" /> CHARGE syndrome - CISMeF





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;

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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..

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30/07/2025


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