|||||||||||
syndroom van multisystemische disfunctie van gladde spieren (aandoening)
syndroom van multisystemische disfunctie van gladde spieren
Multisystemic smooth muscle dysfunction syndrome
A rare genetic vascular disease with characteristics of congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease. There is evidence the disease is caused by heterozygous mutation in the ACTA2 gene on chromosome 10q23.
Id782724001
StatusPrimitive
Finding sitestructuur van pupil
Occurrencecongenitaal
Associated morphologydilatatie
Finding sitestructuur van pupil
referentieset met complexe 'mapping' naar ICD-10
TargetI73.8
RuleTRUE
AdviceALWAYS I73.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified