klinefelter syndrome

Preferred Label : klinefelter syndrome;

MeSH 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.).;

MeSH synonym : syndrome, klinefelter's; klinefelter's syndrome; klinefelter syndromes; syndromes, klinefelter; syndrome, klinefelter; klinefelters syndrome; XXY syndrome; syndrome, XXY; syndromes, XXY; XXY syndromes;

CISMeF synonym : Klinefelter; syndrome, 48,XXYY; syndromes, 49,XXXXY;

MeSH hyponym : XXXY males; 48,XXYY Syndrome; klinefelter syndrome, variants; XXY trisomy; 49,XXXXY Syndrome; Klinefelter Syndromes, Variants; Syndrome, Variants Klinefelter; Syndromes, Variants Klinefelter; Xxyy Syndrome; Syndrome, Xxyy; Syndromes, Xxyy; Xxyy Syndromes; Trisomies, XXY; Trisomy, XXY; XXY Trisomies; XXXY Male;

MeSH annotation : 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;

Wikipedia link : https://en.wikipedia.org/wiki/Klinefelter syndrome;

Details

Origin ID

D007713;

UMLS CUI

C0022735;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- 49,XXXXY Syndrome [NCIt concept]
- 49,XXXXY syndrome [ORDO Disease]
- 49,XXXYY syndrome [ORDO Disease]
- 49,XXXYY syndrome (disorder) [SNOMED CT concept]
- 49,XYYYY syndrome [ORDO Disease]
- 49,XYYYY syndrome (disorder) [SNOMED CT concept]
- congenital anomaly nos/multiple [ICPC-2 Rubric]
- klinefelter syndrome [EMDN type]
Currated CISMeF NLP mapping
- 46,XX testicular disorder of sex development [ORDO Disease]
- 48,XXYY syndrome [ORDO Disease]
- KLINEFELTER'S SYNDROME [WHO-ART Included Term]
- Klinefelter Syndrome [NCIt concept]
- Klinefelter syndrome [PASCAL descriptor]
- Klinefelter syndrome [DO Concept]
- Klinefelter syndrome [Disease (Nov.)]
- Klinefelter syndrome [ICD-11 Subcategory]
- Klinefelter syndrome [ACR pathology]
- Klinefelter syndrome [ORDO Disease]
- Klinefelter syndrome (disorder) [SNOMED CT concept]
- Klinefelter syndrome, unspecified [ICD-10 Sub-category]
- Klinefelter's syndrome [ICD-9 code]
- Klinefelter's syndrome [MedDRA Preferred Term]
- Klinefelter's syndrome - male with more than two X chromosomes (disorder) [Inactive SNOMED CT concept]
- Klinefelter's syndrome, XXY (disorder) [SNOMED CT concept]
- Klinefelters syndrome, unspecified [ICD-10 Sub-category (who)]
- XXY syndrome [MedDRA LLT]
- XXYY Syndrome [NCIt concept]
- XXYY syndrome [MedDRA Preferred Term]
- XXYY syndrome (disorder) [SNOMED CT concept]
- klinefelter syndrome [SNOMED Notion]
- klinefelter syndrome [medical devices type]
- klinefelter's syndrome [MedlinePlus Topic]
DO Cross reference
- Klinefelter syndrome [DO Concept]
Manual BTNT mappings - CISMeF
- 48,XXXY syndrome [ORDO Disease]
- 49,XXXXY syndrome [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Male infertility due to gonadal dysgenesis [ORDO Disease]
MedlinePlus topic(s)
- klinefelter's syndrome [MedlinePlus Topic]
ORDO relation(s)
- 48,XXYY syndrome [ORDO Disease]
- Klinefelter syndrome [ORDO Disease]
Record concept(s)
- 48,XXYY Syndrome [MeSH concept]
- 49,XXXXY Syndrome [MeSH concept]
- XXXY males [MeSH concept]
- XXY trisomy [MeSH concept]
- klinefelter syndrome [MeSH concept]
- klinefelter syndrome, variants [MeSH concept]
See also inter- (CISMeF)
- hypogonadotropic hypogonadism [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- KLINEFELTER'S SYNDROME [WHO-ART Included Term]
- Klinefelter Syndrome [NCIt concept]
- Klinefelter syndrome [ORDO Disease]
- Klinefelter syndrome [DO Concept]
- Klinefelter syndrome [ACR pathology]
- Klinefelter syndrome [PASCAL descriptor]
- Klinefelter syndrome [Disease (Nov.)]
- Klinefelter syndrome [ICD-11 Subcategory]
- Klinefelter syndrome (disorder) [SNOMED CT concept]
- Klinefelter syndrome karyotype 47, XXY [ICD-10 Sub-category]
- Klinefelter syndrome, unspecified [ICD-10 Sub-category]
- Klinefelter's syndrome [ICD-9 code]
- Klinefelter's syndrome [MedDRA Preferred Term]
- Klinefelter's syndrome, XXY (disorder) [SNOMED CT concept]
- Klinefelters syndrome, unspecified [ICD-10 Sub-category (who)]
- XXY syndrome [MedDRA LLT]
- klinefelter syndrome [SNOMED Notion]
- klinefelter's syndrome [MedlinePlus Topic]
Validated automatic mappings to BTNT
- Klinefelter syndrome with karyotype 47,XXY, regular [ICD-11 Sub-sub category]

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