Aplasia cutis congenita	Autosomal recessive hereditary disorder	Developmental hereditary disorder	Hereditary disorder of the integument	Hereditary disorder of the visual system	Multiple system malformation syndrome	Severe myopia
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Aplasia cutis with myopia syndrome (disorder)
	Aplasia cutis with myopia syndrome
	Gershoni Baruch Leibo syndrome
	This syndrome has characteristics of the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.
	syndroom van aplasia cutis en myopie
	syndroom van Gershoni-Baruch-Leibo

Id	720499004
Status	Primitive

Finding site	Structure of visual system
Pathological process	Pathological developmental process

Associated morphology	Aplasia
Finding site	Skin part
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q84.8
Rule	TRUE
Advice	ALWAYS Q84.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H52.1
Rule	TRUE
Advice	ALWAYS H52.1
Correlation	SNOMED CT source code to target map code correlation not specified