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syndroom van gecombineerde immunodeficiëntie en facio-oculoskeletale afwijkingen (aandoening)
syndroom van gecombineerde immunodeficiëntie en facio-oculoskeletale afwijkingen
syndroom van Roifman-Chitayat
Combined immunodeficiency with faciooculoskeletal anomalies syndrome
Roifman Chitayat syndrome
An extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).
Id770625006
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van nervus opticus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Pathological processafwijkend immuunproces
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