syndroom van perineaal hemangioom, malformatie van uitwendig geslachtsorgaan, lipomyelomeningocele, vesicorenale afwijkingen, anusatresie en fibroma molle (aandoening) | | syndroom van perineaal hemangioom, malformatie van uitwendig geslachtsorgaan, lipomyelomeningocele, vesicorenale afwijkingen, anusatresie en fibroma molle | | SACRAL-syndroom syndroom van spinale dysrafie, anogenitale en cutane anomalieën, renale en urologische afwijkingen en lumbosacraal angioom LUMBAR-syndroom syndroom van perineaal hemangioom, malformaties van externe genitaliën, spina bifida, vesicorenale afwijkingen, anusatresie en 'skin tag' PELVIS-syndroom
| | PELVIS syndrome | | PELVIS (perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus) syndrome Perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome
| | PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus and Skin tag. Eleven cases have been reported. |
| Id | 725138002 | 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 | 83628 |
SNOMED CT to ICD-10 extended map | Target | Q87.8 | Rule | TRUE | Advice | ALWAYS Q87.8 | 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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