| syndroom van albinisme met doofheid (aandoening) | | syndroom van albinisme met doofheid | | albinisme-doofheid-syndroom
| | Albinism with deafness syndrome | | A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. |
| | Id | 722285005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 998 |
| SNOMED CT to ICD-10 extended map | | Target | H90.5 | | Rule | TRUE | | Advice | ALWAYS H90.5 | 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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