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syndroom van alopecia, epilepsie, pyorroe en verstandelijke beperking (aandoening)
syndroom van alopecia, epilepsie, pyorroe en verstandelijke beperking
syndroom van alopecia, epilepsie, pyorroe en mentale retardatie
syndroom van alopecia, epilepsie, pyorroe en verstandelijke handicap
Shokeir-syndroom
syndroom van alopecia, epilepsie, pyorroe en intellectuele achterstand
syndroom van Shokeir
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome
Shokeir syndrome
Syndrome characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontal pyorrhea. Total permanent alopecia and periodontal pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.
Id720980004
StatusPrimitive
Associated morphologyafwezigheid
Finding sitestructuur van pilus
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