| syndroom van nefrotisch syndroom, doofheid en pretibiale epidermolysis bullosa (aandoening) | | syndroom van nefrotisch syndroom, doofheid en pretibiale epidermolysis bullosa | | nefrotisch syndroom met gehoorverlies en pretibiale epidermolysis bullosa
| | Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | | Nephrotic syndrome, hearing loss, pretibial epidermolysis bullosa syndrome
| | A rare genetic renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor. There is evidence this syndrome is caused by mutation in the CD151 gene. |
| | Id | 773647007 | | 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 |
| Target | H90.5 | | Term | Gehoorverlies door perceptiestoornis, niet gespecificeerd |
| Target | Q81.9 | | Term | Epidermolysis bullosa, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 300333 |
| SNOMED CT to ICD-10 extended map | | Target | N07.9 | | Rule | TRUE | | Advice | ALWAYS N07.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | Q81.0 | | Rule | TRUE | | Advice | ALWAYS Q81.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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