| syndroom van coloboom, congenitale hartafwijking, ichtyosiforme dermatose, verstandelijke beperking en malformatie van oor (aandoening) | | syndroom van coloboom, congenitale hartafwijking, ichtyosiforme dermatose, verstandelijke beperking en malformatie van oor | | syndroom van coloboom, congenitale hartafwijking, ichtyosiforme dermatose, mentale retardatie en malformatie van oor
neuro-ectodermaal syndroom Zunich-type
syndroom van Zunich-Kaye
syndroom van coloboom, congenitale hartafwijking, ichtyosiforme dermatose, verstandelijke handicap en malformatie van oor
CHIME-syndroom
| | Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | | Neuroectodermal dysplasia CHIME type
Zunich Kaye syndrome
CHIME syndrome
CHIME (coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, ear anomaly) syndrome
| | A rare ectodermal dysplasia syndrome to date described in 8 cases. The syndrome has characteristics of early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma, conductive hearing loss, seizures, intellectual disability and characteristic facial features. Ears are low-set with thick over-folded helices. Teeth are widely spaced and square in shape. Less constant findings are cleft palate or a less severe equivalent, cardiac defects, pectus excavatum and supernumerary nipples. Caused by mutations in the glycosylphosphatidylinositol gene PIGL located to 17p12-p11.2. Transmission is autosomal recessive. |
| | Id | 720639008 | | 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 | 3474 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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