Autosomal recessive ichthyosis	Congenital anomaly of cerebrum	Congenital palmoplantar keratoderma	Hereditary diffuse palmoplantar keratoderma	Hereditary disorder of nervous system	Neurocutaneous syndrome	Rough skin of hands
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Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder)
	CEDNIK syndrome
	Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, 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.
	syndroom van cerebrale dysgenesie, neuropathie, ichtyose en keratosis palmoplantaris

Id	722385008
Status	Primitive

Associated morphology	Hyperkeratosis
Finding site	Entire skin of sole of foot

Associated morphology	Neoplasm
Finding site	Structure of nervous system
Occurrence	Congenital

Associated morphology	Neoplasm
Finding site	Skin structure
Occurrence	Congenital

Has interpretation	Abnormal
Interprets	Keratinization

Associated morphology	Morphologically abnormal structure
Finding site	Cerebrum
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Hyperkeratosis
Finding site	Entire skin
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Hyperkeratosis
Finding site	Entire skin of palmar area of hand

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q82.8
Rule	TRUE
Advice	ALWAYS Q82.8
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q04.3
Rule	TRUE
Advice	ALWAYS Q04.3
Correlation	SNOMED CT source code to target map code correlation not specified