WAGR Syndrome - CISMeF

Preferred Label : WAGR Syndrome;

NCIt related terms : 11p Partial Monosomy Syndrome; Wilms Tumor, Aniridia, Genitourinary Anomalies and Developmental Delay Syndrome; Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome;

NCIt definition : A very rare congenital condition involving the complex of Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation (WAGR) syndrome involves deletions of several adjacent genes in chromosome region 11p13. Two or more of the four conditions must be present for an individual to be diagnosed with WAGR Syndrome. The clinical picture varies, depending upon the combination of abnormalities.;

Alternative definition : NCI-GLOSS: A rare, genetic disorder that is present at birth and has two or more of the following symptoms: Wilms tumor (a type of kidney cancer); little or no iris (the colored part of the eye); defects in the sexual organs and urinary tract (the organs that make urine and pass it from the body); and below average mental ability. This syndrome occurs when part of chromosome 11 is missing.; NICHD: A syndrome characterized by a predisposition for Wilms tumor, aniridia, genitourinary anomalies, and developmental delay. This is a contiguous gene syndrome due to deletion in the vicinity of chromosome 11p13 in a region containing the WT1 and PAX6 genes.;

Codes from synonyms : CDR0000482350; CDR0000559084;

Details

Origin ID

C3718;

UMLS CUI

C0206115;

Automatic exact mappings (from CISMeF team)
- 11p partial monosomy syndrome [SNOMED Notion]
- 11p partial monosomy syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Chromosome 11p13 deletion syndrome (disorder) [SNOMED CT concept]
- WAGR syndrome [PASCAL descriptor]
- WAGR syndrome [DO Concept]
- WAGR syndrome [Disease (Nov.)]
- WAGR syndrome [ICD-11 More detail]
- WAGR syndrome [MeSH concept]
- WAGR syndrome [ORDO Disease]
- Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome [OMIM Phenotype]
- wagr syndrome [MeSH Descriptor]
DO Cross reference
- WAGR syndrome [DO Concept]
Disease may have findings
- Genitourinary Signs and Symptoms [NCIt concept]
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 [ORDO Disease]
- WAGR syndrome [PASCAL descriptor]
- WAGR syndrome [DO Concept]
- WAGR syndrome [Disease (Nov.)]
- WAGR syndrome [MeSH concept]
- Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome [OMIM Phenotype]
- wagr syndrome [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- HL Authorized Value Terminology [NCIt concept]
- HL Medical History Table [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- Inactivating WT1 Gene Mutation [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 11 [NCIt concept]
disease_mapped_to_gene
- WT1 Gene [NCIt concept]
disease_may_have_associated_disease
- Aniridia [NCIt concept]
- Mental Retardation [NCIt concept]
- Wilms Tumor [NCIt concept]
pathogenesis_of_disease_involves_gene
- WT1 Gene [NCIt concept]
- WT1 wt Allele [NCIt concept]
related_to_genetic_biomarker
- WT1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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