Hereditary Retinoblastoma

Preferred Label : Hereditary Retinoblastoma;

NCIt synonyms : Familial Retinoblastoma; Hereditary Retinoblastoma RB1; Retinoblastoma Syndrome;

NCIt definition : An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities affecting the RB1 gene. Patients with the inherited form appear to be at increased risk for secondary non-ocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.;

Neoplastic status : Malignant;

Details

Origin ID

C8495;

UMLS CUI

C0751483;

Automatic exact mappings (from CISMeF team)
- Hereditary retinoblastoma [ORDO Disease]
- retinoblastoma [MeSH Descriptor]
Currated CISMeF NLP mapping
- familial retinoblastoma [DO Concept]
- familial retinoblastoma [Disease (Nov.)]
- familial retinoblastoma [MeSH concept]
DO Cross reference
- familial 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)
- Hereditary retinoblastoma [ORDO Disease]
- familial retinoblastoma [DO Concept]
- familial retinoblastoma [Disease (Nov.)]
- familial retinoblastoma [MeSH concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- HL Authorized Value Terminology [NCIt concept]
- HL Medical History Table [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
- Hereditary 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_associated_disease
- Chondrosarcoma [NCIt concept]
- Epithelial Neoplasm [NCIt concept]
- Ewing Sarcoma [NCIt concept]
- Fibrosarcoma [NCIt concept]
- Hematopoietic and Lymphoid Cell Neoplasm [NCIt concept]
- Melanoma [NCIt concept]
- Osteosarcoma [NCIt concept]
- Pineoblastoma [NCIt concept]
disease_may_have_cytogenetic_abnormality
- Loss of Chromosome 13q [NCIt concept]
disease_may_have_molecular_abnormality
- NMYC Gene Amplification [NCIt concept]
related_to_genetic_biomarker
- RB1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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