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Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/MESH/D007713
http://purl.bioontology.org/ontology/MESH/D007713
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|---|---|
| Preferred Name | Klinefelter 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.).
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| Synonyms |
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
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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.). |
|---|---|
| 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
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| prefLabel |
Klinefelter Syndrome
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| TH |
NLM (2002)
NLM (1966)
NLM (2012)
GHR (2014)
NLM (2014)
NLM (2011)
ORD (2010)
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| notation |
D007713
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| DX |
19660101
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| 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
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| MMR |
20210630
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| 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
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| subClassOf | |
| Semantic type UMLS property | |
| DC |
1
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| MDA |
19990101
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| type | |
| tui |
T049
T047
T019
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| cui |
C0022735
C2936740
C2936741
C0265499
C0543754
C2930823
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| 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
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| Inverse of AQ |
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| TERMUI |
T769940
T840797
T769939
T782689
T769941
T023149
T769942
T845000
T432071
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