Atypical Teratoid/Rhabdoid Tumor

Preferred Label : Atypical Teratoid/Rhabdoid Tumor;

NCIt synonyms : Primary Malignant Brain Rhabdoid Tumor; Central Nervous System Rhabdoid Neoplasm; Malignant Rhabdoid Tumor of Brain; Rhabdoid Neoplasm of the Central Nervous System; Primary Malignant Rhabdoid Neoplasm of the Brain; Malignant Rhabdoid Tumor of the Brain; Primary Malignant Rhabdoid Neoplasm of Brain; Rhabdoid Tumor of the Central Nervous System; Atypical Teratoid/Rhabdoid Tumor (WHO Grade IV); Rhabdoid Neoplasm of CNS; CNS Rhabdoid Tumor; Rhabdoid Tumor of CNS; Malignant Rhabdoid Neoplasm of the Brain; Malignant Brain Rhabdoid Tumor; Primary Malignant Rhabdoid Tumor of the Brain; Rhabdoid Neoplasm of Central Nervous System; Rhabdoid Tumor of the CNS; Malignant Rhabdoid Neoplasm of Brain; CNS Rhabdoid Neoplasm; Central Nervous System Rhabdoid Tumor; Rhabdoid Tumor of Central Nervous System; Rhabdoid Neoplasm of the CNS; Primary Malignant Brain Rhabdoid Neoplasm; Malignant Brain Rhabdoid Neoplasm; Primary Malignant Rhabdoid Tumor of Brain; Atypical Teratoid/Rhabdoid Tumor (WHO Grade 4); Atypical Teratoid Rhabdoid Tumor; ATRT;

NCIt related terms : ATT/RHT; AT/RT;

NCIt definition : An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the SMARCB1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia.;

Neoplastic status : Malignant;

ICD-O code : 9508/3;

Codes from synonyms : CDR0000584380; CDR0000584379; 10065870; CDR0000285639;

Details

Origin ID

C6906;

UMLS CUI

C1266184;

Automatic exact mappings (from CISMeF team)
- Enolase superfamily member 1 [OMIM gene]
- Protein o-mannosyltransferase 1 [OMIM gene]
- RNA-directed DNA polymerase activity [GO term]
- Rett's disorder (disorder) [SNOMED CT concept]
- Rhabdoid tumor predisposition syndrome 1 [OMIM Phenotype]
DO Cross reference
- atypical teratoid rhabdoid tumor [DO Concept]
Disease may have findings
- Aggressive Clinical Course [NCIt concept]
- High Mitotic Activity [NCIt concept]
- Loss of BRG1 Protein Expression [NCIt concept]
- Loss of INI 1 Protein Expression [NCIt concept]
- Necrotic Change [NCIt concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- teratoid tumor, atypical [MeSH concept]
- teratoid tumor, atypical [MeSH Supplementary Concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
concept_is_in_subset
- CPTAC Codelists Terminology [NCIt concept]
- CPTAC Neoplasms Codelist [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTS-API Disease Main Type Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Clinical Trials Search-Application Programming Interface Disease Category 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]
- NCI CTEP SDC Embryonal Tumors of the CNS Sub-Category Terminology [NCIt concept]
- NCI CTEP Simplified Disease Classification Terminology [NCIt concept]
- NCIt Neoplasm Core Terminology [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Indolent Clinical Course [NCIt concept]
disease_excludes_normal_tissue_origin
- Germinal Layer [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Malignant Cell with Large Nucleus and Abundant Eosinophilic Cytoplasm [NCIt concept]
- Malignant Neuroectodermal Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
disease_has_associated_disease
- Rhabdoid Tumor Predisposition Syndrome [NCIt concept]
- Rhabdoid Tumor Predisposition Syndrome 1 [NCIt concept]
- Rhabdoid Tumor Predisposition Syndrome 2 [NCIt concept]
disease_has_finding
- Intermediate Filaments Present [NCIt concept]
- Intracytoplasmic Eosinophilic Inclusion [NCIt concept]
- Malignant Cellular Infiltrate [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_has_primary_anatomic_site
- Central Nervous System [NCIt concept]
disease_mapped_to_gene
- SMARCA4 Gene [NCIt concept]
- 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
- SMARCA4 Gene Mutation [NCIt concept]
- SMARCB1 Gene Mutation [NCIt concept]
neoplasm_has_special_category
- Solid Neoplasm [NCIt concept]
pathogenesis_of_disease_involves_gene
- SMARCA4 Gene [NCIt concept]
- SMARCA4 wt Allele [NCIt concept]

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