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aandoening van emopanilbindend proteïne met neurologisch defect bij man (aandoening)
aandoening van emopanilbindend proteïne met neurologisch defect bij man
mannelijke aandoening van 'emopamil-binding protein' met neurologisch functieverlies
Male emopamil-binding protein disorder with neurological defect
MEND (male emopamil-binding protein disorder with neurological defect) syndrome
Male EBP (emopamil-binding protein) disorder with neurological defect
A rare genetic syndromic sterol biosynthesis disorder affecting males. The disease has characteristics of skin manifestations including collodion membrane, ichthyosis and patchy hypopigmented lesions associated with severe neurological involvement (for example intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). Toe syndactyly, polydactyly and kyphosis as well as ophthalmic, cardiac and urogenital anomalies may also be associated. There is evidence the disease is caused by hemizygous mutation in the EBP gene on chromosome Xp11.
Id782739000
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van huid
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