Hereditary leiomyomatosis and renal cell cancer

Preferred Label : Hereditary leiomyomatosis and renal cell cancer;

ICD-11 definition : Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant hereditary cancer syndrome characterized by a predisposition to cutaneous pilar leiomyomata, uterine leiomyomata in women and renal cell cancer. The condition is associated in up to 16% of cases with aggressive renal cell carcinoma. Diagnosis is based on either the presence of multiple cutaneous leiomyomas with at least 1 histologically confirmed leiomyoma or the presence of a single leiomyoma with a positive family history of the disease.;

ICD-11 synonym : Multiple cutaneous or uterine leiomyomata 1, with or without renal cell carcinoma; HLRCC - [hereditary leiomyomatosis and renal cell cancer]; Hereditary multiple cutaneous leiomyomas; Reed syndrome; Familial leiomyomatosis cutis et uteri;

ICD-11 acronym : HLRCC;

Details

Origin ID

754002573;

UMLS CUI

C1708350;

Currated CISMeF NLP mapping
- Hereditary Leiomyomatosis and Renal Cell Carcinoma [NCIt concept]
- Hereditary leiomyomatosis and renal cell cancer [ORDO Disease]
- Hereditary leiomyomatosis and renal cell cancer [OMIM Phenotype]
- Hereditary leiomyomatosis and renal cell cancer [MeSH Supplementary Concept]
- Hereditary leiomyomatosis and renal cell cancer [MeSH concept]
- 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.)]
See also inter- (CISMeF)
- FH wt Allele [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary Leiomyomatosis and Renal Cell Carcinoma [NCIt 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 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.)]

Keyword's position in hierarchy(ies) :

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