phakomatosis

التعريفات والمعاني

== English == === Alternative forms === phacomatosis === Etymology === From phak- +‎ -omato- +‎ -osis, from the Greek φακός (phakós, “spot, lens”), -ωμα (-ōma, “process”), and the suffix -osis; the term was introduced by Dutch ophthalmologist Jan van der Hoeve in 1920, before the distinct genetic basis of each of these diseases was understood. === Pronunciation === IPA(key): /ˌfeɪkəʊməˈtəʊsɪs/, /ˌfæk-/ === Noun === phakomatosis (plural phakomatoses) Any of a group of neurocutaneous disorders of the central nervous system causing lesions on the skin and eye. ==== Synonyms ==== neuro-oculo-cutaneous syndrome, neurocutaneous disorder, neurocutaneous syndrome ==== Hyponyms ==== angiophakomatosis Sturge-Weber syndrome von Hippel–Lindau disease ataxia-telangiectasia incontinentia pigmenti Jadassohn's nevus phakomatosis neurofibromatosis nevoid basal cell carcinoma syndrome tuberous sclerosis Wyburn-Mason syndrome (Bonnet–Dechaume–Blanc syndrome) ==== Derived terms ====