National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Turner Syndrome

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26900

ALT_DEFINITION

A syndrome of defective gonadal development in phenotypic women with a karyotype of sex chromosome monosomy (45,X or 45,XO), associated with the loss of a sex chromosome X or Y. Patients generally are of short stature with undifferentiated (streak) gonads, sexual infantilism (HYPOGONADISM), webbing of the neck, cubitus valgus, elevated GONADOTROPINS (LH and FOLLICLE STIMULATING HORMONE) and decreased estradiol level in blood. Studies of Turner Syndrome and its variants have contributed significantly to the understanding of SEX DIFFERENTIATION.

genetic disease that produces sterile females due to monosomy for X chromosome; the ovaries are rudimentary or missing; other abnormalities include short stature, webbed neck, and a broad chest with widely spaced nipples.

code

C26900

Concept_In_Subset

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

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

Contributing_Source

NICHD

DEFINITION

A gonadal dysgenesis syndrome occurring in phenotypic females, characterized by the absence of a part or all of one of the sex chromosomes. Signs and symptoms include short stature, webbing of neck, low-set ears, hypogonadism, and sterility.

FULL_SYN

Gonadal Dysgenesis

Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2950

label

Turner Syndrome

Legacy_Concept_Name

Turner_s_Syndrome

NICHD_Hierarchy_Term

Turner Syndrome

Preferred_Name

Turner Syndrome

prefixIRI

C26900

prefLabel

Turner Syndrome

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0041408

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27564

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61420

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http://purl.obolibrary.org/obo/DOID_3491 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/D014424 Medical Subject Headings LOOM