loading...| Preferred Name |
Hereditary Retinoblastoma |
|
| Synonyms |
Retinoblastoma Syndrome Familial Retinoblastoma Hereditary Retinoblastoma |
|
| Definitions |
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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C8495 |
|
| code |
C8495 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C186315 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516 |
|
| Contributing_Source |
CCPS PCDC |
|
| 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. |
|
| FULL_SYN |
Retinoblastoma Syndrome Familial Retinoblastoma Hereditary Retinoblastoma |
|
| label |
Hereditary Retinoblastoma |
|
| Legacy Concept Name |
Hereditary_Retinoblastoma_RB1 |
|
| Neoplastic_Status |
Malignant |
|
| Preferred_Name |
Hereditary Retinoblastoma |
|
| prefixIRI |
Thesaurus:C8495 |
|
| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Neoplastic Process |
|
| UMLS_CUI |
C0751483 |
|
| subClassOf |