SMARCB1-Deficient Kidney Medullary Carcinoma

Preferred Label : SMARCB1-Deficient Kidney Medullary Carcinoma;

NCIt synonyms : SMARCB1-Deficient Renal Medullary Carcinoma;

NCIt definition : A high-grade carcinoma that arises from the renal medulla and is characterized by inactivation of the SMARCB1 gene. It affects children and adults and occurs mainly in patients with sickle cell trait. The majority of the cases occur in the right kidney.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL1794128;

Details

Origin ID

C189247;

UMLS CUI

C5708330;

Disease excludes abnormal cell
- Malignant Stromal Cell [NCIt concept]
- Neoplastic Smooth Muscle Cell [NCIt concept]
Disease may have findings
- Aggressive Clinical Course [NCIt concept]
- Flank Pain [NCIt concept]
- Hematuria [NCIt concept]
- Microcystic Growth Pattern [NCIt concept]
- Reticular Growth Pattern [NCIt concept]
Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Kidney and Ureter [NCIt concept]
- Urinary System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
disease_has_abnormal_cell
- Adenocarcinoma Cell with Intracytoplasmic Mucin [NCIt concept]
- Malignant Cell [NCIt concept]
- Malignant Epithelial Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Epithelial Cell [NCIt concept]
disease_has_finding
- Carcinomatous Component Present [NCIt concept]
- Epithelial Component Present [NCIt concept]
- Infiltrative Growth Pattern [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Poorly Differentiated Lesion [NCIt concept]
disease_has_molecular_abnormality
- SMARCB1 Gene Inactivation [NCIt concept]
disease_has_normal_cell_origin
- Epithelial Cell [NCIt concept]
disease_has_normal_tissue_origin
- Epithelial Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Renal Medulla [NCIt concept]
- Urinary System [NCIt concept]
disease_mapped_to_gene
- SMARCB1 Gene [NCIt concept]
disease_may_have_associated_disease
- Sickle Cell Trait [NCIt concept]
pathogenesis_of_disease_involves_gene
- SMARCB1 Gene [NCIt concept]
- SMARCB1 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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