| syndroom van brachydactylie en distaal symfalangisme (aandoening) | | syndroom van brachydactylie en distaal symfalangisme | | syndroom van Sillence
| | Brachydactyly and distal symphalangism syndrome | | Sillence syndrome
| | Syndrome that resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic. The syndrome has been described in one family with five affected individuals from three successive generations. Transmission appears to be autosomal dominant. |
| | Id | 732956000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q74.8 | | Term | Overige gespecificeerde congenitale misvormingen van extremiteit(en) |
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| SNOMED CT to Orphanet simple map | 3168 |
| SNOMED CT to ICD-10 extended map | | Target | Q74.8 | | Rule | TRUE | | Advice | ALWAYS Q74.8 | 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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