49,XXXXX syndrome - CISMeF

CISMeF

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49,XXXXX syndromeMeSH Supplementary Concept

Preferred Label : 49,XXXXX syndrome;

CISMeF synonym : chromosome X pentasomy;

MeSH synonym : Penta-X syndrome; pentasomy X syndrome; chromosome XXXXX syndrome;

Related MeSH term : Pentasomy X;

Détails

Origin ID

C535319;

UMLS CUI

C0265497;

Currated CISMeF NLP mapping
- Penta X Syndrome [NCIt concept]
- Penta X syndrome (disorder) [SNOMED CT concept]
- Pentasomy X [ORDO Disease]
- penta x syndrome [SNOMED Notion]
MeSH term(s) associated for indexing
- aneuploidy [MeSH Descriptor]
- chromosomes, human, X [MeSH Descriptor]
- sex chromosome aberrations [MeSH Descriptor]
- sex chromosome disorders [MeSH Descriptor]
ORDO relation(s)
- Pentasomy X [ORDO Disease]
Record concept(s)
- 49,XXXXX syndrome [MeSH concept]
- chromosome X pentasomy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Penta X Syndrome [NCIt concept]
- Penta X syndrome [MedDRA Preferred Term]
- Penta X syndrome (disorder) [SNOMED CT concept]
- Pentasomy X [ORDO Disease]
- XXXXX syndrome [MedDRA LLT]
- penta x syndrome [SNOMED Notion]

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27/07/2025

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