Retinoblastoma

Preferred Label : Retinoblastoma;

NCIt related terms : RB; Retinoblastoma, NOS; RETINOBLASTOMA, MALIGNANT;

NCIt definition : A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.;

Alternative definition : NCI-GLOSS: Cancer that forms in the tissues of the retina (the light-sensitive layers of nerve tissue at the back of the eye). Retinoblastoma usually occurs in children younger than 5 years. It may be hereditary or nonhereditary (sporadic).; CDISC: A malignant neoplasm originating in the nuclear layer of the retina.;

Neoplastic status : Malignant;

ICD-O code : 9510/3;

Codes from synonyms : 10038918; CDR0000046774;

Details

Origin ID

C7541;

UMLS CUI

C0035335;

Automatic exact mappings (from CISMeF team)
- RB transcriptional corepressor 1 [ORDO Gene]
- Retinoblastoma [ACR pathology]
- Retinoblastoma NOS [ICD-9 code]
- Retinoblastoma, NOS [ICD-11 Extension code]
- Roberts-sc phocomelia syndrome [OMIM Phenotype]
- establishment of sister chromatid cohesion N-acetyltransferase 2 [ORDO Gene]
- eye cancer [MedlinePlus Topic]
Currated CISMeF NLP mapping
- RETINOBLASTOMA [WHO-ART Preferred Term]
- Retinoblastoma [PASCAL descriptor]
- Retinoblastoma [ICD-11 Subcategory]
- Retinoblastoma [HPO term]
- Retinoblastoma [MedDRA Preferred Term]
- Retinoblastoma [OMIM Phenotype]
- Retinoblastoma [ORDO Disease]
- Retinoblastoma [HRDO Sign]
- Retinoblastoma (disorder) [SNOMED CT concept]
- Retinoblastoma (morphologic abnormality) [SNOMED CT concept]
- Retinoblastoma NOS [MedDRA LLT]
- Retinoblastoma, NOS [ICD-O code]
- retinoblastoma [DO Concept]
- retinoblastoma [Disease (Nov.)]
- retinoblastoma [MeSH Descriptor]
- retinoblastoma [MeSH concept]
- retinoblastoma [Radlex concept]
- retinoblastoma, nos [SNOMED Notion]
DO Cross reference
- 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]
HPO term
- Retinoblastoma [HPO term]
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 [WHO-ART Preferred Term]
- Retinoblastoma [ORDO Disease]
- Retinoblastoma [OMIM Phenotype]
- Retinoblastoma [HPO term]
- Retinoblastoma [HRDO Sign]
- Retinoblastoma [PASCAL descriptor]
- Retinoblastoma [MedDRA Preferred Term]
- Retinoblastoma (disorder) [SNOMED CT concept]
- Retinoblastoma (morphologic abnormality) [SNOMED CT concept]
- Retinoblastoma NOS [MedDRA LLT]
- Retinoblastoma, NOS [ICD-O code]
- retinoblastoma [Radlex concept]
- retinoblastoma [DO Concept]
- retinoblastoma [Disease (Nov.)]
- retinoblastoma [MeSH Descriptor]
- retinoblastoma [MeSH concept]
- retinoblastoma, nos [SNOMED Notion]
associated_with_malfunction_of_gene_product
- Methylated-DNA-Protein-Cysteine Methyltransferase [NCIt concept]
- Protein Mdm4 [NCIt concept]
concept_is_in_subset
- CDISC SEND Terminology [NCIt concept]
- CDISC SEND Tumor Findings Results Terminology [NCIt concept]
- CPTAC Codelists Terminology [NCIt concept]
- CPTAC Neoplasms Codelist [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- CTS-API Disease Main Type Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium 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 Retinoblastoma Sub-Category Terminology [NCIt concept]
- NCI CTEP Simplified Disease Classification Terminology [NCIt concept]
- NCIt Neoplasm Core Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- OS Authorized Value Terminology [NCIt concept]
- OS Medical History Table [NCIt concept]
- Pediatric Adverse Events Terminology [NCIt concept]
- Pediatric Adverse Events Terminology Mapped to MedDRA [NCIt concept]
- Pediatric Hematology-Oncology 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_gene
- MDM4 Gene [NCIt concept]
- MDM4 wt Allele [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
- NMYC Gene Amplification [NCIt concept]
has_biomarker_gene_product
- Retinoblastoma-Associated Protein [NCIt concept]
neoplasm_has_special_category
- Solid Neoplasm [NCIt concept]
pathogenesis_of_disease_involves_gene
- RB1 Gene [NCIt concept]
- RB1 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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