autosomaal recessief syndroom van pterygium van ledemaat, hartafwijking, werveldefect, ooranomalie en radiaal defect (aandoening) | | PHAVER-syndroom | | syndroom van Powell-Chandra-Saal autosomaal recessief syndroom van pterygium van ledemaat, hartafwijking, werveldefect, ooranomalie en radiaal defect
| | PHAVER syndrome | | Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome PHAVER (pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect) syndrome Powell Chandra Saal syndrome
| | A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. |
| Id | 723453002 | 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 | 2876 |
SNOMED CT to ICD-10 extended map | Target | E79.8 | Rule | TRUE | Advice | ALWAYS E79.8 | 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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