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Ataxia, photosensitivity, short stature syndrome (disorder)
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.
syndroom van ataxie, fotosensitiviteit en kleine gestalte
syndroom van Fenton-Wilkinson-Toselano
Id773769008
StatusPrimitive
Causative agentLight
Finding siteSkin structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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