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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.
Id726106004
StatusPrimitive
Associated morphologyleiomyomatose
Occurrencecongenitaal
Associated morphologychronische ontsteking
Finding sitestructuur van glomerulus
Occurrencecongenitaal
Associated morphologydeletie van lange arm
Finding sitestructuur van X-chromosoom
Occurrencecongenitaal
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified