loading...| Preferred Name |
Klinefelter Syndrome |
|
| Synonyms |
XXY Trisomy |
|
| 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 |
XXY Trisomy Syndromes, XXY Syndromes, Klinefelter Syndrome, Klinefelter's Syndrome, XXY Xxyy Syndromes Klinefelter's Syndrome Xxyy Syndrome XXY Syndromes XXY Trisomies Klinefelter Syndromes, Variants XXXY Males Syndrome, Xxyy 49,XXXXY Syndrome XXY Syndrome Syndrome, Variants Klinefelter Trisomy, XXY Klinefelter Syndrome, Variants 48,XXYY Syndrome Klinefelters Syndrome Klinefelter Syndromes Syndromes, Xxyy Syndromes, Variants Klinefelter Trisomies, XXY Syndrome, Klinefelter XXXY Male |
|
| 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 C2936740 C2936741 C0265499 C0543754 C2930823 |
|
| 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/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| MDA |
19990101 |
|
| MMR |
20210630 |
|
| MN |
C12.800.316.795.500 C12.200.706.316.795.500 C16.320.180.830.835.500 C19.391.482.629 C19.391.119.795.500 C16.131.939.316.795.500 C16.131.260.830.835.500 C12.050.351.875.253.795.500 |
|
| notation |
D007713 |
|
| prefLabel |
Klinefelter Syndrome |
|
| TERMUI |
T769940 T840797 T769939 T782689 T769941 T023149 T769942 T845000 T432071 |
|
| TH |
NLM (2002) NLM (1966) NLM (2012) GHR (2014) NLM (2014) NLM (2011) ORD (2010) |
|
| tui |
T049 T047 T019 |
|
| subClassOf |