WAGR syndrome - CISMeF

Preferred Label : WAGR syndrome;

ICD-11 definition : WAGR is an acronym for Wilms tumor-Aniridia-Genitourinary anomalies-mental Retardation syndrome. Wilms tumor or nephroblastoma is the most frequent renal tumor in children, accounting for 6 to 8% of pediatric cancers. About 1% of these tumors are associated with aniridia.;

ICD-11 synonym : 11p13 microdeletion syndrome; WAGR - [Wilms tumour - aniridia - genitourinary anomalies - intellectual deficit] syndrome; Monosomy 11p13; 11p13 deletion;

ICD-11 acronym : WAGR;

Details

Origin ID

1858307812;

Automatic exact mappings (from CISMeF team)
- PAX6 wt Allele [NCIt concept]
- WT1 transcription factor [ORDO Gene]
- WT1 wt Allele [NCIt concept]
- chromosome 11p, partial deletion [MeSH Supplementary Concept]
- deletion 11p13 [MeSH concept]
- paired box 6 [ORDO Gene]
Currated CISMeF NLP mapping
- Chromosome 11p13 deletion syndrome (disorder) [SNOMED CT concept]
- WAGR Syndrome [NCIt concept]
- WAGR syndrome [ORDO Disease]
- WAGR syndrome [MeSH concept]
- WAGR syndrome [DO Concept]
- WAGR syndrome [PASCAL descriptor]
- WAGR syndrome [Disease (Nov.)]
- Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome [OMIM Phenotype]
- wagr syndrome [MeSH Descriptor]

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