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syndroom van trichomegalie, retinale pigmentdegeneratie en dwerggroei (aandoening)
syndroom van trichomegalie, retinale pigmentdegeneratie en dwerggroei
syndroom van trichomegalie, retinitis pigmentosa en groeiretardatie
Oliver McFarlane syndrome
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
This syndrome has characteristics of growth retardation, alopecia, abnormally long eyelashes and retinitis pigmentosa. Moderate intellectual deficit was also present in the majority of cases. To date, 11 cases have been reported. Transmission is thought to be autosomal recessive.
Id719944006
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyabnormaal lange groei
Finding sitegehele wimpers
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypigmentdegeneratie
Finding sitestructuur van retina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified