Atresia of nasolacrimal duct	Auditory system hereditary disorder	Autosomal dominant hereditary disorder	Coloboma of eye	Developmental hereditary disorder	Hereditary disorder of the visual system	Microtia	Multiple system malformation syndrome
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Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder)
	Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
	Balikova Vermeesch syndrome
	Syndrome with the association of microtia, eye coloboma and imperforation of the nasolacrimal duct. So far, it has been described in only one family. The phenotype is associated with the presence of five copies of a copy-number-variable region (CNV) located at 4pter. This is the first example of an amplified CNV being associated with a Mendelian disorder. Transmission is autosomal dominant.
	syndroom van microtie, oogcoloboom en imperforatie van ductus nasolacrimalis
	syndroom van Balikova-Vermeesch

Id	724139004
Status	Primitive

Associated morphology	Congenital smallness
Finding site	External ear structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Developmental failure of fusion
Finding site	Eye structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Congenital atresia
Finding site	Nasolacrimal duct structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q17.2
Rule	TRUE
Advice	ALWAYS Q17.2
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q13.0
Rule	TRUE
Advice	ALWAYS Q13.0 \| MAPPED FOLLOWING WHO GUIDANCE
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q10.4
Rule	TRUE
Advice	ALWAYS Q10.4
Correlation	SNOMED CT source code to target map code correlation not specified