| syndroom van retinitis pigmentosa, hypopituïtarisme, nefronoftise en skeletdysplasie (aandoening) | | syndroom van retinitis pigmentosa, hypopituïtarisme, nefronoftise en skeletdysplasie | | RHYNS-syndroom
syndroom van retinitis pigmentosa, hypopituïtarisme, nefroftise en skeletdysplasie
| | RHYNS syndrome | | Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome
RHYNS (retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia) syndrome
| | Syndrome with the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. So far, it has been described in four males. Autosomal recessive transmission is likely but an X-linked mode of inheritance cannot be excluded. |
| | Id | 723999009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | H35.5 | | Term | Hereditaire retinadystrofie |
| Target | E23.0 | | Term | Hypopituïtarisme |
| Target | Q61.5 | | Term | Medullair-cystische nier |
| Target | Q78.9 | | Term | Osteochondrodysplasie, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 140976 |
| SNOMED CT to ICD-10 extended map | | Target | H35.5 | | Rule | TRUE | | Advice | ALWAYS H35.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | E23.0 | | Rule | TRUE | | Advice | ALWAYS E23.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | Q61.5 | | Rule | TRUE | | Advice | ALWAYS Q61.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | Q78.9 | | Rule | TRUE | | Advice | ALWAYS Q78.9 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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