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
| | CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. |
| 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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