Preferred Name

Hypospadias

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C40341

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 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.

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).

code

C40341

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C124310

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

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#C123272

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

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

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

Contributing_Source

NICHD

CDISC

GDC

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.

FULL_SYN

Hypospadias

HYPOSPADIAS

hypospadias

Is_Value_For_GDC_Property

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17103

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16457

label

Hypospadias

Legacy Concept Name

Hypospadias

Maps_To

Hypospadias

Preferred_Name

Hypospadias

prefixIRI

Thesaurus:C40341

prefLabel

Hypospadias

Semantic_Type

Disease or Syndrome

UMLS_CUI

C4231490

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C103185

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27618

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98885

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http://purl.bioontology.org/ontology/LNC/LA20090-9 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.obolibrary.org/obo/HP_0000047 Human Phenotype Ontology / 人类表型本体 LOOM
http://purl.bioontology.org/ontology/MESH/D007021 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/ICD10/Q54 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU073738 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU036365 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/MONDO_0005345 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/LB53 《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/DOID_10892 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_10892 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q54 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 LOOM
http://www.ebi.ac.uk/efo/EFO_0004209 Experimental Factor Ontology / 实验性因素本体 LOOM