aplasia cutis congenita	autosomaal recessieve hereditaire aandoening	hereditaire aandoening van integumentum	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis	hoge myopie	malformatiesyndroom met betrokkenheid van meerdere systemen
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syndroom van aplasia cutis en myopie (aandoening)
	syndroom van aplasia cutis en myopie
	syndroom van Gershoni-Baruch-Leibo
	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.

Id	720499004
Status	Primitive

Finding site	structuur van visueel systeem
Pathological process	proces van pathologische ontwikkeling

Associated morphology	aplasia
Finding site	gedeelte van huid
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q84.8
Term	Overige gespecificeerde congenitale misvormingen van huidadnexen

Target	H52.1
Term	Myopie

SNOMED CT to Orphanet simple map

1117

SNOMED CT to ICD-10 extended map

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