Li-Fraumeni syndrome

Preferred Label : Li-Fraumeni syndrome;

ICD-11 definition : Li Fraumeni syndrome is a cancer-predisposing inherited syndrome characterized by of a predisposition to developing any of a wide variety of tumors. The most characteristic tumors are osteosarcomas, soft-tissue sarcomas, breast cancers in young subjects, leukemias/lymphomas, cerebral tumors and adenocarcinoma; however, every type of tumor can be observed.;

Details

Origin ID

1968061860;

Automatic exact mappings (from CISMeF team)
- Li-fraumeni syndrome [OMIM Phenotype]
- tumor protein p53 [ORDO Gene]
- tumor protein p53 [HGNC gene]
Currated CISMeF NLP mapping
- Li-Fraumeni Syndrome [NCIt concept]
- Li-Fraumeni syndrome [ORDO Disease]
- Li-Fraumeni syndrome [MeSH concept]
- Li-Fraumeni syndrome [MedDRA Preferred Term]
- Li-Fraumeni syndrome [DO Concept]
- Li-Fraumeni syndrome [PASCAL descriptor]
- Li-Fraumeni syndrome (disorder) [SNOMED CT concept]
- Li-fraumeni syndrome [OMIM phenotypic series]
- li-fraumeni syndrome [MeSH Descriptor]

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