Denys-Drash Syndrome

Preferred Label : Denys-Drash Syndrome;

NCIt synonyms : Denys Drash Syndrome; DDS;

NCIt related terms : Nephrotic Syndrome Type 4;

NCIt definition : A rare congenital syndrome caused by mutations in the WT1 gene. It is characterized by the presence of congenital nephropathy (diffuse mesangial sclerosis), Wilms tumor, and intersex disorders.;

Alternative definition : NCI-GLOSS: A rare disorder that causes kidney failure before age 3, abnormal development of the sexual organs, and, in most cases, Wilms tumor (a type of kidney cancer). Children with Denys-Drash syndrome are also at high risk of some other types of cancer.; NICHD: A Wilms tumor 1 gene syndrome caused by various point mutation(s) affecting the zinc finger(s) of the Wilms tumor protein. This syndrome is characterized by congenital nephropathy (diffuse mesangial sclerosis), gonadal dysgenesis resulting in atypical genital and reproductive tract development in male infants, and high risk for development of Wilms tumor, an embryonal neoplasm defined by the presence of epithelial, mesenchymal, and blastema components.;

Codes from synonyms : CDR0000440104; CDR0000440105;

Details

Origin ID

C84668;

UMLS CUI

C0950121;

Automatic exact mappings (from CISMeF team)
- Denys-Drash syndrome [ICD-11 More detail]
- nephrotic syndrome type 4 [DO Concept]
Currated CISMeF NLP mapping
- Denys Drash syndrome [Disease (Nov.)]
- Denys-Drash syndrome [MedDRA Preferred Term]
- Denys-Drash syndrome [DO Concept]
- Denys-Drash syndrome [MeSH concept]
- Denys-Drash syndrome [ORDO Disease]
- Denys-drash syndrome [OMIM Phenotype]
- Drash syndrome (disorder) [SNOMED CT concept]
- denys-drash syndrome [MeSH Descriptor]
DO Cross reference
- Denys-Drash syndrome [DO Concept]
False automatic mappings
- Dapsone [LOINC component]
- Dapsone [ICD-11 Extension code]
- Dapsone (substance) [SNOMED CT concept]
- Death diagnosis (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Mohr-tranebjaerg syndrome [OMIM Phenotype]
- Product containing dapsone (medicinal product) [SNOMED CT concept]
See also inter- (CISMeF)
- Nephrotic syndrome, type 4 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Denys Drash syndrome [Disease (Nov.)]
- Denys-Drash syndrome [ORDO Disease]
- Denys-Drash syndrome [MedDRA Preferred Term]
- Denys-Drash syndrome [DO Concept]
- Denys-Drash syndrome [MeSH concept]
- Denys-drash syndrome [OMIM Phenotype]
- Drash syndrome (disorder) [SNOMED CT concept]
- denys-drash 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]
- Pediatric Endocrinology Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 11 [NCIt concept]
disease_mapped_to_gene
- WT1 Gene [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) :

Main resources

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