Hereditary Leiomyomatosis and Renal Cell Carcinoma

Preferred Label : Hereditary Leiomyomatosis and Renal Cell Carcinoma;

NCIt synonyms : FH Deficiency;

NCIt related terms : Hereditary leiomyomatosis & RCC-associated renal cell carcinoma; Hereditary Leiomyomatosis and Renal Cell Cancer; hereditary leiomyomatosis and renal cell cancer syndrome; HLRCC; Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome;

NCIt definition : An autosomal dominant inherited syndrome caused by germline mutations in the FH gene. It is characterized by predisposition to renal cell carcinoma, leiomyomas of the skin and uterus, and leiomyosarcoma of the uterus.;

Alternative definition : NCI-GLOSS: A rare inherited disorder that increases the risk of developing benign (not cancer) tumors of the skin and the uterus (leiomyomas) and malignant (cancer) tumors of the uterus (leiomyosarcoma) and the kidney.;

Neoplastic status : Malignant;

Codes from synonyms : CDR0000305992; CDR0000532346;

Details

Origin ID

C51302;

UMLS CUI

C1708350;

Currated CISMeF NLP mapping
- Hereditary leiomyomatosis and renal cell cancer [MeSH Supplementary Concept]
- Hereditary leiomyomatosis and renal cell cancer [ICD-11 More detail]
- Hereditary leiomyomatosis and renal cell cancer [ORDO Disease]
- Hereditary leiomyomatosis and renal cell cancer [MeSH concept]
- Hereditary leiomyomatosis and renal cell cancer [OMIM Phenotype]
- Hereditary leiomyomatosis and renal cell carcinoma (disorder) [SNOMED CT concept]
- Hereditary leiomyomatosis renal cell carcinoma [MedDRA Preferred Term]
- Multiple cutaneous and uterine leiomyomatosis [MedDRA Preferred Term]
- Multiple cutaneous leiomyomas [HPO term]
- Reed syndrome [MedDRA LLT]
- hereditary leiomyomatosis and renal cell cancer syndrome [Disease (Nov.)]
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]
- Flank Pain [NCIt concept]
- Hematuria [NCIt concept]
- Multiple Tumor Masses [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 leiomyomatosis and renal cell cancer [OMIM Phenotype]
- Hereditary leiomyomatosis and renal cell cancer [MeSH concept]
- Hereditary leiomyomatosis and renal cell cancer [MeSH Supplementary Concept]
- Hereditary leiomyomatosis and renal cell cancer [ORDO Disease]
- Hereditary leiomyomatosis and renal cell cancer [ICD-11 More detail]
- Hereditary leiomyomatosis and renal cell carcinoma (disorder) [SNOMED CT concept]
- Hereditary leiomyomatosis renal cell carcinoma [MedDRA Preferred Term]
- Multiple cutaneous and uterine leiomyomatosis [MedDRA Preferred Term]
- Multiple cutaneous leiomyomas [HPO term]
- Reed syndrome [MedDRA LLT]
- hereditary leiomyomatosis and renal cell cancer syndrome [Disease (Nov.)]
associated_with_malfunction_of_gene_product
- Fumarate Hydratase, Mitochondrial [NCIt concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology PT Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology Terminology [NCIt concept]
- Mapped ICDO3.2 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]
- Neoplastic Large Cell with Abundant Eosinophilic Cytoplasm [NCIt concept]
disease_has_associated_disease
- Skin Leiomyoma [NCIt concept]
- Uterine Corpus Leiomyoma [NCIt concept]
disease_has_finding
- Carcinomatous Component Present [NCIt concept]
- Epithelial Component Present [NCIt concept]
- Hereditary Lesion [NCIt concept]
- Macronodular Adrenal Hyperplasia [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
- Uterine Corpus Leiomyosarcoma [NCIt concept]
may_be_associated_disease_of_disease
- Fumarate Hydratase-Deficient Renal Cell Carcinoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- FH Gene [NCIt concept]
- FH wt Allele [NCIt concept]
related_to_genetic_biomarker
- FH Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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