Bilateral Retinoblastoma

Preferred Label : Bilateral Retinoblastoma;

NCIt definition : Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well.;

Neoplastic status : Malignant;

Details

Origin ID

C8713;

UMLS CUI

C0854914;

Automatic exact mappings (from CISMeF team)
- bilateral retinoblastoma [DO Concept]
Currated CISMeF NLP mapping
- Retinoblastoma bilateral [MedDRA LLT]
DO Cross reference
- bilateral 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]
UMLS correspondences (same concept)
- Retinoblastoma bilateral [MedDRA LLT]
- bilateral retinoblastoma [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- 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
- Trilateral Retinoblastoma [NCIt concept]
disease_has_finding
- Bilateral Disease [NCIt concept]
- 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
- NMYC Gene Amplification [NCIt concept]

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