| CHARGE-associatie (aandoening) | | CHARGE-associatie | | syndroom van coloboom, hartmalformatie, atresie van choana, groeiachterstand, genitale hypoplasie en ooraandoening
syndroom van Hall-Hittner
Hall-Hittner-syndroom
CHARGE-syndroom
syndroom van coloboom, hartafwijking, atresie van choane, groei- en ontwikkelingsachterstand, genitale afwijkingen en oorafwijking
syndroom van coloboom, hartziekte, choanenatresie, groeiachterstand, genitale hypoplasie en oorafwijking
| | CHARGE-syndroom | | Combinatie van afwijkingen aan ogen, oren, neus, hart en geslachtsorganen en een verstandelijke achterstand. | | CHARGE syndrome | | Coloboma, congenital heart disease, choanal atresia, growth retardation, genital hypoplasia, ear and hearing anomaly syndrome
Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association
Hall Hittner syndrome
CHARGE association
CHARGE (coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies) syndrome
Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome
| | A multiple congenital anomaly syndrome with characteristics of variable combination of multiple anomalies, mainly coloboma; choanal atresia/stenosis; cranial nerve dysfunction; characteristic ear anomalies (known as the major 4 C's). The syndrome shows a variable clinical picture, even within a family, depending on the associated anomalies. In most cases, CHARGE syndrome is due to heterozygous mutations in CHD7 (8q12.2) encoding the chromodomain helicase DNA-binding protein. CHARGE syndrome is either sporadic or shows an autosomal dominant transmission. There is a 1-2% risk of gonadal mosaicism. |
| | Id | 47535005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 138 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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