Karyotype 47,XXX

ICD-11 code : LD50.1;

Preferred Label : Karyotype 47,XXX;

ICD-11 definition : Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). Most individuals are only mildly affected or asymptomatic, the most common physical features including tall stature, epicanthal folds, hypotonia and clinodactyly, with seizures, renal and genitourinary abnormalities, and premature ovarian failure being also associated findings.;

ICD-11 synonym : xxx syndrome; trisomy x syndrome; triple x syndrome; triple x; triple X female; female triple x syndrome;

Details

Origin ID

423644907;

UMLS CUI

C0221033;

Currated CISMeF NLP mapping
- 47,XXX Syndrome [NCIt concept]
- Four X syndrome (disorder) [SNOMED CT concept]
- Karyotype 47, XXX [ICD-10 Sub-category]
- Karyotype 47,XXX [ICD-10 Sub-category (who)]
- Triple X syndrome [MeSH concept]
- Trisomy X [ORDO Disease]
- Trisomy X [NCIt concept]
- Trisomy X syndrome (disorder) [SNOMED CT concept]
- XXX syndrome [MedDRA Preferred Term]
- four x syndrome [SNOMED Notion]
- triple X syndrome [MeSH Supplementary Concept]
- trisomy x syndrome [SNOMED Notion]
ICD-10 Mapping
- Karyotype 47, XXX [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 47,XXX Syndrome [NCIt concept]
- Karyotype 47, XXX [ICD-10 Sub-category]
- Triple X syndrome [MeSH concept]
- Trisomy X [NCIt concept]
- Trisomy X [ORDO Disease]
- Trisomy X syndrome (disorder) [SNOMED CT concept]
- XXX syndrome [MedDRA Preferred Term]
- triple X syndrome [MeSH Supplementary Concept]
- trisomy x syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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