| syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) | | syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa | | Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome | | This syndrome has characteristics of severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance. |
| | Id | 722108000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E34.3 | | Term | Kleine gestalte, niet elders geclassificeerd |
| Target | H90.5 | | Term | Gehoorverlies door perceptiestoornis, niet gespecificeerd |
| Target | H35.5 | | Term | Hereditaire retinadystrofie |
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| SNOMED CT to Orphanet simple map | 2653 |
| SNOMED CT to ICD-10 extended map | | Target | E34.3 | | Rule | TRUE | | Advice | ALWAYS E34.3 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | H90.5 | | Rule | TRUE | | Advice | ALWAYS H90.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | H35.5 | | Rule | TRUE | | Advice | ALWAYS H35.5 | 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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