National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Preferred Name

Hereditary Leiomyomatosis and Renal Cell Carcinoma

Synonyms

hereditary leiomyomatosis and renal cell cancer syndrome

Hereditary leiomyomatosis & RCC-associated renal cell carcinoma

Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome

FH Deficiency

Hereditary Leiomyomatosis and Renal Cell Cancer

Hereditary Leiomyomatosis and Renal Cell Carcinoma

HLRCC

Definitions

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.

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C51302

ALT_DEFINITION

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.

code

C51302

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C168661

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C168656

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C168662

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177537

Contributing_Source

Cellosaurus

CCPS

CTRP

GDC

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.

Display_Name

Hereditary Leiomyomatosis and Renal Cell Cancer

FULL_SYN

hereditary leiomyomatosis and renal cell cancer syndrome

Hereditary leiomyomatosis & RCC-associated renal cell carcinoma

Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome

FH Deficiency

Hereditary Leiomyomatosis and Renal Cell Cancer

Hereditary Leiomyomatosis and Renal Cell Carcinoma

HLRCC

Is_Value_For_GDC_Property

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177621

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17103

label

Hereditary Leiomyomatosis and Renal Cell Carcinoma

Legacy Concept Name

Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer

Maps_To

Hereditary leiomyomatosis & RCC-associated renal cell carcinoma

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome-associated renal cell carcinoma

Hereditary Leiomyomatosis and Renal Cell Carcinoma

Neoplastic_Status

Malignant

Preferred_Name

Hereditary Leiomyomatosis and Renal Cell Carcinoma

prefixIRI

Thesaurus:C51302

Related_To_Genetic_Biomarker

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C95268

Semantic_Type

Neoplastic Process

UMLS_CUI

C1708350

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C39789

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3266

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