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primaire intraossale veneuze malformatie (aandoening)
primaire intraossale veneuze malformatie
osseuze veneuze malformatie
intraossaal hemangioom
Primary intraosseous venous malformation
Osseous venous malformation
Intraosseous hemangioma
A rare genetic vascular anomaly with characteristics of severe blood vessel expansion most frequently within the craniofacial bones with painless bone enlargement usually of mandibula, maxilla and/or orbital, nasal and frontal bones. This typically results in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos and loss of vision, nausea, and vomiting. There is evidence the disease is caused by homozygous mutation in the ELMO2 gene on chromosome 20q13.
Id764100007
StatusPrimitive
Associated morphologyhemangioom
Finding sitestructuur van bloedvat
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetD18.0
RuleTRUE
AdviceALWAYS D18.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE
CorrelationSNOMED CT source code to target map code correlation not specified