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syndroom van amaurose en hypertrichose (aandoening)
syndroom van amaurose en hypertrichose
Amaurosis hypertrichosis syndrome
Syndrome with characteristics of severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophrys and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.
Id720983002
StatusPrimitive
Associated morphologyverandering in groei
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydystrofie
Finding sitestructuur van retina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified