Autosomal recessive hereditary disorder	Congenital anomaly of skin	Congenital neurological disorder	Developmental hereditary disorder	Hereditary degenerative disease of central nervous system	Hereditary disorder of the integument	Leukodystrophy Leucodystrophy
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Dermatoleukodystrophy (disorder)
	Dermatoleukodystrophy
	This syndrome is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.
	dermatoleukodystrofie

Id	733044009
Status	Primitive

Associated morphology	Myelin sheath alteration
Finding site	Myelinated nerve fiber structure

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

Associated morphology	Dystrophy
Finding site	White matter structure of brain and spinal cord

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E75.2
Rule	TRUE
Advice	ALWAYS E75.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified