Klinefelter Syndrome

Preferred Label : Klinefelter Syndrome;

NCIt synonyms : Klinefelter's Syndrome; XXY Syndrome (Klinefelter Syndrome); Hypogonadotropic Hypogonadism; XXY Syndrome; Klinefelter s Syndrome;

NCIt related terms : Klinefelter's Syndrome, XXY; 47,XXY Syndrome;

NCIt 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.;

Alternative definition : NCI-GLOSS: 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.; NICHD: 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.;

Codes from synonyms : CDR0000304688;

Details

Origin ID

C34752;

UMLS CUI

C0022735;

Automatic exact mappings (from CISMeF team)
- Gonadotrophin deficiency [MedDRA Preferred Term]
- Gonadotropin deficiency [ICD-11 Subcategory]
- Hypopituitarism [ICD-10 Sub-category]
- congenital anomaly nos/multiple [ICPC-2 Rubric]
- hypogonadism [MeSH Descriptor]
- klinefelter syndrome [EMDN type]
Currated CISMeF NLP mapping
- Hypogonadotrophic hypogonadism [MedDRA LLT]
- Hypogonadotropic hypogonadism [PASCAL descriptor]
- Hypogonadotropic hypogonadism [HPO term]
- Hypogonadotropic hypogonadism (disorder) [SNOMED CT concept]
- KLINEFELTER'S SYNDROME [WHO-ART Included Term]
- Klinefelter syndrome [PASCAL descriptor]
- Klinefelter syndrome [ACR pathology]
- Klinefelter syndrome [DO Concept]
- Klinefelter syndrome [Disease (Nov.)]
- Klinefelter syndrome [ICD-11 Subcategory]
- 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]
- hypogonadotropic hypogonadism [DO Concept]
- hypogonadotropic hypogonadism [Disease (Nov.)]
- hypogonadotropic hypogonadism [MeSH concept]
- hypogonadotropic hypogonadism [SNOMED Notion]
- klinefelter syndrome [medical devices type]
- klinefelter syndrome [MeSH Descriptor]
- klinefelter syndrome [MeSH concept]
- klinefelter syndrome [SNOMED Notion]
- klinefelter's syndrome [MedlinePlus Topic]
DO Cross reference
- Klinefelter syndrome [DO Concept]
See also inter- (CISMeF)
- hypogonadism, isolated hypogonadotropic [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- KLINEFELTER'S SYNDROME [WHO-ART Included Term]
- Klinefelter syndrome [ORDO Disease]
- Klinefelter syndrome [PASCAL descriptor]
- Klinefelter syndrome [DO Concept]
- Klinefelter syndrome [ACR pathology]
- 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 [MeSH concept]
- klinefelter syndrome [MeSH Descriptor]
- 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]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- GCT Authorized Value Terminology [NCIt concept]
- GCT Medical History Table [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_associated_gene
- FGFR1 Gene [NCIt concept]
- FGFR1 wt Allele [NCIt concept]
- GNRHR Gene [NCIt concept]
- GNRHR wt Allele [NCIt concept]
may_be_associated_disease_of_disease
- Malignant Mediastinal Germ Cell Tumor with Associated Hematologic Malignancy [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients