| X-gebonden syndroom van Alport met diffuse leiomyomatose (aandoening) | | X-gebonden syndroom van Alport met diffuse leiomyomatose | | X-gebonden ziekte van Alport met diffuse leiomyomatose
| | X-linked diffuse leiomyomatosis with Alport syndrome | | X-linked diffuse leiomyomatosis, Alport syndrome
| | The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. The disease is due to a deletion involving the 5' terminal region of both COL4A5 and COL4A6 (as such, it forms a contiguous gene syndrome). Only the first two exons of COL4A6 are deleted but the extent of COL4A5 gene deletion is variable. |
| | Id | 726106004 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 1018 |
| 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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