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Orphanet Rare Disease Ontology
| Preferred Name | Chromophobe renal cell carcinoma | |
| Synonyms |
Chromophobe renal cell adenocarcinoma |
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| Definitions |
Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg Dubé syndrome, have been described. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_319303 |
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| alternative_term |
Chromophobe renal cell adenocarcinoma
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| definition |
Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg Dubé syndrome, have been described.
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319303 |
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| has_age_of_onset |
Adult Elderly
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| hasDbXref |
MedDRA:10080544 UMLS:C1266042 ICD-10:C64
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| label |
Chromophobe renal cell carcinoma
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| notation |
ORPHA:319303
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_319303
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| prefLabel |
Chromophobe renal cell carcinoma
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| present_in |
Europe AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000
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