Preferred Name

Retinoblastoma

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7541

ALT_DEFINITION

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).

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.

A malignant neoplasm originating in the nuclear layer of the retina.

code

C7541

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C126659

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C168661

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C158520

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C168655

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C138188

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C103061

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177537

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C168657

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C88025

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156966

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61410

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C189762

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C138190

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118464

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C179478

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C179491

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156952

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102905

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C168662

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C132009

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C168656

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C168658

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C77526

Contributing_Source

MedDRA

CPTAC

NICHD

CDISC

CTEP

CTRP

GDC

Cellosaurus

PCDC

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.

Display_Name

Retinoblastoma

FULL_SYN

RETINOBLASTOMA, MALIGNANT

Retinoblastoma, NOS

RB

retinoblastoma

Retinoblastoma

ICD-O-3_Code

9510/3

Is_Value_For_GDC_Property

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C176985

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177621

label

Retinoblastoma

Legacy Concept Name

Retinoblastoma

Maps_To

9510/3

Retinoblastoma, NOS

Retinoblastoma

Neoplasm_Has_Special_Category

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C9292

Neoplastic_Status

Malignant

Preferred_Name

Retinoblastoma

prefixIRI

Thesaurus:C7541

prefLabel

Retinoblastoma

Semantic_Type

Neoplastic Process

UMLS_CUI

C0035335

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3216

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4627

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7061

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_768 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_768 Cell Line Ontology Subset for Chinese National Infrastructure of Cell Line Resource (NICR) / 国家实验细胞资源共享服务平台(NICR)细胞系本体子集 LOOM
http://purl.obolibrary.org/obo/DOID_768 Human Disease Ontology / 人类疾病本体 LOOM
http://www.orpha.net/ORDO/Orphanet_790 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/LNC/LA16305-7 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/OMIM/180200 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/MESH/D012175 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU034783 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0035335 MedlinePlus Health Topics / MedlinePlus网站健康主题 LOOM
http://purl.obolibrary.org/obo/NCIT_C7541 中国人类表型本体 / Human Phenotype Ontology China LOOM
http://purl.bmicc.cn/ontology/ICD11CN/2D02.2 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM
http://purl.obolibrary.org/obo/MPATH_378 中国人类表型本体 / Human Phenotype Ontology China LOOM
http://purl.obolibrary.org/obo/MONDO_0008380 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0008380 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/HP_0009919 Human Phenotype Ontology / 人类表型本体 LOOM