syndroom van hydrocefalie, blauwe sclera en nefropathie (aandoening) | | syndroom van hydrocefalie, blauwe sclera en nefropathie | | syndroom van Daentl-Townsend-Siegel syndroom van waterhoofd, blauwe harde oogrok en nierziekte syndroom van hydrocephalus, blauwe sclera en nephropathie Daentl-Townsend-Siegel-syndroom
| | Hydrocephalus, blue sclera, nephropathy syndrome | | Daentl Townsend Siegel syndrome
| | A rare, genetic, renal malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. |
| Id | 773280009 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q87.8 | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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SNOMED CT to Orphanet simple map | 2186 |
SNOMED CT to ICD-10 extended map | 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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