loading...| Preferred Name |
Hypospadias |
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| Synonyms |
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| Definitions |
A congenital abnormality in which the external urethral orifice is on the underside of the penis. In a minority of cases it is associated with other genitourinary abnormalities. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C40341 |
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| ALT_DEFINITION |
Urethra opening on the underside of the penis or on the perineum. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.) A birth defect in which the opening of the urethra (the tube through which urine leaves the body) is not in its normal place. In males with hypospadias, the urethra opens on the underside of the penis or between the anus and the scrotum. In females with hypospadias, it opens into the vagina. Hypospadias is much more common in males than in females, and can be corrected by surgery. Children with hypospadias have an increased risk of developing Wilms tumor (a type of kidney cancer). A congenital condition in which the urethra fails to develop properly, and the opening of the urethra is located on the ventrum of the penis, scrotum, or perineum. |
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| code |
C40341 |
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| Contributing_Source |
CDISC GDC NICHD |
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| definition |
A congenital abnormality in which the external urethral orifice is on the underside of the penis. In a minority of cases it is associated with other genitourinary abnormalities. |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C77526 http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C124310 http://purl.obolibrary.org/obo/NCIT_C177537 http://purl.obolibrary.org/obo/NCIT_C123272 http://purl.obolibrary.org/obo/NCIT_C157711 |
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| Is_Value_For_GDC_Property | ||
| label |
Hypospadias |
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| Legacy Concept Name |
Hypospadias |
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| Maps_To |
Hypospadias |
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| Preferred_Name |
Hypospadias |
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| prefixIRI |
NCIT:C40341 |
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| prefLabel |
Hypospadias |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C4231490 |
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| subClassOf |
http://purl.obolibrary.org/obo/NCIT_C27618 |