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syndroom van ataxie, fotosensitiviteit en kleine gestalte (aandoening)
syndroom van ataxie, fotosensitiviteit en kleine gestalte
syndroom van Fenton-Wilkinson-Toselano
Ataxia, photosensitivity, short stature syndrome
Fenton Wilkinson Toselano syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.
Id773769008
StatusPrimitive
Causative agentlicht
Finding sitestructuur van huid
Associated morphologymorfologische afwijking
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified