Preferred Label : Hypospadias;
NCIt 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.;
Alternative definition : CDISC: 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.); NCI-GLOSS: 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).; NICHD: 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.;
Codes from synonyms : CDR0000482354;
Origin ID : C40341;
UMLS CUI : C0848558;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Has associated anatomic sites
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
- disease_has_associated_gene
- disease_has_primary_anatomic_site
- may_be_associated_disease_of_disease
