Hereditary Clear Cell Renal Cell Carcinoma

Preferred Label : Hereditary Clear Cell Renal Cell Carcinoma;

NCIt synonyms : Hereditary Clear Cell RCC; Hereditary Conventional Clear Cell Renal Cell Carcinoma;

NCIt related terms : Hereditary Clear Cell Renal Cell Cancer;

NCIt definition : Clear cell renal cell carcinoma that has developed in relatives of patients with a history of clear cell renal cell carcinoma. A representative example is clear cell renal cell carcinoma associated with biallelic loss/inactivation of the von Hippel Lindau tumor suppressor gene.;

Neoplastic status : Malignant;

Details

Origin ID

C36260;

UMLS CUI

C1333985;

Currated CISMeF NLP mapping
- Hereditary clear cell renal cell carcinoma [ORDO Disease]
- Hereditary primary clear cell renal cell carcinoma (disorder) [SNOMED CT concept]
- hereditary conventional renal cell carcinoma [DO Concept]
DO Cross reference
- hereditary conventional renal cell carcinoma [DO Concept]
Disease excludes abnormal cell
- Malignant Squamous Cell [NCIt concept]
- Malignant Stromal Cell [NCIt concept]
- Neoplastic Smooth Muscle Cell [NCIt concept]
- Neoplastic Squamous Cell [NCIt concept]
Disease may have findings
- Bilateral Disease [NCIt concept]
- Calcification [NCIt concept]
- Cystic Change [NCIt concept]
- Flank Pain [NCIt concept]
- Hematuria [NCIt concept]
- Multiple Tumor Masses [NCIt concept]
- Necrotic Change [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]
UMLS correspondences (same concept)
- Hereditary primary clear cell renal cell carcinoma (disorder) [SNOMED CT concept]
- hereditary conventional renal cell carcinoma [DO Concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- NCIt Neoplasm Core Terminology [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Mixed Neoplastic Glandular and Squamous Cell Population [NCIt concept]
disease_has_abnormal_cell
- Adenocarcinoma Cell [NCIt concept]
- Adenocarcinoma Clear Cell [NCIt concept]
- Malignant Cell [NCIt concept]
- Malignant Epithelial Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Epithelial Cell [NCIt concept]
- Neoplastic Glandular Cell [NCIt concept]
disease_has_finding
- Carcinomatous Component Present [NCIt concept]
- Delicate Vascular Network Formation [NCIt concept]
- Epithelial Component Present [NCIt concept]
- HIF1A Overexpression Positive [NCIt concept]
- Hereditary Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
disease_has_molecular_abnormality
- Inactivating VHL Gene Mutation [NCIt concept]
disease_has_normal_cell_origin
- Epithelial Cell [NCIt concept]
- Renal Tubular Epithelial Cell [NCIt concept]
disease_has_normal_tissue_origin
- Epithelial Tissue [NCIt concept]
- Renal Tubule Epithelium [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Renal Tubule [NCIt concept]
- Urinary System [NCIt concept]
disease_mapped_to_gene
- VHL Gene [NCIt concept]

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