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.
Associated morphologymorfologische afwijking
Finding sitestructuur van wimper
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige congenitale misvormingen van haar
SNOMED CT to Orphanet simple map411788
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q84.2
CorrelationSNOMED CT source code to target map code correlation not specified