| syndroom van gebrekkige ontwikkeling, doofheid en dystonie (aandoening) | | syndroom van gebrekkige ontwikkeling, doofheid en dystonie | | syndroom van misvormingen, doofheid en dystonie
syndroom van malformaties, doofheid en dystonie
| | Developmental malformation, deafness, dystonia syndrome | | This syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. It has been described in two monozygotic twins. The syndrome is caused by a missense point mutation in the gene coding for beta-actin, a nonmuscle actin isoform. Mutations in nonmuscle actin isoforms may be associated with developmental anomalies and neurological disorders such as dystonia. |
| | Id | 721092005 | | Status | Primitive |
| DHD Diagnosethesaurus-referentieset |
| referentieset met complexe door RIVM geautoriseerde nationale 'mapping' naar ICD-10 voor diagnosethesaurus | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| referentieset met complexe 'mapping' naar ICD-10 | | 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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