Autosomal dominant hereditary disorder	Congenital anomaly of skin	Congenital neurological disorder	Developmental hereditary disorder	Erythrokeratoderma	Spinocerebellar ataxia
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Spinocerebellar ataxia type 34 (disorder)
	Spinocerebellar ataxia type 34
	Erythrokeratodermia with ataxia Spinocerebellar ataxia and erythrokeratodermia
	Disease with characteristics of papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. Reported in 25 members of one French-Canadian family to date. Due to a mutation in the ELOVL4 gene (6q14).
	spinocerebellaire ataxie type 34
	SCA34

Id	719255000
Status	Primitive

Has interpretation	Abnormal
Interprets	Keratinization

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

Associated morphology	Degenerative abnormality
Finding site	Cerebellar structure

Associated morphology	Degenerative abnormality
Finding site	Spinal cord structure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	G11.1
Rule	TRUE
Advice	ALWAYS G11.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified