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letaal arteriopathiesyndroom door fibuline-4-deficiƫntie (aandoening)
letaal arteriopathiesyndroom door fibuline-4-deficiƫntie
Lethal arteriopathy syndrome due to fibulin-4 deficiency
A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
Id782773005
StatusPrimitive
Associated morphologyaneurysma
Finding sitearterie
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ25.4
RuleTRUE
AdviceALWAYS Q25.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ25.7
RuleTRUE
AdviceALWAYS Q25.7
CorrelationSNOMED CT source code to target map code correlation not specified