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familiaire geïsoleerde trichomegalie (aandoening)
familiaire geïsoleerde trichomegalie
Familial isolated trichomegaly
A rare genetic hair anomaly with characteristics of a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated. There is evidence the disease is caused by homozygous mutation in the FGF5 gene on chromosome 4q21.
Id764523004
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van wimper
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ84.2
RuleTRUE
AdviceALWAYS Q84.2
CorrelationSNOMED CT source code to target map code correlation not specified