| syndroom van albinisme met doofheid (aandoening) | | syndroom van albinisme met doofheid | | albinisme-doofheid-syndroom
| | Albinism with deafness syndrome | | Syndrome with characteristics of congenital nerve deafness and piebaldness without ocular albinism. 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 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | E70.3 | | Rule | IFA 248153007 | Male (finding) | | | Advice | IF MALE CHOOSE E70.3 | MAP IS CONTEXT DEPENDENT FOR GENDER | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | | | Rule | OTHERWISE TRUE | | Advice | MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA | | Correlation | SNOMED CT source code to target map code correlation not specified |
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