Costello Syndrome

Preferred Label : Costello Syndrome;

NCIt definition : A genetic syndrome caused by mutations in the HRAS gene. It is characterized by developmental delay, mental retardation, loose skin folds, cardiomyopathy, tachycardia, and structural heart defects. Patients are at an increased risk of developing benign or malignant neoplasms.;

Alternative definition : NICHD: An autosomal dominant syndrome caused by mutations in the HRAS gene, encoding GTPase HRas, a signaling molecule involved in control of cell growth and division. The condition is characterized by coarse facial features, loose skin folds, developmental delays, hypotonia, multiple cardiac problems (structural heart anomalies, hypertrophic cardiomyopathy), short stature, hyperinsulinism, and an increased risk for development of neoplasia.;

Détails

Origin ID

C84652;

UMLS CUI

C0587248;

Automatic exact mappings (from CISMeF team)
- Costello syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Costello syndrome [PASCAL descriptor]
- Costello syndrome [DO Concept]
- Costello syndrome [Disease (Nov.)]
- Costello syndrome [MedDRA Preferred Term]
- Costello syndrome [OMIM Phenotype]
- Costello syndrome [ORDO Disease]
- Costello syndrome (disorder) [SNOMED CT concept]
- costello syndrome [MeSH Descriptor]
- costello syndrome [MeSH concept]
DO Cross reference
- Costello syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Costello syndrome [ORDO Disease]
- Costello syndrome [OMIM Phenotype]
- Costello syndrome [PASCAL descriptor]
- Costello syndrome [DO Concept]
- Costello syndrome [Disease (Nov.)]
- Costello syndrome [MedDRA Preferred Term]
- Costello syndrome (disorder) [SNOMED CT concept]
- costello syndrome [MeSH concept]
- costello syndrome [MeSH Descriptor]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- HL Authorized Value Terminology [NCIt concept]
- HL Medical History Table [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- HRAS Gene [NCIt concept]
disease_may_have_associated_disease
- Rhabdomyosarcoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- HRAS Gene [NCIt concept]
- HRAS wt Allele [NCIt concept]
related_to_genetic_biomarker
- HRAS Gene [NCIt concept]

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

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