loading...| Preferred Name |
Klinefelter Syndrome |
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| Synonyms |
Klinefelter's Syndrome 47,XXY Syndrome Hypogonadotropic Hypogonadism XXY Syndrome Klinefelter Syndrome Klinefelter syndrome Klinefelter's Syndrome, XXY XXY Syndrome (Klinefelter Syndrome) |
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| Definitions |
A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34752 |
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| ALT_DEFINITION |
A genetic disorder in males caused by having one or more extra X chromosomes. Males with this disorder may have larger than normal breasts, a lack of facial and body hair, a rounded body type, and small testicles. They may learn to speak much later than other children and may have difficulty learning to read and write. Klinefelter syndrome increases the risk of developing extragonadal germ cell tumors and breast cancer. A condition caused by the presence of an extra X chromosome resulting in 47,XXY karyotype in an individual with male phenotype. The condition is characterized in childhood by relative tall stature with disproportionately long limbs, and speech/language developmental problems in some patients. Postpubertal findings include small testes, gynecomastia, and infertility. |
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| code |
C34752 |
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| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177391 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 |
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| Contributing_Source |
Cellosaurus NICHD PCDC |
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| DEFINITION |
A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present. |
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| FULL_SYN |
Klinefelter's Syndrome 47,XXY Syndrome Hypogonadotropic Hypogonadism XXY Syndrome Klinefelter Syndrome Klinefelter syndrome Klinefelter's Syndrome, XXY XXY Syndrome (Klinefelter Syndrome) |
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| Is_PCDC_GCT_Authorized_Value_For_Variable | ||
| label |
Klinefelter Syndrome |
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| Legacy Concept Name |
Klinefelter_s_Syndrome |
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| Preferred_Name |
Klinefelter Syndrome |
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| prefixIRI |
Thesaurus:C34752 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0022735 |
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| subClassOf |