| syndroom van camptodactylie, artropathie, coxa vara en pericarditis (aandoening) | | syndroom van camptodactylie, artropathie, coxa vara en pericarditis | | CACP-syndroom
| | Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome | | Arthropathy camptodactyly syndrome
CACP (camptodactyly, arthropathy, coxa-vara, pericarditis) syndrome
CACP syndrome
Jacobs syndrome
Pericarditis, arthropathy, camptodactyly syndrome
| | A rare genetic rheumatologic disease with characteristics of congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis. There is evidence the disease can be caused by homozygous mutation in the proteoglycan-4 gene (PRG4) on chromosome 1q31. |
| | Id | 771187008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 2848 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.5 | | Rule | TRUE | | Advice | ALWAYS Q87.5 | 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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