| syndroom van perceptief gehoorverlies en hoge myopie (aandoening) | | syndroom van perceptief gehoorverlies en hoge myopie | | syndroom van doofheid en bijziendheid
| | Deafness and myopia syndrome | | High myopia and sensorineural deafness
| | Syndrome with characteristics of moderate to profound hearing loss in both ears and severe nearsightedness (high myopia). The hearing loss may be described as sensorineural or it may be caused by auditory neuropathy. The hearing loss is either present at birth or begins in infancy, before the child learns to speak. This syndrome is caused by mutations in the SLITRK6 gene. The protein produced from this gene is found primarily in the inner ear and the eye. SLITRK6 gene mutations result in an abnormally short SLITRK6 protein that is not anchored properly to the cell membrane meaning the protein is unable to function normally. Impaired SLITRK6 protein function leads to abnormal nerve development in the inner ear and improperly controlled eyeball growth. |
| | Id | 720506002 | | 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 |
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| SNOMED CT to Orphanet simple map | 363396 |
| 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 | H52.1 | | Rule | TRUE | | Advice | ALWAYS H52.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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