Medical Subject Headings

Last uploaded: August 27, 2019
Preferred Name

Klinefelter Syndrome

Synonyms

48,XXYY Syndrome

Definitions

A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).

ID

http://purl.bioontology.org/ontology/MESH/D007713

altLabel

48,XXYY Syndrome

Syndrome, Variants Klinefelter

XXY Syndrome

Klinefelter's Syndrome

49,XXXXY Syndrome

Klinefelter Syndrome, Variants

Xxyy Syndrome

Klinefelter Syndromes, Variants

Klinefelter Syndromes

XXY Syndromes

Syndromes, Variants Klinefelter

Trisomies, XXY

XXY Trisomy

XXXY Male

Trisomy, XXY

Syndrome, XXY

Syndromes, Xxyy

Syndromes, Klinefelter

XXY Trisomies

Xxyy Syndromes

XXXY Males

Syndromes, XXY

Klinefelters Syndrome

Syndrome, Klinefelter

Syndrome, Klinefelter's

Syndrome, Xxyy

AN

index here karyotypes XXXY, XXXXY, XXYY, XXXYY, XX/XXY, XX/YY, XY/XXY, XXY/XXXY, XXY/XXYY, XY/XXY/XXXY if called KLINEFELTER SYNDROME by author but if not so named by author, index under SEX CHROMOSOME DISORDERS

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

cui

C0022735

C2930823

C0265499

C0543754

C2936741

C2936740

DC

1

definition

A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).

DX

19660101

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469

Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D050035

http://purl.bioontology.org/ontology/MESH/D014424

http://purl.bioontology.org/ontology/MESH/D006060

http://purl.bioontology.org/ontology/MESH/D005058

http://purl.bioontology.org/ontology/MESH/D017436

http://purl.bioontology.org/ontology/MESH/D005611

MDA

19990101

MMR

20160628

MN

C19.391.482.629

C12.706.316.795.500

C16.131.260.830.835.500

C16.320.180.830.835.500

C13.351.875.253.795.500

C19.391.119.795.500

C16.131.939.316.795.500

notation

D007713

prefLabel

Klinefelter Syndrome

TERMUI

T769939

T840797

T845000

T769941

T769942

T782689

T769940

T023149

T432071

TH

NLM (2011)

NLM (2002)

NLM (1966)

NLM (2014)

NLM (2012)

ORD (2010)

GHR (2014)

tui

T049

T019

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D007006

http://purl.bioontology.org/ontology/MESH/D058533

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http://purl.bioontology.org/ontology/CSP/1254-8437 CRISP CUI
http://purl.obolibrary.org/obo/MONDO_0006823 MONDO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-02252 SNMI CUI
http://purl.bioontology.org/ontology/SNMI/D4-02252 SNMI LOOM
http://www.co-ode.org/ontologies/galen#KlinefelterSyndrome GALEN LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.830.835.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.391.119.795.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/OGMD_0000068 OGMD LOOM
http://www.limics.org/hrdo/rdfns#pat_id_362 HRDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10048230 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/405769009 SCTSPA CUI
http://purl.bioontology.org/ontology/SCTSPA/403760006 SCTSPA CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.830.835.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D4-02278 SNMI CUI
http://purl.bioontology.org/ontology/ICD10/Q98.4 ICD10 CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C13.351.875.253.795.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q98.4 ICD10CM CUI
http://purl.bioontology.org/ontology/MSHFRE/D007713 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/22053006 SCTSPA CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D007713 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D007713 GSSO LOOM
http://purl.bioontology.org/ontology/MESH/D007713 GSSO SAME_URI
http://purl.bioontology.org/ontology/MESH/D007713 GSSO LOOM
http://purl.bioontology.org/ontology/MESH/D007713 GSSO SAME_URI
http://purl.bioontology.org/ontology/MESH/D007713 GSSO LOOM
http://purl.bioontology.org/ontology/MESH/D007713 GSSO SAME_URI
http://purl.bioontology.org/ontology/MESH/D007713 GSSO LOOM
http://purl.bioontology.org/ontology/MESH/D007713 GSSO SAME_URI
http://purl.bioontology.org/ontology/MESH/D007713 GSSO LOOM
http://purl.bioontology.org/ontology/MESH/D007713 GSSO SAME_URI
http://purl.bioontology.org/ontology/MESH/D007713 GSSO LOOM
http://purl.bioontology.org/ontology/MESH/D007713 GSSO SAME_URI
http://purl.bioontology.org/ontology/MESH/D007713 GSSO LOOM
http://purl.bioontology.org/ontology/MESH/D007713 GSSO SAME_URI
http://purl.bioontology.org/ontology/MESH/D007713 GSSO LOOM
http://purl.bioontology.org/ontology/MESH/D007713 GSSO SAME_URI
http://purl.bioontology.org/ontology/MESH/D007713 GSSO LOOM
http://purl.bioontology.org/ontology/MESH/D007713 GSSO SAME_URI
http://purl.bioontology.org/ontology/MESH/D007713 GSSO LOOM
http://purl.bioontology.org/ontology/MESH/D007713 GSSO SAME_URI
http://purl.bioontology.org/ontology/MESH/D007713 GSSO LOOM
http://purl.bioontology.org/ontology/MESH/D007713 GSSO SAME_URI
http://purl.bioontology.org/ontology/MDRFRE/10048229 MDRFRE CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.391.482.629 RH-MESH LOOM
http://purl.bioontology.org/ontology/SCTSPA/38847009 SCTSPA CUI
http://www.projecthalo.com/aura#Klinefelter-Syndrome AURA LOOM
http://purl.bioontology.org/ontology/WHOFRE/0859 WHOFRE CUI
http://www.limics.fr/ontologies/ontolurgences#SyndromeDeKlinefelter ONTOLURGENCES LOOM
http://purl.bioontology.org/ontology/ICD10/Q98.0 ICD10 CUI
http://www.owl-ontologies.com/unnamed.owl#RID14624 DERMLEX LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/405769009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/403760006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/MTHU032889 OMIM CUI
http://purl.bioontology.org/ontology/WHO/0859 WHO-ART CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34752 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34752 NCIT LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/22053006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/22053006 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q98.0 ICD10CM CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Klinefelter_s_Syndrome CSEO LOOM
http://purl.bioontology.org/ontology/ICD9CM/758.7 ICD9CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10023463 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10048229 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/PJ7.. RCD CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001759 NDFRT CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0022735 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/ICPC2P/A90007 ICPC2P CUI
http://purl.bioontology.org/ontology/ICPC2P/A90007 ICPC2P LOOM
http://purl.bioontology.org/ontology/MEDDRA/10023463 MEDDRA CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.939.316.795.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/MDRFRE/10048230 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/38847009 SNOMEDCT CUI
http://purl.jp/bio/4/id/200906080970637966 IOBC LOOM
http://www.gamuts.net/entity#Klinefelter_syndrome GAMUTS LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU028322 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU028322 OMIM LOOM
http://purl.bioontology.org/ontology/RCD/PJ70. RCD CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C12.706.316.795.500 RH-MESH LOOM