CHARGE syndrome

Preferred Label : CHARGE syndrome;

ICD-11 definition : CHARGE syndrome is defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). Other features include dysmorphic features, rhombencephalic dysfunction, hypoplasia of the semicircular canals and arhinencephaly..;

ICD-11 synonym : Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness; CHARGE association; Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies;

Details

Origin ID

52086532;

Currated CISMeF NLP mapping
- CHARGE Syndrome [NCIt concept]
- CHARGE syndrome [MeSH Descriptor]
- CHARGE syndrome [MeSH concept]
- CHARGE syndrome [ORDO Disease]
- CHARGE syndrome [MedDRA Preferred Term]
- CHARGE syndrome [DO Concept]
- CHARGE syndrome [PASCAL descriptor]
- 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]

Keyword's position in hierarchy(ies) :

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