Diffuse Retinoblastoma

Preferred Label : Diffuse Retinoblastoma;

NCIt definition : A retinoblastoma characterized by the absence of a distinct retinal mass and the presence of malignant cells diffusely infiltrating the retina. It is often confused with uveitis and endophthalmitis, resulting in delayed diagnosis of the malignancy.;

Neoplastic status : Malignant;

ICD-O code : 9513/3;

Details

Origin ID

C66815;

UMLS CUI

C1266185;

Automatic exact mappings (from CISMeF team)
- Retinoblastoma, diffuse [ICD-O code]
- Retinoblastoma, diffuse [ICD-11 Extension code]
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
- 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]
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_finding
- Diffuse Lesion [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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