| nagel-patellasyndroom (aandoening) | | nagel-patellasyndroom | | nagel-patellasyndroom | | NPS; erfelijke aandoening met afwijkingen aan de nagels en knieschijven; soms ook aan de ogen en de nieren. | | Nail-patella syndrome | | Nail patella syndrome
Hereditary osteo-onychodysplasia
Onychoosteodysplasia
Turner Kieser syndrome
| | Nail-patella syndrome is a rare hereditary patellar dysostosis with characteristics of nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. |
| | Id | 22199006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.2 | | Term | Congenitale gestoorde-ontwikkelingssyndromen van hoofdzakelijk extremiteiten |
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| SNOMED CT to Orphanet simple map | 2614 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.2 | | Rule | TRUE | | Advice | ALWAYS Q87.2 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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