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 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.;

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.;

Codes from synonyms : CDR0000482350; CDR0000559084;

Détails

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]
- 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]

Position du mot-clé dans l'(les) arborescence(s) :

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