Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC). [ Orphanet : 524 ]
This is just here as a test because I lose it
Term information
database
cross reference
- SCTID:428850001 (MONDO:equivalentTo)
- ICD9:V84.01 (MONDO:relatedTo)
- DOID:3012 (MONDO:equivalentTo)
- UMLS:C0085390 (Orphanet:524/e)
- OMIMPS:151623 (MONDO:equivalentTo)
- GARD:0006902 (MONDO:equivalentTo)
- MedDRA:10066795 (Orphanet:524/e)
- Orphanet:524 (MONDO:equivalentTo)
- NCIT:C3476 (MONDO:exact-label-match)
- MESH:D016864 (Orphanet:524/e)
Subsets
ordo_disease
closeMatch
- http://identifiers.org/meddra/10066795
definition
- Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC).
exactMatch
- https://omim.org/phenotypicSeries/PS151623
- http://identifiers.org/snomedct/428850001
- http://linkedlifedata.com/resource/umls/id/C0085390
- http://purl.obolibrary.org/obo/NCIT_C3476
- http://identifiers.org/mesh/D016864
- http://www.orpha.net/ORDO/Orphanet_524
- http://purl.obolibrary.org/obo/DOID_3012
has exact synonym
- Li-Fraumeni familial cancer susceptibility syndrome
- sarcoma, breast, leukaemia and adrenal gland syndrome
- Li-Fraumeni syndrome
- Li-Fraumeni familiar cancer susceptibility syndrome
- SBLA syndrome
has related synonym
- sarcoma family syndrome of Li and Fraumeni
- Li Fraumeni syndrome
- SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)
id
- MONDO:0018875
should conform to
- http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml