Klinefelter syndrome

ICD-11 code : LD50.3;

Preferred Label : Klinefelter syndrome;

ICD-11 definition : Klinefelter syndrome defines a group of chromosomal disorders in which there is at least one extra X chromosome compared with the normal 46,XY male karyotype. The effects on physical features and on physical and cognitive development increase with the number of extra X's, and each extra X is associated with an intelligence quotient (IQ) decrease of approximately 15-16 points, with language most affected, particularly expressive language skills.;

ICD-11 synonym : Klinefelter syndrome, unspecified; Klinefelter syndrome in males;

ICD-11 "other" category code : LD50.3Y;

Details

Origin ID

1937385304;

UMLS CUI

C0022735;

Automatic exact mappings (from CISMeF team)
- klinefelter syndrome [EMDN type]
Currated CISMeF NLP mapping
- KLINEFELTER'S SYNDROME [WHO-ART Included Term]
- Klinefelter Syndrome [NCIt concept]
- Klinefelter syndrome [PASCAL descriptor]
- Klinefelter syndrome [DO Concept]
- 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, XXY (disorder) [SNOMED CT concept]
- klinefelter syndrome [SNOMED Notion]
- klinefelter syndrome [MeSH concept]
- klinefelter syndrome [MeSH Descriptor]
- klinefelter syndrome [medical devices type]
- klinefelter's syndrome [MedlinePlus Topic]
ICD-10 Mapping
- Klinefelter syndrome, unspecified [ICD-10 Sub-category]
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 [ACR pathology]
- Klinefelter syndrome [DO Concept]
- Klinefelter syndrome [Disease (Nov.)]
- Klinefelter syndrome [ORDO Disease]
- Klinefelter syndrome [PASCAL descriptor]
- 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]
- XXY syndrome [MedDRA LLT]
- klinefelter syndrome [MeSH Descriptor]
- klinefelter syndrome [MeSH concept]
- klinefelter syndrome [SNOMED Notion]
- klinefelter's syndrome [MedlinePlus Topic]
Validated automatic mappings to NTBT
- congenital anomaly nos/multiple [ICPC-2 Rubric]

Keyword's position in hierarchy(ies) :

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