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syndroom van verstandelijke beperking, enteropathie, doofheid, perifere neuropathie, ichtyose en keratoderma (aandoening)
syndroom van verstandelijke beperking, enteropathie, doofheid, perifere neuropathie, ichtyose en keratoderma
MEDNIK-syndroom
erythrokeratodermia variabilis type 3
erythrokeratodermia variabilis type Kamouraska
syndroom van mentale retardatie, enteropathie, doofheid, perifere neuropathie, ichtyose en keratoderma
syndroom van verstandelijke handicap, enteropathie, doofheid, perifere neuropathie, ichtyose en keratoderma
MEDNIK syndrome
Erythrokeratodermia variabilis 3
MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia) syndrome
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome
Erythrokeratodermia variabilis Kamouraska type
MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), has characteristics of intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis and keratodermia. The syndrome has been described in four families descending from limited number of ancestors in Quebec. The disease is due to a mutation in the AP1S1 gene encoding the small subunit sigma1A of the AP-1 complex. Transmission is autosomal recessive.
Id722035007
StatusPrimitive
Associated morphologyhyperkeratose
Finding sitegehele huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsgehoorfunctie
Has interpretationafwijkend
Interpretskeratinisatie
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