syndroom van schedelhuiddefect en postaxiale polydactylie (aandoening) | | syndroom van schedelhuiddefect en postaxiale polydactylie | | Scalp defect postaxial polydactyly syndrome | | Syndrome with characteristics of congenital scalp defects and postaxial polydactyly type A. It is an extremely rare condition. The syndrome has variable manifestations with one affected person with both congenital scalp defects and postaxial polydactyly type A, 4 people with scalp defects only and 3 people who had postaxial polydactyly only. Transmission is autosomal dominant. |
| Id | 726629006 | 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 |
|
SNOMED CT to Orphanet simple map | 1003 |
SNOMED CT to ICD-10 extended map | Target | Q87.2 | Rule | TRUE | Advice | ALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|