CHARGE Syndrome

Preferred Label : CHARGE Syndrome;

NCIt related terms : Coloboma, Heart Defects, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Anomalies Association; Coloboma, Heart Malformation, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Malformations (CHARGE) Association; CHARGE association;

NCIt definition : A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities.;

Alternative definition : NICHD: An autosomal dominant syndrome caused by mutation(s) in the CHD7 gene, encoding chromodomain-helicase-DNA-binding protein 7, and characterized by coloboma, cardiac anomalies, choanal atresia, growth and developmental delay, hypogonadotropic hypogonadism, and ear anomalies.; ACC/AHA: A genetic syndrome characterized by autosomal dominant mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental delay, genital, and ear abnormalities.;

Details

Origin ID

C75100;

UMLS CUI

C0265354;

Currated CISMeF NLP mapping
- CHARGE syndrome [MedDRA Preferred Term]
- CHARGE syndrome [PASCAL descriptor]
- CHARGE syndrome [DO Concept]
- CHARGE syndrome [Disease (Nov.)]
- CHARGE syndrome [ICD-11 More detail]
- CHARGE syndrome [MeSH Descriptor]
- CHARGE syndrome [MeSH concept]
- CHARGE syndrome [ORDO Disease]
- Charge syndrome [OMIM Phenotype]
- Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder) [SNOMED CT concept]
- charge association [SNOMED Notion]
DO Cross reference
- CHARGE syndrome [DO Concept]
False automatic mappings
- Diethylstilbestrol syndrome [ORDO Disease]
- Hyperinsulinism-hyperammonemia syndrome [ORDO Disease]
- LE syndrome [MedDRA LLT]
- Milles' syndrome [MedDRA LLT]
- branchio-oto-renal syndrome [MeSH Descriptor]
- syndrome [MeSH Descriptor]
- syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CHARGE syndrome [MedDRA Preferred Term]
- CHARGE syndrome [ORDO Disease]
- CHARGE syndrome [MeSH concept]
- CHARGE syndrome [MeSH Descriptor]
- CHARGE syndrome [PASCAL descriptor]
- CHARGE syndrome [DO Concept]
- CHARGE syndrome [Disease (Nov.)]
- Charge syndrome [OMIM Phenotype]
- Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder) [SNOMED CT concept]
- charge association [SNOMED Notion]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CHD7 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients