Fumarate Hydratase-Deficient Renal Cell Carcinoma

Preferred Label : Fumarate Hydratase-Deficient Renal Cell Carcinoma;

NCIt synonyms : FH-Deficient Renal Cell Carcinoma; FH-Deficient RCC; Fumarate Hydratase Deficient Renal Cell Carcinoma;

NCIt definition : A rare, highly aggressive renal cell carcinoma caused by germline or (in a subset) somatic mutation of fumarate hydratase gene. It arises mostly in the setting of hereditary leiomyomatosis-renal cell carcinoma syndrome.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL977349;

Details

Origin ID

C164156;

UMLS CUI

C5236017;

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
- Flank Pain [NCIt concept]
- Hematuria [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]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP 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]
- 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
- Aggressive Clinical Course [NCIt concept]
- Carcinomatous Component Present [NCIt concept]
- Epithelial Component Present [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
disease_has_molecular_abnormality
- FH 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
- FH Gene [NCIt concept]
disease_may_have_associated_disease
- Hereditary Leiomyomatosis and Renal Cell Carcinoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- FH Gene [NCIt concept]
- FH wt Allele [NCIt concept]

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