| syndroom van segmentale overgroei, lipomatose, arterioveneuze malformatie en epidermale naevus (aandoening) | | syndroom van segmentale overgroei, lipomatose, arterioveneuze malformatie en epidermale naevus | | syndroom van segmentale uitloper, lipomatose, arterioveneuze malformatie en epidermale naevus
SOLAMEN-syndroom
| | Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | | SOLAMEN syndrome
| | A rare genetic, poly malformative syndrome with characteristics of progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems are also associated. Patients present an increased risk of developing cancer. |
| | Id | 763867001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q85.8 | | Term | Overige gespecificeerde facomatosen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 137608 |
| SNOMED CT to ICD-10 extended map | | Target | Q85.8 | | Rule | TRUE | | Advice | ALWAYS Q85.8 | 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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