CHARGE syndrome
http://purl.obolibrary.org/obo/MONDO_0008965
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). [ Orphanet:138 ]
Term info
- ICD9:759.89 (MONDO:relatedTo)
- SCTID:47535005 (MONDO:equivalentTo)
- MESH:D058747 (Orphanet:138/e)
- GARD:0000029 (MONDO:equivalentTo)
- DOID:0050834 (MONDO:equivalentTo)
- UMLS:C0265354 (Orphanet:138/e)
- OMIM:214800 (Orphanet:138/e)
- Orphanet:138 (OMIM:214800)
- MedDRA:10064063 (Orphanet:138/e)
- NCIT:C75100 (MONDO:equivalentTo)
gard_rare, ordo_malformation_syndrome
http://identifiers.org/meddra/10064063
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).
http://purl.obolibrary.org/obo/Orphanet_138, http://purl.obolibrary.org/obo/DOID_0050834, http://identifiers.org/snomedct/47535005, http://linkedlifedata.com/resource/umls/id/C0265354, http://purl.obolibrary.org/obo/NCIT_C75100, https://omim.org/entry/214800, http://identifiers.org/mesh/D058747
http://purl.obolibrary.org/obo/MONDO_0015501
Hall-Hittner syndrome, CHARGE association, coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association, coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association, CHARGE syndrome, coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies, coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies
MONDO:0008965