acrodysplasia scoliosis (aandoening) | | acrodysplasia scoliosis | | syndroom van Prata-Liberal-Goncalves syndroom van acrodysostose en scoliose Prata-Liberal-Goncalves-syndroom syndroom van brachydactylie, scoliose en carpale fusie syndroom van acrodysplasie en scoliose
| | Acrodysplasia scoliosis | | Prata Liberal Goncalves syndrome Brachydactyly, scoliosis, carpal fusion syndrome
| | A rare genetic dysostosis disorder with characteristics of brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. |
| Id | 773773006 | 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 | 2956 |
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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