| syndroom van spastische tetraplegie, retinitis pigmentosa en verstandelijke beperking (aandoening) | | syndroom van spastische tetraplegie, retinitis pigmentosa en verstandelijke beperking | | syndroom van spastische tetraplegie, retinitis pigmentosa en mentale retardatie
syndroom van spastische tetraplegie, retinitis pigmentosa en verstandelijke handicap
| | Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome | | Spastic quadriplegia, retinitis pigmentosa, intellectual disability syndrome
| | A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976. |
| | Id | 723621000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G82.4 | | Term | Hypertone tetraplegie |
| Target | H35.5 | | Term | Hereditaire retinadystrofie |
| Target | F79.9 | | Term | Niet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen |
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| SNOMED CT to Orphanet simple map | 3011 |
| SNOMED CT to ICD-10 extended map | | Target | G82.4 | | Rule | TRUE | | Advice | ALWAYS G82.4 | 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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