Rhabdoid Tumor

Preferred Label : Rhabdoid Tumor;

NCIt synonyms : Rhabdoid Sarcoma;

NCIt related terms : Rhabdoid tumor, NOS;

NCIt definition : An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor.;

Alternative definition : NCI-GLOSS: A malignant tumor of either the central nervous system (CNS) or the kidney. Malignant rhabdoid tumors of the CNS often have an abnormality of chromosome 22. These tumors usually occur in children younger than 2 years.; NICHD: Extremely aggressive malignancies that generally occur in infants and young children. The most common locations are the kidney and central nervous system (CNS), although they can also arise in most soft tissue sites. Approximately two-thirds of patients will present with advanced-stage disease. Rhabdoid tumors of the kidney tend to metastasize to the CNS and lungs. Rhabdoid tumors are associated with mutations of SMARCB1 (INI-1), a tumor suppressor gene.; NCI-GLOSS: An aggressive cancer of the central nervous system, kidney, or liver that occurs in very young children.;

Neoplastic status : Malignant;

ICD-O code : 8963/3;

Codes from synonyms : CDR0000046139;

Details

Origin ID

C3808;

UMLS CUI

C0206743;

Automatic exact mappings (from CISMeF team)
- Malignant rhabdoid tumor (morphologic abnormality) [SNOMED CT concept]
- Rhabdoid tumor, NOS [ICD-11 Extension code]
- atypical teratoid rhabdoid tumor [Radlex concept]
- rhabdoid cancer [DO Concept]
- rhabdoid sarcoma [SNOMED Notion]
Currated CISMeF NLP mapping
- Rhabdoid tumor [MedDRA LLT]
- Rhabdoid tumor [PASCAL descriptor]
- Rhabdoid tumor [ORDO Disease]
- Rhabdoid tumour [MedDRA Preferred Term]
- rhabdoid tumor [Disease (Nov.)]
- rhabdoid tumor [MeSH Descriptor]
- rhabdoid tumor [MeSH concept]
- rhabdoid tumor predisposition syndrome 1 [MeSH concept]
- rhabdoid tumor predisposition syndrome 1 [MeSH Supplementary Concept]
DO Cross reference
- rhabdoid cancer [DO Concept]
Disease may have findings
- Aggressive Clinical Course [NCIt concept]
- High Mitotic Activity [NCIt concept]
- Loss of INI 1 Protein Expression [NCIt concept]
- Necrotic Change [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Malignant rhabdoid tumor (disorder) [SNOMED CT concept]
- Malignant rhabdoid tumor (morphologic abnormality) [SNOMED CT concept]
- Rhabdoid tumor [MedDRA LLT]
- Rhabdoid tumor [ORDO Disease]
- Rhabdoid tumour [MedDRA Preferred Term]
- rhabdoid cancer [DO Concept]
- rhabdoid sarcoma [SNOMED Notion]
- rhabdoid tumor [Disease (Nov.)]
- rhabdoid tumor [MeSH concept]
- rhabdoid tumor [MeSH Descriptor]
Validated automatic mappings to BTNT
- Rhabdoid tumor predisposition syndrome 1 [OMIM Phenotype]
associated_with_malfunction_of_gene_product
- Stromal Interaction Molecule 1 [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- Mapped ICDO3.1 Morphology PT Terminology [NCIt concept]
- Mapped ICDO3.1 Morphology Terminology [NCIt concept]
- Mapped ICDO3.1 Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology PT Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology Terminology [NCIt concept]
- Mapped ICDO3.2 Terminology [NCIt concept]
- NCIt Neoplasm Core Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_excludes_normal_tissue_origin
- Germinal Layer [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell with Large Nucleus and Abundant Eosinophilic Cytoplasm [NCIt concept]
- Neoplastic Cell [NCIt concept]
disease_has_associated_gene
- STIM1 Gene [NCIt concept]
- STIM1 wt Allele [NCIt concept]
disease_has_grade
- Grade 4 [NCIt concept]
disease_has_normal_cell_origin
- Embryonic Cell [NCIt concept]
disease_has_normal_tissue_origin
- Embryonic Tissue [NCIt concept]
disease_mapped_to_gene
- SMARCB1 Gene [NCIt concept]
disease_may_have_abnormal_cell
- Non-Neoplastic Osteoclast-Like Giant Cell [NCIt concept]
disease_may_have_cytogenetic_abnormality
- Loss of Chromosome 22 [NCIt concept]
disease_may_have_molecular_abnormality
- SMARCB1 Gene Mutation [NCIt concept]
pathogenesis_of_disease_involves_gene
- SMARCB1 Gene [NCIt concept]
- SMARCB1 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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