|||||||
syndroom van cerebrale dysgenesie, neuropathie, ichtyose en keratosis palmoplantaris (aandoening)
syndroom van cerebrale dysgenesie, neuropathie, ichtyose en keratosis palmoplantaris
CEDNIK syndrome
CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, keratoderma) syndrome
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome
A neurocutaneous syndrome with characteristics of severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. It has been described so far in seven affected individuals (four boys and three girls) from two consanguineous families. Clinically, the patients display a unique constellation of clinical signs described with the acronym CEDNIK: CErebral dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. It is caused by mutations in the SNAP29 gene (22q11.2) that encodes a SNARE protein involved in vesicle fusion. The disease is inherited as an autosomal recessive condition.
Id722385008
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van cerebrum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhyperkeratose
Finding sitegehele huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
Interpretskeratinisatie
referentieset met complexe 'mapping' naar ICD-10
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3
CorrelationSNOMED CT source code to target map code correlation not specified