| syndroom van doofheid, glazuurhypoplasie en nageldefect (aandoening) | | syndroom van doofheid, glazuurhypoplasie en nageldefect | | doofheid-glazuurhypoplasie-nageldefect-syndroom
syndroom van Heimler
Heimler-syndroom
| | Deafness, enamel hypoplasia, nail defect syndrome | | Heimler syndrome
| | A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. |
| | Id | 721085000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | H90.5 | | Term | Gehoorverlies door perceptiestoornis, niet gespecificeerd |
| Target | K00.4 | | Term | Stoornissen van tandontwikkeling |
| Target | Q84.6 | | Term | Overige congenitale misvormingen van nagels |
|
| SNOMED CT to Orphanet simple map | 3220 |
| SNOMED CT to ICD-10 extended map | | Target | Q82.4 | | Rule | TRUE | | Advice | ALWAYS Q82.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
