A Sertoli-Leydig cell tumor of the ovary in which anastomosing, slit-like spaces resembling rete testis constitute at least 90% of the tumor elements. It may present with estrogenic and less often androgenic manifestations. It usually follows a benign clinical course.


Borderline Ovarian Mucinous Tumor/Atypical Proliferative Ovarian Mucinous Tumor

A non-invasive neoplasm that arises from the ovary and is composed of gastrointestinal-type, mucin-containing epithelial cells.  It shows greater cellular proliferation and cytologic atypia as compared to benign ovarian mucinous tumors.


Unresectable Platinum-Resistant Ovarian Carcinoma

Platinum-resistant ovarian carcinoma that is not amenable to surgical resection.


Ovarian germ cell choriocarcinoma stage IV

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


Borderline Ovarian Clear Cell Tumor/Atypical Proliferative Ovarian Clear Cell Tumor

A non-invasive clear cell adenofibromatous neoplasm that arises from the ovary. It is characterized by the presence of atypia in the glandular epithelium.


Stage IIIA Choroidal and Ciliary Body Melanoma AJCC v8

Stage IIIA includes: (T2c-d, N0, M0); (T3b-c, N0, M0); (T4a, N0, M0). T2c: Tumor size category 2 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in largest diameter. T2d: Tumor size category 2 with ciliary body involvement and extraocular extension less than or equal to 5 mm in largest diameter. T3b: Tumor size category 3 with ciliary body involvement. T3c: Tumor size category 3 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in largest diameter. T4a: Tumor size category 4 without ciliary body involvement and extraocular extension. N0: No regional lymph node metastasis. M0: No distant metastasis.  (AJCC 8th ed.)


mosaic trisomy 16

Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.


Grade 2 Urinary Frequency, CTCAE

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Limiting instrumental ADL; medical management indicated


Postneoadjuvant Therapy Stage IIIB Esophageal Squamous Cell Carcinoma AJCC v8

Stage IIIB includes: (T3, N1, M0); (T0-3, N2, M0); (T4a, N0, M0). T0: No evidence of primary tumor. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Vitamin C deficiency anemia

Anemia associated with vitamin C deficiency.


Gastric Cardia Squamous Cell Carcinoma

A squamous cell carcinoma that arises from the gastric cardia.


Grade 2 Other Intra-Operative Injury, CTCAE


Grade 1 Other Intra-Operative Injury, CTCAE


Grade 3 Other Intra-Operative Injury, CTCAE


Grade 4 Other Intra-Operative Injury, CTCAE


Partington syndrome

A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.


hydroxynaphthoquinone

Any naphthoquinone in which the naphthaoquinone moiety is substituted by at least one hydroxy group.


Any member of the class of 1,4-naphthoquinones in which the naphthoquinone moiety is substituted by at least one hydroxy group.


glucocorticoid deficiency 4

Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene.


Grade 3 Hypotension, CTCAE

Medical intervention indicated; hospitalization indicated


Stage IV Esophageal Squamous Cell Carcinoma AJCC v7

Stage IV includes: Any T, Any N, M1, Any G, Tumor location: Any.  M1: Distant metastasis.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


Esophageal Well Differentiated Squamous Cell Carcinoma

An esophageal squamous cell carcinoma characterized by the presence of prominent keratinization and low mitotic activity.


Clinical Stage IV Esophageal Squamous Cell Carcinoma AJCC v8

Stage IV includes: IVA: (T4, N0-2, M0); (Any T, N3, M0); IVB: (Any T, Any N, M1). T4: Tumor invades adjacent structures. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


Postneoadjuvant Therapy Stage I Esophageal Squamous Cell Carcinoma AJCC v8

Stage I includes: T0-2, N0, M0. T0: No evidence of primary tumor. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Cervical Esophagus Squamous Cell Carcinoma

A squamous cell carcinoma that arises from the cervical esophagus.


Clinical Stage II Esophageal Squamous Cell Carcinoma AJCC v8

Stage II includes: (T2, N0-1, M0); (T3, N0, M0). T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage II Esophageal Squamous Cell Carcinoma AJCC v7

Stage II includes: IIA (T2-3, N0, M0, G1, GX, Tumor location: Upper, middle); (T2-3, N0, M0, G2-3, Tumor location: Lower, X); IIB (T2-3, N0, M0, G2-3, Tumor location: Upper, middle); (T1-2, N1, M0, Any G, Tumor location: Any).  T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  N0: No regional lymph node metastasis.  N1: Metastasis in 1-2 regional lymph nodes.  M0: No distant metastasis.  G1: Well differentiated.  GX: Grade cannot be assessed-stage grouping as G1.  G2: Moderately differentiated.  G3: Poorly differentiated.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


Pathologic Stage 0 Esophageal Squamous Cell Carcinoma AJCC v8

Stage 0 includes: Tis, N0, M0, GN/A, Tumor location: Any. Tis: High-grade dysplasia, defined as malignant cells confined to the epithelium by the basement membrane. N0: No regional lymph node metastasis. M0: No distant metastasis. GN/A: Grade non-applicable. (AJCC 8th ed.)


Stage IB Esophageal Squamous Cell Carcinoma AJCC v7

Stage IB includes: (T1, N0, M0, G2-3, Tumor location: Any); (T2-3, N0, M0, G1, GX, Tumor location: Lower, X). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis.  M0: No distant metastasis.  G1: Well differentiated.  GX: Grade cannot be assessed-stage grouping as G1.  G2: Moderately differentiated.  G3: Poorly differentiated.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


Pathologic Stage IB Esophageal Squamous Cell Carcinoma AJCC v8

Stage IB includes: (T1a, N0, M0, G2-3, Tumor location: Any); (T1b, N0, M0, G1-3, Tumor location: Any); (T1b, N0, M0, GX, Tumor location: Any); (T2, N0, M0, G1, Tumor location: Any). T1a: Tumor invades the lamina propria or muscularis mucosae. T1b: Tumor invades the submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


Stage IIIC Esophageal Squamous Cell Carcinoma AJCC v7

Stage IIIC includes: (T4a, N1-2, M0, Any G, Tumor location: Any); (T4b, Any N, M0, Any G, Tumor location: Any); (Any T, N3, M0, Any G, Tumor location: Any).  T4a: Resectable tumor invading pleura, pericardium, or diaphragm. T4b: Unresectable tumor invading other adjacent structures, such as aorta, vertebral body, trachea, etc. N1: Metastasis in 1-2 regional lymph nodes.  N2: Metastasis in 3-6 regional lymph nodes.  N3: Metastasis in seven or more regional lymph nodes.  M0: No distant metastasis.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


Postneoadjuvant Therapy Stage III Esophageal Squamous Cell Carcinoma AJCC v8

Stage III includes: IIIA: (T0-2, N1, M0); IIIB: (T3, N1, M0); (T0-3, N2, M0); (T4a, N0, M0). T0: No evidence of primary tumor. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage I Esophageal Squamous Cell Carcinoma AJCC v7

Stage I includes: IA (T1, N0, M0, G1, GX, Tumor location: Any); IB (T1, N0, M0, G2-3, Tumor location: Any); (T2-3, N0, M0, G1, GX, Tumor location: Lower, X). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis.  M0: No distant metastasis.  G1: Well differentiated.  GX: Grade cannot be assessed-stage grouping as G1.  G2: Moderately differentiated.  G3: Poorly differentiated.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


Esophageal Squamous Cell Carcinoma by AJCC v7 Stage

A term that refers to the staging of esophageal squamous cell carcinoma according to the American Joint Committee on Cancer, 7th edition.


Pathologic Stage IA Esophageal Squamous Cell Carcinoma AJCC v8

Stage IA includes: (T1a, N0, M0, G1, Tumor location: Any); (T1a, N0, M0, GX, Tumor location: Any). T1a: Tumor invades the lamina propria or muscularis mucosae. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. (AJCC 8th ed.)


Clinical Stage IVB Esophageal Squamous Cell Carcinoma AJCC v8

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


Stage IIA Esophageal Squamous Cell Carcinoma AJCC v7

Stage IIA includes: (T2-3, N0, M0, G1, GX, Tumor location: Upper, middle); (T2-3, N0, M0, G2-3, Tumor location: Lower, X). T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis.  M0: No distant metastasis.  G1: Well differentiated.  GX: Grade cannot be assessed-stage grouping as G1.  G2: Moderately differentiated.  G3: Poorly differentiated.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


Refractory Esophageal Squamous Cell Carcinoma

Esophageal squamous cell carcinoma that is resistant to treatment.


Pathologic Stage IV Esophageal Squamous Cell Carcinoma AJCC v8

Stage IV includes: IVA: (T4a, N2, M0, Any G, Tumor location: Any); (T4b, N0-2, M0, Any G, Tumor location: Any); (Any T, N3, M0, Any G, Tumor location: Any); IVB: (Any T, Any N, M1, Any G, Tumor location: Any). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


Metastatic Esophageal Squamous Cell Carcinoma

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


Pathologic Stage IIA Esophageal Squamous Cell Carcinoma AJCC v8

Stage IIA includes: (T2, N0, M0, G2-3, Tumor location: Any); (T2, N0, M0, GX, Tumor location: Any); (T3, N0, M0, Any G, Tumor location: Lower); (T3, N0, M0, G1, Tumor location: Upper/middle). T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Well-differentiated. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


Alcohol-Related Esophageal Squamous Cell Carcinoma

An esophageal carcinoma that results from alcohol consumption.  The alcohol-related esophageal carcinomas are always of squamous cell type.  There is no association between alcohol consumption and esophageal adenocarcinomas.


Esophageal Squamous Cell Carcinoma by AJCC v8 Postneoadjuvant Therapy Stage

A term that refers to the postneoadjuvant therapy staging of esophageal squamous cell carcinoma according to the American Joint Committee on Cancer, 8th edition.


Pathologic Stage IVB Esophageal Squamous Cell Carcinoma AJCC v8

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


Unresectable Esophageal Squamous Cell Carcinoma

Esophageal squamous cell carcinoma that is not amenable to surgical resection.


Stage IIIB Esophageal Squamous Cell Carcinoma AJCC v7

Stage IIIB includes: T3, N2, M0, Any G, Tumor location: Any. T3: Tumor invades adventitia. N2: Metastasis in 3-6 regional lymph nodes.  M0: No distant metastasis.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


Clinical Stage III Esophageal Squamous Cell Carcinoma AJCC v8

Stage III includes: (T3, N1, M0); (T1-3, N2, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Postneoadjuvant Therapy Stage IVB Esophageal Squamous Cell Carcinoma AJCC v8


Esophageal Poorly Differentiated Squamous Cell Carcinoma

An esophageal squamous cell carcinoma characterized by the presence of basal-like malignant squamous cells that form nests, often associated with central necrosis.


Advanced Esophageal Squamous Cell Carcinoma

Esophageal squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment


Clinical Stage 0 Esophageal Squamous Cell Carcinoma AJCC v8

Stage 0 includes: Tis, N0, M0. Tis: High-grade dysplasia, defined as malignant cells confined to the epithelium by the basement membrane. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage IIB Esophageal Squamous Cell Carcinoma AJCC v7

Stage IIB includes: (T2-3, N0, M0, G2-3, Tumor location: Upper, middle); (T1-2, N1, M0, Any G, Tumor location: Any).  T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  N0: No regional lymph node metastasis.  N1: Metastasis in 1-2 regional lymph nodes.  M0: No distant metastasis.  G2: Moderately differentiated.  G3: Poorly differentiated.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


Thoracic Esophagus Squamous Cell Carcinoma

A squamous cell carcinoma that arises from the thoracic esophagus.


Esophageal Squamous Cell Carcinoma by AJCC v8 Pathologic Stage

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


Human Papillomavirus-Related Esophageal Squamous Cell Carcinoma

An esophageal squamous cell carcinoma that arises from squamous epithelial cells infected with human papillomavirus.


Pathologic Stage IVA Esophageal Squamous Cell Carcinoma AJCC v8

Stage IVA includes: (T4a, N2, M0, Any G, Tumor location: Any); (T4b, N0-2, M0, Any G, Tumor location: Any); (Any T, N3, M0, Any G, Tumor location: Any). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Clinical Stage I Esophageal Squamous Cell Carcinoma AJCC v8

Stage I includes: T1, N0-1, M0. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Pathologic Stage IIIA Esophageal Squamous Cell Carcinoma AJCC v8

Stage IIIA includes: (T1, N2, M0, Any G, Tumor location: Any); (T2, N1, M0, Any G, Tumor location: Any). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Postneoadjuvant Therapy Stage II Esophageal Squamous Cell Carcinoma AJCC v8

Stage II includes: T3, N0, M0. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Distal Esophagus Squamous Cell Carcinoma

A squamous cell carcinoma that arises from the distal esophagus.


Locally Advanced Esophageal Squamous Cell Carcinoma

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


Esophageal Carcinoma Cuniculatum

An extremely rare, well-differentiated squamous cell carcinoma that arises from the esophagus. It is characterized by the presence of hyperkeratosis, acanthosis, dyskeratosis, keratin-filled cysts, koilocyte-like cells, intraepithelial neutrophils, and focal cytologic atypia.


Stage IA Esophageal Squamous Cell Carcinoma AJCC v7

Stage IA includes: T1, N0, M0, G1, GX, Tumor location: Any. T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  G1: Well differentiated.  GX: Grade cannot be assessed-stage grouping as G1.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


Stage IIIA Esophageal Squamous Cell Carcinoma AJCC v7

Stage IIIA includes: (T1-2, N2, M0, Any G, Tumor location: Any); (T3, N1, M0, Any G, Tumor location: Any); (T4a, N0, M0, Any G, Tumor location: Any). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T4a: Resectable tumor invading pleura, pericardium, or diaphragm. N0: No regional lymph node metastasis.  N1: Metastasis in 1-2 regional lymph nodes.  N2: Metastasis in 3-6 regional lymph nodes.  M0: No distant metastasis.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


Pathologic Stage IIIB Esophageal Squamous Cell Carcinoma AJCC v8

Stage IIIB includes: (T2, N2, M0, Any G, Tumor location: Any); (T3, N1-2, M0, Any G, Tumor location: Any); (T4a, N0-1, M0, Any G, Tumor location: Any). T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage 0 Esophageal Squamous Cell Carcinoma AJCC v7

Stage 0 includes: Tis (HGD), N0, M0, G1, GX, Tumor location: Any.  Tis: High-grade dysplasia.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  G1: Well differentiated.  GX: Grade cannot be assessed-stage grouping as G1.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


Postneoadjuvant Therapy Stage IVA Esophageal Squamous Cell Carcinoma AJCC v8

Stage IVA includes: (T4a, N1-2, M0); (T4a, NX, M0); (T4b, N0-2, M0); (Any T, N3, M0). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. NX: Regional lymph nodes cannot be assessed. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Clinical Stage IVA Esophageal Squamous Cell Carcinoma AJCC v8

Stage IVA includes: (T4, N0-2, M0); (Any T, N3, M0). T4: Tumor invades adjacent structures. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Pathologic Stage IIB Esophageal Squamous Cell Carcinoma AJCC v8

Stage IIB includes: (T3, N0, M0, G2-3, Tumor location: Upper/middle); (T3, N0, M0, GX, Tumor location: Any); (T3, N0, M0, Any G, Tumor location: Unknown); (T1, N1, M0, Any G, Tumor location: Any). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. GX: Grade cannot be assessed. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated (AJCC 8th ed.)


Postneoadjuvant Therapy Stage IIIA Esophageal Squamous Cell Carcinoma AJCC v8

Stage IIIA includes: T0-2, N1, M0. T0: No evidence of primary tumor. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage III Esophageal Squamous Cell Carcinoma AJCC v7

Stage III includes: IIIA (T1-2, N2, M0, Any G, Tumor location: Any); (T3, N1, M0, Any G, Tumor location: Any); (T4a, N0, M0, Any G, Tumor location: Any); IIIB (T3, N2, M0, Any G, Tumor location: Any); IIIC (T4a, N1-2, M0, Any G, Tumor location: Any); (T4b, Any N, M0, Any G, Tumor location: Any); (Any T, N3, M0, Any G, Tumor location: Any).  T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T4a: Resectable tumor invading pleura, pericardium, or diaphragm. T4b: Unresectable tumor invading other adjacent structures, such as aorta, vertebral body, trachea, etc. N0: No regional lymph node metastasis.  N1: Metastasis in 1-2 regional lymph nodes.  N2: Metastasis in 3-6 regional lymph nodes.  N3: Metastasis in seven or more regional lymph nodes.  M0: No distant metastasis.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


Pathologic Stage III Esophageal Squamous Cell Carcinoma AJCC v8

Stage III includes: IIIA: (T1, N2, M0, Any G, Tumor location: Any); (T2, N1, M0, Any G, Tumor location: Any); IIIB: (T2, N2, M0, Any G, Tumor location: Any); (T3, N1-2, M0, Any G, Tumor location: Any); (T4a, N0-1, M0, Any G, Tumor location: Any). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Esophageal Squamous Cell Carcinoma by AJCC v8 Stage

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


Pathologic Stage II Esophageal Squamous Cell Carcinoma AJCC v8

Stage II includes: IIA: (T2, N0, M0, G2-3, Tumor location: Any); (T2, N0, M0, GX, Tumor location: Any); (T3, N0, M0, Any G, Tumor location: Lower); (T3, N0, M0, G1, Tumor location: Upper/middle); IIB: (T3, N0, M0, G2-3, Tumor location: Upper/middle); (T3, N0, M0, GX, Tumor location: Any); (T3, N0, M0, Any G, Tumor location: Unknown); (T1, N1, M0, Any G, Tumor location: Any). T2: Tumor invades the muscularis propria. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Well-differentiated. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


Esophageal Squamous Cell Carcinoma by AJCC v8 Clinical Stage

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


Postneoadjuvant Therapy Stage IV Esophageal Squamous Cell Carcinoma AJCC v8

Stage IV includes: IVA: (T4a, N1-2, M0); (T4a, NX, M0); (T4b, N0-2, M0); (Any T, N3, M0); IVB: (Any T, Any N, M1). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. NX: Regional lymph nodes cannot be assessed. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


Esophageal Spindle Cell Carcinoma

An esophageal squamous cell carcinoma characterized by the presence of a spindle-cell carcinomatous component.  Crossly it has a polypoid appearance and usually arises from the middle or lower third of the esophagus.


Esophageal Moderately Differentiated Squamous Cell Carcinoma

An esophageal squamous cell carcinoma characterized by the presence of variable morphologic characteristics that include areas of prominent and poor keratinization.


Pathologic Stage I Esophageal Squamous Cell Carcinoma AJCC v8

Stage I includes: IA: (T1a, N0, M0, G1, Tumor location: Any); (T1a, N0, M0, GX, Tumor location: Any); IB: (T1a, N0, M0, G2-3, Tumor location: Any); (T1b, N0, M0, G1-3, Tumor location: Any); (T1b, N0, M0, GX, Tumor location: Any); (T2, N0, M0, G1, Tumor location: Any). T1a: Tumor invades the lamina propria or muscularis mucosae. T1b: Tumor invades the submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


idiopathic hypersomnia with long sleep time

Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia.


Senior-Loken syndrome 5

Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene.


Grade 3 Lens Infection with Unknown Absolute Neutrophil Count, CTCAE


Lens Infection with Unknown Absolute Neutrophil Count, CTCAE


Grade 4 Lens Infection with Unknown Absolute Neutrophil Count, CTCAE


Grade 2 Lens Infection with Unknown Absolute Neutrophil Count, CTCAE


Grade 5 Lens Infection with Unknown Absolute Neutrophil Count, CTCAE


valerate ester

A carboxylic ester obtained by formal condensation of the carboxy group of valeric (pentanoic) acid with the hydroxy group of any alcohol or phenol.


Grade 2 Pharyngeal Anastomotic Leak, CTCAE

Symptomatic; medical intervention indicated


Stage IA Gastric and Omental Gastrointestinal Stromal Tumor AJCC v8

Stage IA includes: T1 or T2, N0, M0, Low Mitotic Rate. T1: Tumor measuring 2 cm or less. T2: Tumor measuring more than 2 cm but not more than 5 cm. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. Low Mitotic Rate: Five or fewer mitoses per 5 square millimeters, or per 50 HPF. (AJCC 8th ed.)


fallopian tube teratoma

A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally.


fallopian tube germ cell tumor

A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas.


fallopian tube benign neoplasm

A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma.


fallopian tube leiomyoma

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


cancer of isthmus of fallopian tube

A cancer that involves the UBERON:0016632.


fallopian tube leiomyosarcoma

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


fallopian tube adenosarcoma

An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component.


fallopian tube endometrioid tumor

A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.


Hurting Pain

A sensation of discomfort or distress that is very unpleasant.


demodicidosis

Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings.


demodicidosis of sebaceous gland

A demodicidosis that involves the sebaceous gland.


Mold or Dust Allergy

An allergic reaction triggered by exposure to airborne allergens expressed by dust mites or molds.


hypersensitivity reaction disease

An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system.


Cat allergy (disorder)

An allergic reaction triggered by exposure to allergens expressed by cats, includes allergenic factors found in feline saliva and dander.


Processed Food Allergy

An allergic reaction triggered by exposure to allergens found in processed foods.


Shellfish allergy

An allergic reaction triggered by exposure to allergens found in foods containing molluscs, crustaceans or echinoderms.


Dog Allergy

An allergic reaction triggered by exposure to allergens expressed by dogs, includes allergenic factors found in canine saliva and dander.


Venomous Ant Bite Allergy

An allergic reaction triggered by exposure to ant venom, usually as a result of being bitten by a fire ant (Solenopsis spp.).


Allergy to fruit

An allergic reaction triggered by exposure to foodborne allergens found in fruit.


type III hypersensitivity disease

Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa.


Allergy to bee venom

An allergic reaction triggered by being exposed to bee venom following a bee sting.


Contact hypersensitivity

Contact hypersensitivity is an inflammatory response induced by antigen-reactive T cells that are exposed to antigen on the skin surface (epidermis).  Poison ivy is a frequent cause of such reactivity, due to the urushiol from the plant, as are a variety of antigens derived from industrial exposure (e.g. rubber, chromate, nickel).  These antigens induce the appearance of Th1-like T cells, which presumably produce IFN to activate macrophages.


Wasp Sting Allergy

An allergic reaction triggered by being exposed to wasp venom following a wasp sting.


Dairy or Lactose Intolerance Allergy

An allergic reaction triggered by exposure to allergens found in foods containing lactose or other dairy components.


Hypersensitivity reaction mediated by antibody

A hypersensitivity reaction mediated by antibodies formed against cell surface antigens.


Coal Dust Exposure

Environmental or occupational exposure to dust derived during the processing of coal.


Blast Phase Myeloproliferative Neoplasm

Transformation of a myeloproliferative neoplasm into acute myeloid leukemia, typically via accelerated phase myeloproliferative neoplasm. Myeloblasts account for 20% or more of the peripheral blood white cells or the nucleated cells in the bone marrow.


Blast Phase Primary Myelofibrosis

Transformation of primary myelofibrosis into acute myeloid leukemia, typically via accelerated phase primary myelofibrosis. Myeloblasts account for 20% or more of the peripheral blood white cells or the nucleated cells in the bone marrow.


Kasabach-Merritt syndrome

Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.


gonococcal synovitis

An synovitis (disease) caused by infection with Neisseria gonorrhoeae.


sclerema neonatorum

A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life.


Stage IB Uterine Corpus Endometrial Stromal Sarcoma AJCC v8

Stage IB includes: T1b, N0, M0. T1b: Uterine corpus endometrial stroma sarcoma with tumor limited to the uterus, measuring more than 5 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


butopamine

A 4-(1-hydroxy-2-{[4-(4-hydroxyphenyl)butan-2-yl]amino}ethyl)phenol in which both stereocentres have R configuration. It is the most active of the four diastereoisomers that make up the animal feed additive ractopamine.


Fracture of Long Bone Related to Birth

An injury sustained during the birthing process in which the continuity is broken in any bone that is longer in length than width.


granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3


beta-mannosidosis

Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.


anemia, nonspherocytic hemolytic, due to G6PD deficiency

An X-linked genetic condition caused by alterations in the gene G6PD that result in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous G6PD variants associated with CNSHA have CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.


anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane


anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism


heritable pulmonary arterial hypertension

Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.


Grade 1 Oligospermia, CTCAE

Sperm concentration > 0 to < 15 million/ml


disease

A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism.


sporadic adult-onset ataxia of unknown etiology

Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.


hypogonadotropic hypogonadism 13 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene.


craniosynostosis arthrogryposis cleft palate


baclofen withdrawal syndrome

Withdrawal syndrome involving the abrupt discontinuation of baclofen therapy (intrathecal or oral). Baclofen withdrawal syndrome can result in high fever, altered mental status (including agitation, insomnia, confusion, delusions, hallucinations, seizures, visual changes, or psychosis), and potentially profound muscular rigidity that sometimes progresses to fatal rhabdomyolysis.


hereditary thrombocytopenia and hematologic cancer predisposition syndrome

The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes.


congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.


acute pharyngitis

An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache.


benign melanocytic skin nevus

A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus.


acquired ichthyosis

Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications.


abducens nerve palsy

Paralysis of the abducens nerve.


classic congenital adrenal hyperplasia

A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement.


brittle cornea syndrome 2

Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene.


Guillain-Barre syndrome, familial

A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy.


neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy


associative visual agnosia

An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them.


polydactyly of an index finger, unilateral


congenital generalized lipodystrophy type 1

Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.


pedophilia

A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children.


inflammatory disease

A disease involving a pathogenic inflammatory response in the anatomical structure.


intellectual disability, autosomal recessive 29


necrotizing sialometaplasia

A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma.


dendritic cell sarcoma

A sarcoma that involves the dendritic cell.


simple cryoglobulinemia

Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C.


cyanide-induced parkinsonism

Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum.


autosomal recessive non-syndromic intellectual disability

Autosomal recessive form of non-syndromic intellectual disability.


trisomy 21

A chromosomal disorder consisting of the presence of an extra chromosome 21.


mirror movements 1 and/or agenesis of the corpus callosum

A familial congenital mirror movement disorder where individuals with heterozygous variants in DCC have congenital mirror movements and/or agenesis of the corpus callosum (not with or without- some individuals do not demonstrate mirror movements and only have corpus callosum defects, even within the same family).


5-fluorouracil poisoning

5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men.


Flaviviridae infectious disease

Infections with viruses of the family flaviviridae.


endometrioid stromal and related neoplasms

A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites.


short stature with microcephaly and distinctive facies


panic disorder without agoraphobia

A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder.


prostate neuroendocrine neoplasm

A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas.


Al Gazali Khidr Prem Chandran syndrome

A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder.


acute quadriplegic myopathy

Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM.


oculomotor nerve neoplasm

A neoplasm involving a oculomotor nerve.


haemophilus meningitis

Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults.


nonsyndromic congenital nail disorder 1

Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterized by excessive longitudinal striations and loss of nail luster affecting all 20 nails.


recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.


seminal vesicle tumor

A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma.


precocious puberty, central, 2

Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene.


infiltrating angiolipoma

An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue.


radiation sensitivity/chromosome instability syndrome, autosomal dominant


malignant migrating partial seizures of infancy

A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay.


hereditary sensory and autonomic neuropathy

An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome.


Lewis-Sumner syndrome

A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy.


autosomal recessive congenital ichthyosis 4A

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene.


NAA10-related syndrome

Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies.


polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly

A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.


bullous lichen planus

Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions.


intellectual disability, autosomal recessive 58

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene.


hyperlipoproteinemia, type 1D

Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene.


megalencephalic leukoencephalopathy with subcortical cysts 1


pelvic dysplasia-arthrogryposis of lower limbs syndrome


early T cell progenitor acute lymphoblastic leukemia

T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation.


UROD-related inherited porphyria

Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the UROD gene.


endocrine tuberculosis

Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis.


uterine corpus carcinofibroma

An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component.


non-recovering obstetric brachial plexus lesion


complete atrioventricular canal-tetralogy of fallot syndrome


orbital dermoid cyst

A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative.


spastic paraplegia 80, autosomal dominant


PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome


disorder of gluconeogenesis

An inherited metabolic disease that is has its basis in the disruption of gluconeogenesis.


focal segmental glomerulosclerosis 9

Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene.


congenital anomalies of kidney and urinary tract 3


intellectual developmental disorder, autosomal dominant 72

An autosomal dominant intellectual disability disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features.


hypoglossal nerve disorder

A disease involving the hypoglossal nerve.


eccrine acrospiroma

A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors.


lymphoma, Hodgkin, Y-linked pseudoautosomal


Reynolds syndrome

An autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc).


monosomy 21

Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.


congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies

Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent.


growth delay due to insulin-like growth factor type 1 deficiency

Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.


familial hyperinflammatory lymphoproliferative immunodeficiency


lissencephaly spectrum disorder with complex brainstem malformation

A lissencephaly spectrum disorder that manifests as posterior predominant pachygyria (ranging from mild severity to classic lissencephaly) and brainstem malformations which include brainstem dysplasia (typically with reduced anteroposterior thickness and transverse broadening of the pons/medulla) and midline crossing defects (anterior commissure, transverse pontine fibers, pyramidal tract, callosum hypoplasia).


WT limb-blood syndrome

WT limb-blood syndrome is characterized by hematological anomalies (Fanconi anemia, leukemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant.


fetal akinesia deformation sequence 1

Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene.


sciatic neuropathy

Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)


axial spondylometaphyseal dysplasia

Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.


centrifugal lipodystrophy

Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.


torsion dystonia 17

A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12.


familial bicuspid aortic valve

A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).


immunodeficiency 76

An autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood.


autosomal recessive pseudohypoaldosteronism type 1

Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.


congenital heart defects, multiple types, 3


seminal vesicle acute gonorrhea

Acute form of gonococcal seminal vesiculitis.


hyperparathyroidism 2 with jaw tumors

An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts.


hereditary angioedema with normal C1inh not related to F12 or PLG variant


trench fever

An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse.


ectodermal dysplasia neurosensory deafness


severe congenital nemaline myopathy

Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.


encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities


chromosome 13 disorder

Chromosomal disorder in which chromosome 13 is affected.


st. Louis encephalitis

A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750)


adult onset pityriasis rubra pilaris

A pityriasis rubra pilaris that occurs around the fifth or sixth decade of life.


inflammatory myofibroblastic tumor

A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells.


chronic pain syndrome

Chronic form of disorder involving pain.


neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities


combined oxidative phosphorylation deficiency 28

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene.


metachromatic leukodystrophy, adult form


undifferentiated connective tissue syndrome

An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases.


peroxisome biogenesis disorder due to PEX11B defect

Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene.


mitochondrial complex 1 deficiency, nuclear type 36


cataract 32 multiple types

A cataract that has material basis in mutation in the region 14q22-q23.


autosomal recessive congenital ichthyosis 4B

Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.


testicular sex cord-stromal neoplasm

A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group.


neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features


primary ciliary dyskinesia 23

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene.


skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome


transient pseudohypoaldosteronism

Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants.


neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies


immunodeficiency 115 with autoinflammation


Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).


morphine dependence

Strong dependence, both physiological and emotional, upon morphine.


podoconiosis

A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils.


mitochondrial complex 1 deficiency, nuclear type 4


uterine corpus endometrial stromal sarcoma

A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma.


inflammatory leiomyosarcoma

A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells.


autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity


ciliary dyskinesia, primary, 48, without situs inversus


retinitis pigmentosa 3

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


myotonic dystrophy

An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.


acrocephalopolysyndactyly

A common presentation of craniosynostosis and polysyndactyly.


microcephaly, seizures, and developmental delay


chromosome 8, trisomy

A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.


familial rhabdoid tumor

A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.


cataract 10 multiple types

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene.


atrial fibrillation, familial, 3

Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene.


B-lymphoblastic leukemia/lymphoma with IAMP21

A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21.


autoimmune disorder of musculoskeletal system

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


retinitis pigmentosa 46

Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene.


sporadic hemiplegic migraine

A migraine disorder characterized by an aura that includes motor weakness and the absence of family history.


focal dermal hypoplasia

A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.


basal ganglia calcification, idiopathic, 8, autosomal recessive


dry age related macular degeneration

Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy.


Lelis syndrome

Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.


hereditary spastic paraplegia 53

A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.


symmetrical thalamic calcifications

Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.


hereditary sensory neuropathy X-linked

A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life.


chronic pulmonary heart disease

Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure.


autosomal recessive nonsyndromic hearing loss 88

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene.


combined oxidative phosphorylation deficiency

A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes.


GUCY2D-related dominant retinopathy

A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene.


exudative vitreoretinopathy

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.


neoplasm with perivascular epithelioid cell differentiation

A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis.


urachal sinus

Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected.


hereditary spastic paraplegia 2

Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.


triopia

A craniofacial malformation with prosencephalic duplication; the presence of three eyes.


mirror agnosia

An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.


Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.


Reoviridae infectious disease

Infections produced by reoviruses, general or unspecified.


Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.


methylcobalamin deficiency type cblG

Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.


Hao-Fountain syndrome due to 16p13.2 microdeletion

A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.


mesothelial neoplasm

A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003


thoracic disk degenerative disorder

Any degenerative disorder affecting one or more vertebral disks of the thoracic spine.


duplication/inversion 15q11

Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.


trigeminal autonomic cephalalgia

A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms.


urethra leiomyoma

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


granulomatous endometritis

Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis.


Oguchi disease-2

Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene.


avian influenza

Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry.


cytophagic histiocytic panniculitis

Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.


tetrasomy 5p

Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).


aminoacylase 1 deficiency

Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.


GUCY2D-related recessive retinopathy

A retinopathy caused by biallelic variants in the GUCY2D gene.


hypouricemia, familial renal, due to tubular hypersecretion


painful orbital and systemic neurofibromas-marfanoid habitus syndrome


acquired motor neuron disease

An instance of motor neuron disease that is acquired during the lifetime of the individual.


acromesomelic dysplasia, Campailla Martinelli type


autosomal dominant Charcot-Marie-Tooth disease type 2K

Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.


coronary artery disease, autosomal dominant 2

Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene.


agenesis of the superior vena cava

Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.


chronic rheumatic pericarditis

Chronic form of rheumatic pericarditis.


nasal cavity inverting papilloma

A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas.


neuronal ceroid lipofuscinosis 8

Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene.


Charcot-Marie-Tooth disease type 4F

Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.


Bartter disease type 4B

A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes.


Pelizaeus-Merzbacher disease, transitional form

The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD.


cryohydrocytosis

A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.