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CHARGE syndrome

^ http://www.orpha.net/ORDO/Orphanet_138


CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

Synonyms: CHARGE association, Hall-Hittner syndrome, Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome

Term info

database cross reference
  • MeSH:D058747 (E (exact mapping (the terms and the concepts are equivalent)))
  • MedDRA:10064063 (E (exact mapping (the terms and the concepts are equivalent)))
  • UMLS:C0265354 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q87.8 (Attributed)
  • OMIM:214800 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q87.8 (NTBT (narrower term maps to a broader term))
hasDbXref

OMIM:214800, MedDRA:10064063, UMLS:C0265354, ICD-10:Q87.8, MeSH:D058747

notation

ORPHA:138