atresie van ductus nasolacrimalis	autosomaal dominante hereditaire aandoening	congenitaal coloboom van oog	hereditaire aandoening van auditief systeem	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis	malformatiesyndroom met betrokkenheid van meerdere systemen	microtie
\|	\|	\|	\|	\|	\|	\|	\|

syndroom van microtie, oogcoloboom en imperforatie van ductus nasolacrimalis (aandoening)
	syndroom van microtie, oogcoloboom en imperforatie van ductus nasolacrimalis
	syndroom van Balikova-Vermeesch
	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.

Id	724139004
Status	Primitive

Associated morphology	congenitale kleinheid
Finding site	structuur van auris externa
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	fusiedefect
Finding site	structuur van bulbus oculi
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	atresie
Finding site	structuur van ductus nasolacrimalis
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	Q17.2
Term	Microtie

Target	Q13.0
Term	Coloboom van iris

Target	Q10.4
Term	Ontbreken en agenesie van traanapparaat

SNOMED CT to Orphanet simple map

139450

SNOMED CT to ICD-10 extended map

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