wagr syndrome - CISMeF

Preferred Label : wagr syndrome;

MeSH definition : A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY.;

MeSH synonym : wagr complex; contiguous gene syndrome, wagr; wilms tumor-aniridia-genitourinary anomalies-mr syndrome; syndrome, wagr; wagr syndromes; Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome; Complex, WAGR; wagr complices; wagr contiguous gene syndrome; Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome; wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome; chromosome 11p13 deletion syndrome; wilms Tumor-Aniridia-Genital Anomalies-Retardation syndrome; 11p partial monosomy syndrome;

CISMeF synonym : complices, wagr; syndromes, wagr; wilms tumor aniridia genitourinary anomalies mr syndrome; Wagr;

Wikipedia link : https://en.wikipedia.org/wiki/Wagr;

Details

Origin ID

D017624;

UMLS CUI

C0206115;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- 11p partial monosomy syndrome [SNOMED Notion]
- 11p partial monosomy syndrome (disorder) [SNOMED CT concept]
- PAX6 wt Allele [NCIt concept]
- WT1 transcription factor [ORDO Gene]
- WT1 wt Allele [NCIt concept]
- paired box 6 [ORDO Gene]
CISMeF manual mappings
- Chromosome 11p13 deletion syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- WAGR Syndrome [NCIt concept]
- WAGR syndrome [PASCAL descriptor]
- WAGR syndrome [DO Concept]
- WAGR syndrome [Disease (Nov.)]
- WAGR syndrome [ICD-11 More detail]
- WAGR syndrome [ORDO Disease]
- Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome [OMIM Phenotype]
DO Cross reference
- WAGR syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- Genetic obesity [ORDO Disease]
- Genetic renal tumor [ORDO Disease]
- Genetic urogenital tract malformation [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Rare disease with glaucoma as a major feature [ORDO Disease]
- Rare renal tumor [ORDO Disease]
- Syndrome with 46,XY disorder of sex development [ORDO Disease]
- Syndromic aniridia [ORDO Disease]
- Syndromic cataract [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
- Syndromic renal or urinary tract malformation [ORDO Disease]
- Syndromic urogenital tract malformation [ORDO Disease]
ORDO relation(s)
- WAGR syndrome [ORDO Disease]
Record concept(s)
- WAGR syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- chromosome 11p deletion syndrome [MeSH Supplementary Concept]
- wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome [MeSH Supplementary Concept]
See also
- genes, wilms tumor [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 11p partial monosomy syndrome [SNOMED Notion]
- 11p partial monosomy syndrome (disorder) [SNOMED CT concept]
- Chromosome 11p13 deletion syndrome (disorder) [SNOMED CT concept]
- WAGR Syndrome [NCIt concept]
- WAGR syndrome [ORDO Disease]
- WAGR syndrome [DO Concept]
- WAGR syndrome [PASCAL descriptor]
- WAGR syndrome [Disease (Nov.)]
- Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients