47,XXX Syndrome

Preferred Label : 47,XXX Syndrome;

NCIt related terms : Triple X Syndrome; 47,XXX; Trisomy X;

NCIt definition : A condition caused by the presence of an extra X chromosome resulting in 47,XXX karyotype in an individual with female phenotype. The condition is characterized by tall stature, increased risk of learning disabilities, and delayed development of speech and language.;

Details

Origin ID

C129718;

UMLS CUI

C0221033;

Currated CISMeF NLP mapping
- Karyotype 47, XXX [ICD-10 Sub-category]
- Karyotype 47,XXX [ICD-11 Subcategory]
- Karyotype 47,XXX [ICD-10 Sub-category (who)]
- Triple X syndrome [MeSH concept]
- Trisomy X syndrome [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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Karyotype 47, XXX [ICD-10 Sub-category]
- Karyotype 47,XXX [ICD-11 Subcategory]
- Triple X syndrome [MeSH concept]
- Trisomy X syndrome [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]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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