Trilateral Retinoblastoma

Preferred Label : Trilateral Retinoblastoma;

NCIt definition : Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999).;

Neoplastic status : Malignant;

Détails

Origin ID

C7019;

UMLS CUI

C2608045;

Automatic exact mappings (from CISMeF team)
- trilateral retinoblastoma [DO Concept]
Disease may have findings
- Calcification [NCIt concept]
- Flexner-Wintersteiner Rosette Formation [NCIt concept]
- Homer Wright Rosette Formation [NCIt concept]
- Necrotic Change [NCIt concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Eye [NCIt concept]
- Nervous System [NCIt concept]
- Retina [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
concept_is_in_subset
- NCIt Neoplasm Core Terminology [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Indolent Clinical Course [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Malignant Small Hyperchromatic Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Neuroepithelial Cell [NCIt concept]
- Neoplastic Neuroepithelial Cell and Neoplastic Perineural Cell [NCIt concept]
- Neoplastic Retinal Ganglion Cell [NCIt concept]
disease_has_associated_disease
- Bilateral Retinoblastoma [NCIt concept]
- Brain Neoplasm [NCIt concept]
disease_has_finding
- Malignant Cellular Infiltrate [NCIt concept]
disease_has_molecular_abnormality
- Cell Cycle Deregulation [NCIt concept]
- RB-E2F Pathway Deregulation [NCIt concept]
- RB1 Gene Mutation [NCIt concept]
disease_has_normal_cell_origin
- Neuroepithelial Cell [NCIt concept]
- Neuron, Neuroepithelial Cell, and Supporting Cell of the Nervous System [NCIt concept]
- Photoreceptor Cell [NCIt concept]
disease_has_normal_tissue_origin
- Nerve Tissue, Neuroepithelial Tissue, and Nerve Sheaths [NCIt concept]
- Neural Retina [NCIt concept]
- Neuroepithelial Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Retina [NCIt concept]
disease_mapped_to_gene
- RB1 Gene [NCIt concept]
disease_may_have_cytogenetic_abnormality
- Loss of Chromosome 13q [NCIt concept]
disease_may_have_molecular_abnormality
- MYCN Gene Amplification [NCIt concept]
may_be_associated_disease_of_disease
- Pineoblastoma, RB1-Altered [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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