| familiair idiopathisch steroïdresistent nefrotisch syndroom (aandoening) | | familiair idiopathisch steroïdresistent nefrotisch syndroom | | familiaal idiopathisch steroïdresistent NS
| | Genetic steroid-resistant nephrotic syndrome | | Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
| | Nephrotic syndrome with often-early onset defined by severe proteinuria with low serum albumin and possible edema. This disease is rare but severe as it usually progresses to end-stage renal failure. Mutations in the NPHS2 gene (chromosome 1q25-q31 and encoding podocine) have been found to be involved in autosomal recessive forms of the disease. Mutations in the podocine gene have also been detected in later-onset forms and in apparently sporadic forms. Mutations in the ACTN4 gene, coding for alpha-actinine 4, have been reported in autosomal dominant forms. Familial forms of idiopathic steroid-resistant nephrotic syndrome do not respond to any treatment with steroids or immunosuppressive drugs and the disease progress to terminal renal failure. |
| | Id | 718141008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | N04.9 | | Term | Nefrotisch syndroom; niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 656 |
| SNOMED CT to ICD-10 extended map | | Target | N04.9 | | Rule | TRUE | | Advice | ALWAYS N04.9 | 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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