li-fraumeni syndrome

Preferred Label : li-fraumeni syndrome;

MeSH definition : Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.;

MeSH synonym : li fraumeni syndrome;

CISMeF synonym : Li-Fraumeni; Li Fraumeni; li-fraumeni's syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Li fraumeni syndrome;

Détails

Origin ID

D016864;

UMLS CUI

C0085390;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
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 [Disease (Nov.)]
- Li-Fraumeni Syndrome [NCIt concept]
- Li-Fraumeni syndrome [DO Concept]
- Li-Fraumeni syndrome [PASCAL descriptor]
- Li-Fraumeni syndrome [ICD-11 More detail]
- Li-Fraumeni syndrome [MedDRA Preferred Term]
- Li-Fraumeni syndrome [ORDO Disease]
- Li-Fraumeni syndrome (disorder) [SNOMED CT concept]
- Li-fraumeni syndrome [OMIM phenotypic series]
DO Cross reference
- Li-Fraumeni syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- Inherited cancer-predisposing syndrome [ORDO Disease]
ORDO relation(s)
- Li-Fraumeni syndrome [ORDO Disease]
Record concept(s)
- Li-Fraumeni syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- Li-Fraumeni syndrome 2 [MeSH Supplementary Concept]
- Li-Fraumeni syndrome 3 [MeSH Supplementary Concept]
- Li-Fraumeni-Like syndrome [MeSH Supplementary Concept]
- sarcoma family syndrome of li and fraumeni [MeSH Supplementary Concept]
See also
- genes, p53 [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Li Fraumeni syndrome [Disease (Nov.)]
- Li-Fraumeni Syndrome [NCIt concept]
- Li-Fraumeni syndrome [ORDO Disease]
- 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 Phenotype]

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